DNA Today: A Genetics Podcast

We want to acknowledge the war in the Middle East and its impact on this conference from a canceled session to protests close to the conference center. Regardless of how we view the war, it’s important we listen and support one another. You might be wondering why this episode was not released Friday morning like all of our episodes for the last few years… Well, we were busy at The National Society of Genetic Counselors Conference in Chicago which just wrapped. In order to be able to fully reflect on the conference we wanted to hold off on recording until the last day. Also this is why our host Kira Dineen’s voice is so strained because she was talking to so many of you. Our hearts are full! NSGC was incredibly fun this year! It was amazing to meet so many of you. Podcasting is very one way compared to other forms of digital media so it’s such a treat every year to meet people in person including many listeners who are genetic counselors and genetic counseling students. If we didn’t get to chat, please email in ([email protected]). Host Kira Dineen (she/her) is joined by fellow genetic counselor Catherine Mayo to recap and reflect on NSGC this year. Catherine Mayo (she/her), is a Genomic Science Liaison at Ambry Genetics. She is a board-certified genetic counselor interested in rare diseases, increased access to genetics services, and social justice in healthcare. She has previous experience in biotechnology and drug development in the Bay Area. Opinions in this episode are her own. Check out Catherine’s other appearance on DNA Today where we chatted about the film Gattaca, mostly how much technology in the film is no longer fiction. That’s Episode #110. We recorded this when we were roommates in grad school together and are members of Sarah Lawrence’s Class of 2020. October is also the 26th year anniversary of the movie’s release so our Patreon group is hanging on Zoom later this month to nerd out about it together! If you haven’t watched it, Gattaca is about a futuristic society where there is this disparity between people who were naturally conceived and those who were conceived through ART and are “designer babies”. National Society of Genetic Counselor (NSGC) 2023 Conference Sessions Discussed: You Can Do It, Too! Genetics Content Creation and Science Communication via TikTok, Instagram, Podcasting, YouTube, LinkedIn and More Janus Lecture - Family History: Exploring the Roots and Branches NSGC Professional Issues Panel: How to “Widen the Frame” and Bring Intersectionality to Your Genetic Counseling Practice Plenary Session: Say My Name, Say My Name: It's Time to Discuss the Problem with the Name "Genetic Counselor" More info and discussion here The Most Important Omics of All: Economics of Healthcare Across Private, Public, and Not-for-Profit Organizations How to Build a Somatic Testing Protocol in Oncology: We’re Building the Plane While We’re Flying It Late Breaking Plenary Session: Embracing Artificial Intelligence in Genetic Counseling: Transforming Patient Care and Enhancing Clinical Outcomes Readings Referenced: The Practical Guide to the Genetic Family History By Robin Bennett (March 2010) The Spring of Sight By Rob Boscacci (May 2023) Abandoning the word Caucasian (Oct 2023) Practice resource-focused revision: Standardized pedigree nomenclature update centered on sex and gender inclusivity: A practice resource of the National Society of Genetic Counselors (Sept 2022) Standardized Human Pedigree Nomenclature: Update and Assessment of the Recommendations of the National Society of Genetic Counselors (Sept 2008) Recommendations for standardized human pedigree nomenclature. Pedigree Standardization Task Force of the National Society of Genetic Counselors (Sept 1995) Comparison of Ophthalmologist and Large Language Model Chatbot Responses to Online Patient Eye Care Questions (Aug 2023) Scientists release a new human “pangenome” reference (May 2023) DNA Today Podcast Episodes Referenced: #110 Gattaca, 22 Years Later #182 Eric Green on the Complete Human Genome Project #189 Building Inclusive Pedigrees with PhenoTips #231 ChatGPT and AI In Genetics with Daniel Uribe #235 Genetic Counseling History: ABGC Formation #243 PhenoTips: Navigating Barriers in LGBTQIA+ Genetic Care Curious about other NSGC conferences? We have recapped the last five years of conferences including 2019, 2020, 2021, and 2022. Stay tuned for the next new episode of DNA Today this Friday! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media I

Prepare to uncover the mystifying realm of genetics as we bring you a thought-provoking conversation with Meena Mahey Kumar and Laura Fuqua from Blueprint Genetics. Together, we'll explore the pivotal role that human touch plays in interpreting genetic data, emphasizing the irreplaceable importance of meticulous analysis and individualized patient care. You'll learn how their unwavering dedication to transparency in classifying variants is a game-changer in patient outcomes. You'll be captivated as Meena and Laura recount a riveting real-life instance of how technology, clinician collaboration, and data interpretation converged to bring about transformative medical management for a pregnant patient. Discover the intriguing concept of mosaicism and its profound influence on genetic interpretation. They will also shed light on the challenges and nuances of genetic testing, underscoring the vital necessity of human involvement in this complex process. Our guests will also reveal how their trailblazing team at Blueprint Genetics has created innovative tests, pushing the envelope in coverage and detection of smaller deletions. We'll delve into the complexities of genetic testing and introduce you to the bioinformatics team's contribution at Blueprint Genetics. You'll understand how their unique 'human touch' continues to enhance patient care. Meena and Laura discuss the ongoing evolution in the field of genetics and how we can leverage these advancements to better serve patients and the wider community. Meena Mahey Kumar is the Senior Director of Clinical Genomics and supports the clinical genomics services (CGS) team at Blueprint Genetics. She actively volunteers in the Quest Inclusion and Diversity Council. She is board certified in genetic counseling by the American Board of Genetic Counseling and earned her Master of Science in Human Genetics from Sarah Lawrence College, NY. She is passionate about genomics in patient- centered healthcare and diversity in genomics. She supports efforts to make high quality genetic diagnostics accessible across the world and works to continuously add to the knowledge and conversation in genomics. Meena has worked in a pediatric, adult and prenatal genetics clinic setting before working in commercial genetics laboratories leading sales & marketing, and clinical genomics services initiatives. She believes in strong partnerships between clinic and lab for best patient outcomes. Laura Fuqua is a Genomic Variant Scientist for Blueprint Genetics. As part of the global Clinical Interpretation team, she analyzes variants for their pathogenicity in human disease and collaborates across Blueprint and Quest to build genomic services. A proud member of the BpG Inclusion and Diversity subcommittee and the Quest Pan Asian Business Leaders provides opportunities for a welcoming and thriving workplace. Laura maintains active board certification by the American Board of Genetic Counseling and earned a master’s degree in genetic counseling from Brandeis University. Laura’s previous decade-long experience encompasses caring for and managing comprehensive medical care for patients with a personal or family history of genetic conditions, notably hereditary cancer and maternal fetal medicine. Currently, she is a member of the ClinGen Consortium TP53 gene expert panel, working to elucidate the clinical significance of VUSs for patients with Li Fraumeni syndrome. Learn more at blueprintgenetics.com and follow Blueprint Genetics on X (Formly Twitter), Facebook, and LinkedIn. Stay tuned for the next new episode of DNA Today where we will be recapping the National Society of Genetic Counselors’ Annual Conference in Chicago next week! Our host, Kira Dineen, will be there, so say hi if you run into her. Blueprint Genetics will also have a booth at NSGC so stop by as you explore the exhibit hall. New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

If you are a long time listener of DNA Today you know how fascinating and frightening we find CRISPR, you must be too if you clicked on this episode. So I wanted to share with you a new podcast I have started listening to called A CRISPR Bite. This is the first episode to get you hooked. CRISPR gene-editing technology came out as a massive biotech breakthrough in the last decade, but most people have still never heard of it. A CRISPR Bite is a five-part podcast series where food anthropologist Dr. Lauren Crossland-Marr takes listeners into the labs where researchers are tinkering with food genes, to help break down the problems they’re hoping to solve – and what’s at stake. Stream the other four parts of this podcast series by searching, “A CRISPR Bite” in your podcast app. Let me know if you enjoy it as much as I am! And if you finish the series and want more episodes that discuss CRISPR, I recommend listening to DNA Today’s Episodes 197, 198 and 84. Stay tuned for the next new episode of DNA Today next Friday on October 13th where we explore the interpretation side of reporting and discuss how important the “human touch” element is to the process. For this conversation I will be joined by Blueprint Genetics’ Senior Director of Clinical Genomics’ Meena Mahey Kumar and Genomic Variant Scientist Laura Fuqua. If you are going to the NSGC conference in Chicago in a couple weeks then be sure to stop by the Blueprint Genetics Booth! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel, this includes some episodes recorded at NBC Universal Stamford Studios. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our logo Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This is the second half of our conversation about an important topic in genetic counseling that is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson. Before you listen to this episode please listen to the first part of the discussion on Episode #255. Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. On This Episode We Discuss: How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles Creating awareness, especially for prospective and current GC students, within the genetic counseling community about the potential for burnout and the importance of mental health Advice for current genetic counselors who may be experiencing burnout or contemplating a career change Hopes for the future of genetic counseling and how it can continue to positively impact patients and practitioners alike While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into [email protected] and we will forward your message to them directly. Stay tuned for the next new episode of DNA Today on October 6th. New episodes are released every Friday. In the meantime, you can binge over 255 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on X, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Over the next two episodes, we are discussing an important topic in genetic counseling that definitely is not talked about enough, burnout and transitioning to roles outside of the field. Joining us for this conversation are genetic counselors, Tiana Rogers and Nira Johnson. Tiana Rogers is an aspiring digital designer and board-certified genetic counselor with direct patient care experience in prenatal and cancer genetics. She is currently a Content Consultant at My Gene Counsel where she investigates gene- and variant-specific updates and translates them into plain language for patients and caregivers, and a Genetic Counselor at Grey Genetics. She received her B.S. in Evolutionary Biology from Stony Brook University, and her M.S. from the Joan H. Marks Graduate Graduate Program in Human Genetics at Sarah Lawrence College (same class as our host Kira Dineen!). Nira Johnson is a genetic counselor turned graphic designer, who spent more than 10 years in cancer and prenatal genetics (mostly in industry) and about 5 years in graphic design. Now, her main goal is making accurate, patient- and provider-focused educational materials as well as science-focused art. She currently works as a graphic designer and consultant for Global Genes, and a marketing and development consultant for Clover Genetics. Nira also founded and owns her own freelance medical graphic design agency, Designs by NKJ! She received her AssociatesDegree in Graphic Design from Rasmussen University, and her M.S. in Genetic Counseling from Brandeis University. On This Episode We Discuss: Tiana’s and Nira’s journeys to becoming genetic counselors and the most rewarding aspects of their roles Factors that can contribute to GC burnout Challenges our guests faced while working in clinic and non-direct patient setting and how did they impacted their mental health Strategies and resources to help cope with burnout and support to address mental health concerns in the GC field How the field of genetic counseling and healthcare organizations can better address burnout and mental health challenges among practitioners and support well-being and career satisfaction Pursuing alternative career paths outside of genetic counseling and how GC skills can transfer to other roles While recording this episode, both of our guests were adamant about continuing this important conversation surrounding burnout in genetic counseling, and they encourage anyone who is currently battling burnout or trying to prevent it to reach out to them via LinkedIn here: Tiana Rogers and Nira Johnson. Or email into [email protected] and we will forward your message to them directly. Be sure to check out our social media channels for details to enter our giveaway of artwork from Nira! Stay tuned for the next new episode of DNA Today on September 29th, 2023 where we’ll be continuing our conversation with Tiana and Nira on genetic counseling burnout! New episodes are released every Friday. In the meantime, you can binge over 255 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This episode was originally released on It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins the podcast as a guest host especially for genetic topics, like in this episode. It Happened To Me is a rare disease and medical challenges podcast. The mission of the show is to create community as listeners confront the toughest challenges in life. All of us will experience health hardships. The real question is, how do we adapt? That’s the focus of It Happened To Me. The podcast explores how to overcome limitations and live a full and satisfying life. Drawing on their own health challenges, hosts Cathy Gildenhorn and Beth Glassman interview guests who share stories and research to help others succeed in the face of difficult health obstacles. In this episode, parents Bonnie and Will Alms share their son's diagnostic odyssey with Bardet Biedl Syndrome. Everett’s condition is a rare genetic disorder. People may suffer symptoms that include retinal degeneration, obesity, reduced kidney function, extra digits of the hands or feet, as well as many other manifestations. You can learn more about Everett in this article. We are sharing this episode in preparation for Bardet Biedl Syndrome awareness day on September 24th, 2023! Join us in sharing this episode on social media to raise awareness. This interview explores… Basics of Bardet Biedl Syndrome (BBS) What their OB/GYN discovered Meeting with prenatal genetic counselor Testing during pregnancy and after birth Sequence of tests leading to BBS diagnosis When and how they learned about the condition Coping with the diagnosis news Timing of Everett's BBS diagnosis Outlook for quality and length of Everett's life Everett's current quality of life and symptoms Experience with seizures, onset, and medication Vision loss, adaptation, and legal blindness Dealing with obesity or insatiable hunger Participation, goal and outcome of the clinical trial Surgeries for extra fingers and toes Everett's current status as a teenager Additional symptoms developed since childhood Remaining BBS symptoms not experienced by Everett BBS community, connections, and resources Advice for parents of undiagnosed diseases This was the first part of the conversation, for the second half check out Episode 12 of It Happened To Me on Apple Podcasts, Spotify, or any other podcast player by searching, “It Happened To Me”. Learn more about the show on their website. Stay tuned for the next new episode of DNA Today! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we are discussing inborn errors of immunity, with a particular focus on chronic granulomatous disease (CGD). Joining us for this episode is rare disease advocate, Felicia Morton, and genetic counselor, Torry Howell. Felicia Morton, is the Founder and Executive Director of the CGD Association of America. Felicia has been a well-known advocate for the CGD community for more than a decade armed with her family’s personal experience. Torry Howell, is a clinical genomic liaison at Blueprint Genetics. She received her Master of Science in Genetic Counseling from the University of Texas and MD Anderson Cancer Center in Houston, Texas. On This Episode We Discuss: Inborn errors of immunity (IEIs) and types of conditions that fall under this umbrella term Genetic testing for IEIs and how earlier diagnosis can impact a patient’s treatment decisions Chronic granulomatous disease (CGD) Felicia’s personal experience as a carrier of CGD and parent of a son with CGD Stem cell treatment for CGD The importance of collaboration between patients, caregivers, advocacy groups, and medical experts in improving the lives of those affected by CGD and IEIs Important links and resources mentioned during the episode: NIH’s Division of Allergy, Immunology, and Transplantation CGD Association of America Human Inborn Errors of Immunity: 2022 Update on the Classification from the International Union of Immunological Societies Expert Committee Stay tuned for the next new episode of DNA Today on September 15th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This episode was originally recorded for It Happened To Me: A Rare Disease podcast, where our host Kira Dineen is the Executive Producer. Sometimes Kira joins this podcast as a guest host especially when there will be genetic topics, like in this episode. This episode was extra special as DNA Today’s Communications Lead Corinne Merlino was the guest! Corinne was also a guest on Episodes 245 and 246 where we answered listener’s questions about the genetic counseling graduate school application process. This was recorded in NBC Universal’s Stamford Studios so we recommend watching it on YouTube! Corinne was born with Pierre Robin Syndrome, a rare congenital birth defect that affects craniofacial development. Navigating life as a patient from a young age sparked her passion for science, medicine, and advocacy, and ultimately inspired her to pursue a career in genetic counseling. Corinne currently works as a clinical research coordinator for -The Palliative and Advanced Illness Research- or (PAIR) Center- at The University of Pennsylvania. There she supports multiple studies focused on improving the effectiveness and efficiency of specialty palliative care services for seriously ill patients. In 2020, Corinne received her B.S. in Biology and Healthcare Ethics from Saint Joseph's University. Corinne is currently a graduate student in genetic counseling at the University of Pennsylvania. During the episode we mentioned Philly Phaces and the book and film Wonder. Stay tuned for the next new episode of DNA Today on September 8th where we will discuss inborn errors of immunity with a Blueprint Genetics clinical genomic liaison, Torry Howell and the Founder and Executive Director of the CGD Association of America, Felicia Morton. New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Episodes in the last three years have also been recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our Communications Lead is Corinne Merlino. Our Video Lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer is Ashlyn Enokian.

Currently, an overwhelming number of DNA samples used for research are from people of European ancestry, making many populations from across the globe underrepresented in genomics research. (NHGRI) In this episode, we explore an important issue in healthcare, diversifying genetic research, with two experts from 23andMe Dr. Ruth Tennen is a product scientist at 23andMe. In this role Dr. Tennen develops new genetic health reports with the goal of helping 23andMe customers access, understand, and benefit from the human genome. Before joining 23andMe, she served as a science policy fellow at the State Department, helping promote science education and entrepreneurship in Africa, and as a lecturer at Stanford, teaching courses on experimental design, bioethics, and cancer. Ruth loves learning about and talking about science, and throughout her career, she has worked to inspire budding scientists by mentoring and teaching students at local schools, hospitals, and museums. Ruth received her bachelor's degree in molecular biology from Princeton and her Ph.D. in cancer biology from Stanford. Dr. Anjali Shastri is a Senior Program Manager at 23andMe. A research scientist by training, she manages programs that increase access to genetic testing, improve representation in genomic studies, and further impactful genetics research (like 23andMe's 1 million-participant COVID-19 Study), so that more people can benefit from 23andMe's health and ancestry products, services, and research. Previously she worked at the U.S. Department of State, Department of Health and Human Services, and the National Academy of Sciences, advancing science-based policies and coordinating global health projects. Anjali received her PhD in Immunology from Stanford University where she was a Diversifying Academia and Recruiting Excellence fellow and National Science Foundation graduate research fellow. Throughout her training and career, Dr. Shastri has led efforts to improve representation and health outcomes for all people. On This Episode We Discuss: Changes in recent years with the diversity in genetic research The importance of increasing the amount of diversity in genetic research and the impact it can have on improving healthcare outcomes Roles that genetic testing and personalized medicine can play in addressing health disparities among different populations 23andMe’s collaboration with Morehouse School of Medicine, the first such collaboration between a genetic testing company and a Historically Black Medical College (HBMC), and how it aims to improve diversity in genetic research specifically for sickle cell disease Challenges faced in expanding diversity in genetic research, and how is 23andMe working to overcome them Goals of the African American Sequencing Project Information included in 23andMe’s sickle cell screening report and challenges and considerations when it comes to providing genetic information related to sickle cell disease when it’s direct-to-consumer 23andMe’s goals and initiatives for diversifying genetic research and improving healthcare outcomes for all populations Links to studies, websites, and press-releases mentioned in this episode: Press release: Morehouse School of Medicine, Sickle Cell Foundation of Georgia and 23andMe Launch Sickle Cell Carrier Status Awareness Program The U.S. Public Health Service Syphilis Study at Tuskegee Low LDL and PSK9 study Georgia Sickle Cell Disease Foundation DNA Today Episodes related to diversifying genetic research and mentioned in episode: #214 2022 Genetics Wrapped with Eric Green #117 Dr. Janina Jeff on African Genomes #34 Henrietta Lacks (HeLa cells) Stay tuned for the next new episode of DNA Today on September 1st, 2023 where we’ll be sharing an episode of It Happened to Me podcast featuring our Communications Lead Corinne Merlino, who shares her experience of having Pierre Robin Syndrome, just in time to in honor of the condition’s awareness day! New episodes of DNA Today are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We are celebrating the 250th episode of DNA Today and the 10 year anniversary of Orphan Black premiere with Madeline Ashby who was a writer for Orphan Black: The Next Chapter. In our conversation we will dive into some of the genetic concepts explored in the show. Warning there will be spoilers for both the TV show and the podcast!!! Madeline Ashby (she/her) is an author among many other creative roles and talents. She graduated from the first cohort of the M.Des. in Strategic Foresight and Innovation programme at OCADU in 2011. It was her second Masters degree. (Her first, in Interdisciplinary Studies, focused on cyborg theory, fan culture, and Japanese animation!) Since 2011, she has been a freelance consulting futurist specializing in scenario development and science fiction prototypes. Her work has appeared in BoingBoing, Slate, MIT Technology Review, WIRED, The Atlantic, and many other notable places. She penned a trilogy of novels starting with vN: The First Machine Dynasty along with other books. Check out her IMDb profile for more info. She is also a writer on our host Kira Dineen’s favorite science fiction podcast of all time: Orphan Black: The Next Chapter. Orphan Black is a thought-provoking sci-fi thriller that explores a world of clones. The main character Sarah runs into someone who looks like her twin, and Sarah figures out she is actually her clone. The story takes off from there of Sarah discovering she is just one of many genetically identical clones, each with their own unique personality and skills. They all navigate a treacherous web of deceit, corporate intrigue, and scientific experimentation. The show ran for 5 years between 2013-2017 before the podcast spinoff was announced. On This Episode We Discuss: The motivation behind continuing the Orphan Black story in podcast format How the show explores the issue of genetic privacy and the downstream effects on relatives of the clones and real-world considerations in genetic data sharing and data privacy How plausible the idea of bio weapons and designing viruses to attack specific individuals based on SNPs, touched on in the show, is in reality and the ethical implications Ethical violations explored in the podcast including uninformed, forced vaccination, and how they parallel real-world bioethical concerns Storing genetic data in the podcast and tv show versus the real-world We talked a lot about science fiction on this episode, but we wanted to share some exciting developments in the real-world of genetic research that could allow same-sex couples to share biological children someday: TIME: Get Ready for Embryos From Two Men or Two Women NPR: Startup aims to make lab-grown human eggs, transforming options for creating families Stay tuned for the next new episode of DNA Today on August 25th, 2023! New episodes are released every Friday. In the meantime, you can binge over 250 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this episode we are joined by two genetic counselors to explore the experience of being a male in our field. John Zimmerman, MS, CGC, is a certified genetic counselor at UT Southwestern Medical Center. John completed his genetic counseling training at the University of Minnesota in 2017 and has since worked as a clinical genetic counselor with the UT Southwestern Cancer Genetics Program. Recently, he has taken on the additional role of Director of Fieldwork for the UT Southwestern Genetic Counseling Program. John is an active member of the National Society of Genetic Counselors, serving on the Access and Service Delivery Committee. He is also the current president of the Texas Society of Genetic Counselors. Daniel Riconda, MS, CGC, (he/him) is a certified genetic counselor and Associate Professor at Baylor College of Medicine (BCM) in Houston, Texas who received his M.S. in Genetic Counseling from Sarah Lawrence College in 1988. He obtained certification by the American Board of Medical Genetics in 1990 and became certified as a founding member of the American Board of Genetic Counseling in 1993. He is also a certified Resolve Through Sharing (RTS) bereavement counselor. In 2016 he joined the Department of Molecular and Human Genetics at BCM and School of Health Professions to lead the coordination, design, and development of a Master of Science Genetic Counseling program and is now serving as the Program Director. He has been serving as a project manager of Consultagene, an online tele-genetic counseling and educational resource at BCM, since 2016. He currently sees patients for cancer genetic counseling in the Adult Genetics Clinic at BCM. He has served as an At-Large Board member for the NSGC BOD (2015-2016) and has previously served as a member of that organization’s ethics committee, public affairs committee and co-chair of their subcommittee on licensure. He served a 5 year term (2002-2006) as an (elected) board member of the American Board of Genetic Counseling (and as chair of the Accreditation committee for 3 years), served as the program services committee chairperson for the Florida March of Dimes, and has served on both the Florida & Texas public affairs committees for the March of Dimes. In 2010, he was selected as one of nine-videotaped “Master Genetic Counselor’s” for training videos that were distributed to all of the Genetic Counseling training programs across North America. He has been actively involved in genetics education and licensure activities at the local, state and national level. He is currently an invited member of the ASHG Membership Engagement Committee, is a member of the ACGC Standards Committee, and served on the Association of Genetic Counseling Program Directors (AGCPD) DEI Committee. In 2022 he received a Norton-Rose-Fulbright Faculty Excellence Award for Educational Leadership. Prior to joining Baylor, he developed and coordinated prenatal, pediatric, specialty clinics and oncology related genetic counseling services at Winnie Palmer and Arnold Palmer Hospitals in Orlando, Florida for more than 2 decades. On This Episode We Discuss: Navigating a profession that is predominantly female as male genetic counselors Unique perspectives and contributions that male genetic counselors bring to the field, and how it benefits patients and the overall genetic counseling profession Challenges and stereotypes our guests have faced as male genetic counselors and how they’ve addressed or overcome them How the percentage of male genetic counselors has changed over the years Steps that can be taken to encourage more men to enter the genetic counseling field and to support their growth and success once they are part of the profession Advice for men considering a career in genetic counseling or those who have recently entered the profession How male GCs are impacting the average salary How our guests see the role of male genetic counselors evolving and contributing to the advancement of the genetic counseling field Links to resources and references we mentioned in this episode: Minority Genetics Professional Network (MGPN) NSGC's Professional Status Survey Chen A, Veach PM, Schoonveld C, Zierhut H. Seekers, Finders, Settlers, and Stumblers: Identifying the Career Paths of Males in the Genetic Counseling Profession. J Genet Couns. 2017 Oct;26(5):948-962. doi: 10.1007/s10897-017-0071-1. Epub 2017 Mar 14. PMID: 28289854. Kopesky JW, Veach PM, Lian F, Leroy BS. Where are the males? Gender differences in undergraduates' interest in and perceptions of the genetic counseling profession. J Genet Couns. 2011 Aug;20(4):341-54. doi: 10.1007/s10897-011-9365-x. Epub 2011 Apr 20. PMID: 21505919. Barnett, C., Myers, M. F., Spaeth, C. G., Pilipenko, V., & Bucheit, L. A. (2020). The gendered pay gap in genetic counseling. Journal of genetic counseling, 29(2), 182–191. https://doi.org/10.1002/jgc4.1236. Stay tuned for the next new episode of DNA Today on August 18th, 2023 for our 250th episode fe

In this episode we are learning about Ornithine transcarbamylase (OTC) deficiency, an X-linked genetic disorder that prevents the breakdown and excretion of ammonia. When ammonia builds up in the body, it can rise to toxic levels where it affects the central nervous system. This allows ammonia to accumulate in the bloodstream, rising to toxic levels where it affects the central nervous system. OTC is the most common of the urea cycle disorders. We are joined by three OTC experts with professional and lived experience! Dr. Aimée Dudley is a Senior Investigator at the Pacific Northwest Research Institute (PNRI). Her laboratory performs genetic research that is used to aid variant interpretation. Dr. Andrea Gropman is the Principle Investigator of the Urea Cycle Rare Disease Consortium (UCDC) and the Division Chief of Neurodevelopmental Pediatrics and Neurogenetics at Children’s National Hospital. Tresa Warner provides her personal experience and shares her insight as the mother of a child with OTC deficiency. She also serves as the president of the National Urea Cycle Disorders Foundation. Aimée Dudley, PhD, is a Senior Investigator and the Director of Educational Outreach at PNRI. She earned her BS in biochemistry and molecular biology from the University of Massachusetts at Amherst and her PhD in genetics from Harvard Medical School. Dr. Dudley was an Alexander Hollaender Distinguished Postdoctoral Fellow in Dr. George Church’s laboratory at Harvard Medical School. In addition to her roles at PNRI, Dr. Dudley is a scientific advisor to FenoLogica Biosciences, a scientific instrumentation company founded based on technology developed in her lab. She serves as an Associate Editor at PLoS Genetics. Dr. Dudley also co-chairs the Washington Research Foundation’s Postdoctoral Fellowship Selection Committee. As PNRI’s Director of Educational Outreach, she partners with community groups to bring high school and undergraduate students from underrepresented communities to PNRI to explore science as a career. She also mentors graduate students through her affiliate appointment in the University of Washington’s Department of Genome Sciences, and as a faculty member in the Molecular Engineering Graduate Program and the Molecular and Cellular Biology Graduate Program. Andrea Gropman, M.D., FAAP, FACMG, FANA, is Chief of Neurogenetics and Neurodevelopmental Pediatrics at Children’s National Hospital and a Professor of Pediatrics, Neurology, Genomics and Personalized Medicine at George Washington University. Dr. Gropman is the Principal Investigator of the Urea Cycle Disorders Consortium (UCDC) and serves leadership roles on the Rare Disease Clinical Research Network and in genetic, metabolic and neurology societies. She has published over 200 articles and reviews and contributed chapters to classic textbooks in genetics and neurology. Dr. Gropman is one of the associate editors of the classic textbook, Swaiman’s Pediatric Neurology and co-author of the textbook, X & Y Chromosomal Variations. She received her M.D. from the University of Massachusetts School of Medicine, completed a residency in Pediatrics at Johns Hopkins Hospital in Baltimore, MD and subsequent fellowships in neurology/child neurology at George Washington University and Children’s National, Washington, D.C., clinical and biochemical genetics at the National Institutes of Health, and a mini fellowship in neuroimaging and magnetic resonance spectroscopy at the Huntington Medical Research Institute in Pasadena, CA. She is board certified in neurology/child neurology, genetics, biochemical genetics and neurodevelopmental disabilities. Tresa Warner is a parent of a child living with OTC and the President of the Board of Directors of the National Urea Cycle Disorders Foundation, a non-profit organization dedicated to the identification, treatment, and cure of urea cycle disorders. The foundation was formed in 1988 by a handful of parents whose children were affected by urea cycle disorders and has since become a nationally recognized resource of information and education for families and healthcare professionals. On This Episode We Discuss: Urea Cycle disorders, commonalities and symptoms OTC deficiency overview Diagnosis and treatment of OTC deficiency OTC deficiency and newborn screening panels Variants of uncertain significance in the OTC gene New potential treatments and cures of OTC deficiency Challenges faced by people with OTC deficiency and their families and actions that people with OTC deficiency and their families can do to cope with the challenges of the disease The role of the Urea Cycle Rare Disease Consortium in research and the National Urea Cycle Disorders Foundation in supporting people and families with OTC deficiency Links we mention in the episode: Article: The functional impact of 1,570 individual amino acid substitutions in human OTC Press release: Novel Genetic Screening Tool Offers Hope for Babies Born With Life-Threatening Metaboli

In lieu of this episode, I want to provide you with other DNA Today episodes about DMD. In Episode #156 I interview Rich Horgan. He opens up about his brother’s experience living with DMD and how it inspired him to start Cure Rare Diseases, which is an organization that focuses on developing personalized treatments for rare diseases. In Episode #202 I interview two experts about DMD. Genetic counselor Ann Martin who serves as the VP of Community Research and Genetic Services at Parent Project Muscular Dystrophy. Our other guest is world-renowned geneticist Dr. Madhuri Hegde from Revvity (formerly PerkinElmer Genomics). In this episode we focus on the genetics of DMD and the treatments. Both episodes are linked for you in the show notes. Enjoy!

PART TWO, stream episode #245 before this episode! Some of our most popular episodes over the years of DNA Today are those that provide insight into the genetic counseling graduate program application process. So much has changed since we recorded those episodes back in 2018-2022 (many programs have removed the GRE requirement, interviews are virtual, etc.) these episodes include #87 #97 #101 #193 and #194. That’s why we are revisiting these topics. We are joined by two newly matched genetic counseling students who are starting their graduate programs this fall, Maya Patel and Corinne Merlino! Last week we shared Part 1 of this episode where we discussed mentorship, obtaining letters of recommendation, taking gap years, and more! Definitely check it out before you listen to this episode! Maya Patel will be a student in Thomas Jefferson University’s program. She earned her degree in diagnostic genetics at The University of Connecticut (which is how we connected, I graduated from the same program 6 years ago). Maya is a first-time applicant and is going right from undergrad into her GC program, so she has lots of insight to offer about navigating the application process during a busy senior year. Corinne Merlino’s name is probably familiar to you as she is our Communications Lead! Corinne writes the blog posts for each episode and leads our social media team. Corinne is also a Clinical Research Coordinator at The Palliative and Advanced Illness Research (PAIR) Center at The University of Pennsylvania where she has worked for 3 years. She is continuing her career at Penn by joining their genetic counseling class this fall! Corinne was a second-time applicant this cycle and after not matching and taking multiple gap years, she can speak to how to spend that time in an intentional and meaningful way. Congratulations to both of our guests on matching, this is especially exciting for our host, Kira Dineen, who had the privilege of mentoring both Maya and Corinne through their application process! Become a mentee of Kira’s here. Special shoutout to our listeners who submitted questions for our guests to answer, Mahfuz, Grace, Anna, Elizabeth, Crystal, Sophie, Kelci, Riley, Christina, and Aciana. In the second part of our conversation we discussed…. Crafting a great personal statement Networking Applying multiple times Tips for taking care of yourself Helpful advice our guests were given and advice they’d like to share with future applicants During the show, Corinne and Maya talked a lot about how mentorship was a vital tool during their application cycle. One of their mentors was (and continues to be) our host Kira Dineen. If you would like to have this mentorship, join our Patreon here! Keep up with our guests during their grad school journeys by following Corinne on Twitter and LinkedIn and Maya on LinkedIn. Both Corinne and Maya would be happy to answer additional questions about their application processes, just send them a DM! You can also check out this αrticle where Maya talks about her experience as a student in the Diagnostic Genetics Program at UConn, and stay tuned this Fall when we’ll be sharing Corinne’s interview on the It Happened To Me Podcast! Stay tuned for the next new episode of DNA Today on July 28th, 2023 where we’ll be joined by Dr. Susan Apkon & Melissa Gibbons for a conversation about Duchenne Muscular Dystrophy! New episodes are released every Friday. In the meantime, you can binge over 245 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Some of our most popular episodes over the years of DNA Today are those that provide insight into the genetic counseling graduate program application process. So much has changed since we recorded those episodes back in 2018-2022 (many programs have removed the GRE requirement, interviews are virtual, etc.) these episodes include #87 #97 #101 #193 and #194. That’s why we are revisiting these topics. We are joined by two newly matched genetic counseling students who are starting their graduate programs this fall, Maya Patel and Corinne Merlino! Maya Patel will be a student in Thomas Jefferson University’s program. She earned her degree in diagnostic genetics at The University of Connecticut (which is how we connected, I graduated from the same program 6 years ago). Maya is a first-time applicant and is going right from undergrad into her GC program, so she has lots of insight to offer about navigating the application process during a busy senior year. Corinne Merlino’s name is probably familiar to you as she is our Communications Lead! Corinne writes the blog posts for each episode and leads our social media team. Corinne is also a Clinical Research Coordinator at The Palliative and Advanced Illness Research (PAIR) Center at The University of Pennsylvania where she has worked for 3 years. She is continuing her career at Penn by joining their genetic counseling class this fall! Corinne was a second-time applicant this cycle and after not matching and taking multiple gap years, she can speak to how to spend that time in an intentional and meaningful way. Congratulations to both of our guests on matching, this is especially exciting for our host, Kira Dineen, who had the privilege of mentoring both Maya and Corinne through their application process! Become a mentee of Kira’s here. Special shoutout to our listeners who submitted questions for our guests to answer, Mahfuz, Grace, Anna, Elizabeth, Crystal, Sophie, Kelci, Riley, Christina, and Aciana. In the first part of our conversation we discussed… What inspired our guests to become genetic counselors What types of people/characteristics programs look for in their applicants Criteria to use when narrowing down programs to apply to The importance of mentorship during this process Applying while in undergrad versus taking gap years Approaching recommenders to write letters on your behalf Academic components of an application Obtaining GC experience (shadowing, informational interviews) The second part of our conversation will focus on crafting your personal statement(s). This part 2 will be dropped on the podcast feed next Friday on July 21st. Can’t wait to listen? Head over to our YouTube channel where both parts were released together in one video (so fast forward to about 34 minutes to pick up where you left off). During the show, Corinne and Maya talked a lot about how mentorship was a vital tool during their application cycle. One of their mentors was (and continues to be) our host Kira Dineen. If you would like to have this mentorship, join our Patreon here! Keep up with our guests during their grad school journeys by following Corinne on Twitter and LinkedIn and Maya on LinkedIn. Both Corinne and Maya would be happy to answer additional questions about their application processes, just send them a DM! You can also check out this αrticle where Maya talks about her experience as a student in the Diagnostic Genetics Program at UConn, and stay tuned this Fall when we’ll be sharing Corinne’s interview on the It Happened To Me Podcast! Stay tuned for the next new episode of DNA Today on July 21st, 2023 where we’ll be sharing the second installment of this series on genetic counseling program applications! New episodes are released every Friday. In the meantime, you can binge over 245 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Step into our time machine as we transport you back to the early heydays of genetic counseling (aka the 70s) with our esteemed guest, Virginia Corson. Virginia is a veteran genetic counselor who has weathered the changing tides of this field over the last 50 years, and she's here to share her incredible journey with us. Virginia has spent the vast majority of her career as a prenatal genetic counselor at Johns Hopkins School of Medicine. She has written countless publications with original research, case reports, book chapters, and professional society statements. She earned her Master’s of Science through the OG genetic counseling program, Sarah Lawrence College (which I also graduated from a few years ago). Get ready to gain an insightful perspective into the pioneering days of the profession, the challenges of a nascent field, and how Virginia carved her niche in a time devoid of the technological conveniences we take for granted today. We'll be journeying through Virginia's academic odyssey at Sarah Lawrence College's one-year program, packed with clinical rotations and field work. Experience the nascent use of ultrasound in prenatal care and how the advent of molecular testing revolutionized prenatal testing, despite the rather limited scope of genetic counseling during the late 1970s. Virginia’s wealth of knowledge is sure to enlighten us all about the critical importance of the field's continued evolution and development. In the last leg of our conversation, Virginia uncovers the intriguing aspects of her various clinical rotations and field work, discussing the glaring absence of molecular genetics and cancer genetics courses at the time. She stresses the significance of lifelong learning for genetic counselors and provides a sneak peek into a typical day in her early career. We'll also delve into the evolution of genetic counseling sessions, the ethical and legal considerations during the 1970s, and even a surprising moment when Virginia found herself on the front cover of the Wall Street Journal. So, buckle up for this enlightening chat with Virginia Corson, and get ready to unravel the captivating world of genetic counseling! Episode Chapters (0:00:02) - Exploring Genetic Counseling in the 1970s (12 Minutes) Virginia Corson, a seasoned genetic counselor with decades of experience in the field, shares her journey of learning about genetic counseling in the 1970s, a time when the field was still in its infancy. We discuss the landscape of the field at the time, with very few places hiring genetic counselors and no computers or emails to make job search easier. Virginia recounts how she sent out 40 individual cover letters to potential employers and eventually got a job offer from Johns Hopkins. We explore the challenges of entering a new field and the changes the profession has gone through over the last 50 years. (0:11:37) - Prenatal Testing and Genetic Counseling Evolution (6 Minutes) Virginia Corson shares her experience of attending Sarah Lawrence College's one-year program, which was packed with clinical rotations, field work, and electives. We also explore the early uses of ultrasound in prenatal care and how molecular testing has allowed for more accurate prenatal testing. In the late 1970s, genetic counseling was limited in terms of testing and topics available. (0:17:39) - Genetic Counseling in the Past (8 Minutes) Virginia Corson talks about the various clinical rotations and field work she completed as part of the one-year program at Sarah Lawrence College. She had the opportunity to visit Mount Sinai Hospital, Albert Einstein Hospital, and Creedmoor Institute, where she interviewed people at-risk for Huntington's Disease. Virginia also discusses the lack of molecular genetics and cancer genetics courses at the time and the importance of continuing education for genetic counselors. She shares what a typical day was like for her, which included taking family histories, discussing testing options, and navigating the four-week waiting period for amniocentesis results. (0:25:50) - Evolution of Genetic Counseling (8 Minutes) We discuss the changes in genetic counseling sessions over the years, from the early 1970s when carrier screening was much simpler to the present day, where there are hundreds of tests offered. Virginia Corson shares the story of her 15 minutes of fame when she was featured on the front cover of the Wall Street Journal in the late 1980s. The journalist wanted to make the article more personal and interviewed her, and how it ended up being a front page article. We also explore the ethical and legal considerations in the 1970s, such as the debate around whether genetic counselors could counsel independently without a doctor present, as well as the establishment of the National Society of Genetic Counselors. Finally, we talk about the exams Virginia and the other geneticists took, which was the same core exam and then a separate genetic counseling exam. This episode is part

We are closing out Pride Month with a recent installment of the PhenoTips Speaker Series. DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 24th installment of the PhenoTips’ Speaker Series, “Navigating Barriers in LGBTQIA+ Genetic Care”. A 2018 Harvard study found that nearly 1/6th of LGBTQIA+ adults have experienced discrimination in a healthcare setting, while 1/5th have avoided seeking medical care out of fear of discrimination. Efforts have been made in recent years to improve the cultural competency of genetic professionals, however, barriers to compassionate care for LGBTQIA+ individuals persist. In an environment of changing healthcare legislation and increased hostility towards the LBGTQIA+ community, creating a safe space for patients is more challenging than ever. Panelists: Dr. Jehannine Austin (they/them) Executive Director of BC Mental Health, Professor in Psychiatry & Medical Genetics at the University of British Columbia Andy Cantor, CGC (she/they/he) Senior Genetic Counselor & Certified Trainer on Trans and Non-Binary Competency at Labcorp Josephine Giblin, CGC (she/her) Genetic Counsellor at NHS Bristol Katie Gallagher, CGC (she/her) Assistant Program Director at Sarah Lawrence College In this episode’s panel discussion moderated by Kira Dineen, our panel of international experts and advocates discusses: Protecting patients during times of unprecedented legislation Creating psychologically safe and inclusive environments Supporting access to equitable care Representation in family history collection Resources and best practices to support LBGTQIA+ colleagues and patients Last year we also celebrated pride month with PhenoTips. In Episode #189 we interviewed two experts from PhenoTips, Orion Buske and Erica Peacock about building inclusive pedigrees. We also released last year’s PhenoTips Speaker Series Pride installment on Episode #190, which focuses on providing gender affirming care, specifically in the genetic counseling space. As a queer member of the LGBTQIA+ community, our host Kira Dineen is excited to share all these episodes, including this week’s! These webinars are sponsored by PhenoTips. During these live events we interview leaders in the field of genetics and moderate questions live from the audience. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last three years. Stay tuned for the next new episode of DNA Today on July 7th where we continue our History of Genetic Counseling Series, this time joined by seasoned genetic counselor Ginny Corson! New episodes are released every Friday. In the meantime, you can binge over 240 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In 2020, a direct-to-consumer DNA test revealed that our guest Richard Wenzel's father was not his genetic father. Moreover, evidence indicates that his conception resulted from a sexual assault of his mother and that his pediatrician (who was also his mother's obstetrician) helped conceal this crime; unfortunately, all involved individuals are deceased. Since that troubling discovery, Richard has dedicated his efforts towards increasing education and awareness among medical professionals about the harms of false genetic narratives, identifying opportunities to improve the care provided to children/adults incurring a false narrative, and urging for research. Richard Wenzel, Pharm.D., CPPS, is an accomplished clinician, researcher, educator, lecturer, and mentor in the profession of pharmacy, whose expertise includes hospital practices, headache disorders, and patient safety, as well as the evolving realm of direct-to-consumer genetic testing. He has authored or co-author approximately 50 peer-reviewed publications in medical and pharmacy journals including Phase III and post hoc medication research, systematic literature reviews, clinical narratives, and opinion piece articles.He has also given more than 100 presentations at national, state, and local-level medical professionals’ (pharmacist, physician, physician assistant, nursing) meetings as well as lectures at U.S. and international Colleges of Pharmacy. Richard is a recipient of the American Pharmacists Association’s "One-to-One Patient Counseling Award" and is a two-time nominee for the American Association of Colleges of Pharmacy "Master Preceptor" award and a university’s "Preceptor of the Year" recipient, having successfully provided clinical rotation site education to more than 600 pharmacy students! On This Episode We Discuss: Richard’s personal journey of discovering his misattributed paternity How this discovery has affected his perception of his relationship with his mother and childhood experiences Wrestling with the discovery of misattributed paternity when the parents are deceased Guidelines that healthcare providers follow regarding the disclosure of misattributed parentage Benefits and harms that need to be considered when deciding whether to disclose misattributed parentage How the discovery of misattributed parentage can impact individuals, particularly children, and their sense of identity Available support and resources for individuals who have discovered misattributed parentage, and what more needs to be done to assist them Advice for others who are in the midst of a not-parent-expected discovery and for healthcare providers on the other side of this Richard Wenzel’s Resources American Medical Association Code on Ethics of Collecting Family History American Academy of Pediatrics’ Article on the Pediatrician’s Role on Patient and Family Centered Care American Academy of Pediatrics “Value of Family Medical History and adoption as a barrier to accurate history” Jodi Girard’s Narrative & Kara Rubenstein Narrative American Society of Human Genetics Position Statement and Article American Society for Reproductive Medicine Position Statement American College of Medical Genetics and Genomics Position Statement Organizations include donordeceived.org and womenagainstpaternityfraud.org Shepard, A., Diamond, D., Willard, L., Staples, J., Martin, K., & Witherspoon, N. (2022). Discovering Misattributed Paternity After DNA Testing and its Impact on Psychological Well-Being and Identity Formation. American Journal of Qualitative Research, 6(3), 189-211. https://doi.org/10.29333/ajqr/12611 Avni C, Sinai D, Blasbalg U, Toren P. Discovering your presumed father is not your biological father: Psychiatric ramifications of independently uncovered non-paternity events resulting from direct-to-consumer DNA testing. Psychiatry Res 2023;323:115142. Lawton B L, Pyott L C, Deyerin K R, Foeman A K. Experiences of Misattributed Parentage Communities: Impacts of Discovering New Familial Kinships. Journal of Family History 2023: epub ahead of print; doi.org/10.1177/03631990231156176. Grethel, M., Lewis, J., Freeman, R., & Stone, C. (2022). Discovery of unexpected paternity after direct-to-consumer DNA testing and its impact on identity. Family Relations, 1– 17. https://doi.org/10.1111/fare.12752 Klugman-Rabb, Jodi, "A Qualitative Study on the Effect of Misattributed Parentage Experiences" (2023). Collected Faculty and Staff Scholarship. 354. https://scholar.dominican.edu/all-faculty/354 Family Secrets: Exploring unexpected paternity through direct-to-consumer DNA ancestry tests. Gina Daniel, Masters Thesis, https://millersville.tind.io/record/6411/files/Gina%20Daniel.pdf Semikhodskii A, Makarova T, Sutyagina D. Paternity pseudo-exclusion caused by tetragametic chimerism in a gestational surrogacy case. Eur J Med Genet. 2023 Jun 3;66(8):104799. doi: 10.1016/j.ejmg.2023.104799 Sheets KM, Baird ML, Heinig J, Davis D, Sabatini M, Starr DB. A case of chimerism-induced

With Father’s Day coming up this Sunday, it’s only fitting that this week’s guest is famous for coining the phrase, “You are (or are not) the father!” We sat down with the one and only Maury Povich live in NBC’s Stamford Studios (where Maury has his own show on the network) for a discussion about paternity testing! Maury is a household name and an icon in the world of talk shows. For over 30 years, he has been bringing the truth to light and resolving some of the most challenging and sensitive issues on national television with the Maury Show. He has become known for his expertise in paternity testing, helping people across the United States determine the truth about their biological relationships. He is a trailblazer in his field, and his show has become synonymous with the catchphrase, "You are the father!" On This Episode We Discuss: What motivated Maury pursue hosting a talk show featuring paternity testing The origin of the line, “You are (not) the father” The emotional impact of revealing paternity results to the participants, and what it's like to witness these highly charged moments What motivates people to come on the show to have paternity testing performed publicly, rather than seeking private testing The perspective of the pregnant person seeking paternity testing versus the perspective of the alleged father, and the challenges this presents when performing the tests Psychological factors that may be at play when people seek paternity testing, and how these can impact the outcomes of the testing? Stories that stand out to Maury in his decades of providing paternity tests The frequency of maternity tests and the circumstances on the show that lead to questionable maternity Maury’s advice for individuals who are considering seeking paternity testing, either privately or through a public platform like his show You can keep up with The Maury Show on Twitter, Facebook, Instagram, YouTube, and Snapchat! You will also see Kira featured on the channels commenting on genetics behind paternity testing including commentary on a few virtual segments of The Maury Show. Stay tuned for the next new episode of DNA Today on June 23rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 240 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Joining us for this episode is Sneha Dave, Founder and Executive Director of Generation Patient, an organization that facilitates events, online programs, and advocacy initiatives for young adults living with chronic and rare conditions to ensure that they have the opportunities and resources to thrive. Sneha Dave (she/her) graduated from Indiana University in May 2020 where she majored in chronic illness advocacy as well as journalism. She created the Generation Patient and its program the Crohn’s and Colitis Young Adults Network (CCYAN) to create support systems for adolescents and young adults with chronic conditions across the U.S. and internationally. She is proud to work with a team composed entirely of young adults with chronic medical disabilities and to keep Generation Patient transparent and independent from the pharmaceutical and insurance industry. Sneha has completed an undergraduate research fellowship in health policy at Harvard T.H. Chan School of Public Health. She has also interned at numerous places such as Pfizer Global Headquarters in health economics and outcomes research for Inflammation and Immunology. Sneha has spoken on Capitol Hill, featured nationally on C-SPAN, and is a past contributor for U.S. News and World Report. She has served on the Democratic National Committee Disability Policy Subcommittee and she is part of the Midwest Comparative Effectiveness Public Advisory Council, an independent appraisal committee of the Institute for Clinical and Economic Review. Sneha also serves on the patient engagement collaborative for the FDA. She was previously a national policy fellow at RespectAbility and now serves as the youngest director on the board for the national nonprofit. Sneha has won multiple awards for her advocacy work, so we are pleased to have her featured here on DNA Today! Shoutout to our Communications Lead, Corinne Merlino, for recommending Sneha Dave to be our guest. On This Episode We Discuss: Sneha’s personal experience with ulcerative colitis and how it led to becoming a patient advocate The mission and goals of Generation Patient and the Crohn's and Colitis Young Adults Network Some of the biggest challenges facing young adults living with chronic and rare conditions today The importance of increased representation of young adults in clinical trials and the impact it can have on the development of treatments Potential harms of DTC pharma advertising on Instagram and TikTok to young viewers and what can be done to mitigate that harm How the Generation Patient team ensures that the organization remains independent from the pharmaceutical and insurance industry How Sneha and her team at Generation Patient engages with the FDA Advice for young adults living with chronic or rare conditions who may feel isolated or unsupported in their experiences Advice for other young professionals that are seeking ways to be more involved and gain experiences in healthcare You can learn more about Generation Patient and their different initiatives at the links below: Generation Patient's website Community and resources for college students with chronic conditions Registration for Generation Patient's 2023 Virtual Health Advocacy Summit The Crohn’s and Colitis Young Adults Network Be sure to follow Generation Patient on Twitter, Facebook, and Instagram and our guest, Sneha Dave, on Twitter! Stay tuned for the next new episode of DNA Today on Friday, June 16th, 2023 where our host Kira Dineen sits down with a household name and an icon in the world of talk shows. New episodes are released every Friday. In the meantime, you can binge over 240 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. You can learn more in episodes 208, 210, and 237 of DNA Today! Use Promo code “DNATODAY” to get $800 off your subscription, that’s a discount of 80% exclusively to DNAToday listeners. Go check it out at trakgene.com. (Sponsored)

We are joined again by Janice Berliner joining us again on DNA Today. She was a guest on Episode 152 where we talked about her debut novel, Brooke’s Promise. In this episode we are chatting about her second novel, In Good Conscience, which features genetic counseling! Aside from being a novelist, Janice Berliner is a board certified genetic counselor with more than 32 years of experience. In her roles as both a clinician and as the Director of the Master of Science in Genetic Counseling Program at Bay Path University. Her novels derive from her expertise working with families facing the risk of disease, and the intensely personal and life-altering nature genetic illness can have on family relationships. On This Episode We Discuss: How Janice’s genetic counseling experience influenced and inspired her while writing In Good Conscience The concept of “Duty To Warn” and how this applies in the genetics space Protections that celebrities have against people sharing their private information in public media spaces Support and resources available to genetic counselors when facing complex situations involving the duty to warn How advancements in genetic testing technologies and the availability of direct-to-consumer genetic testing impact the duty to warn Tease of Janice’s next novel Advice for applicants on matching from a program director During the interview Janice mentioned a few cases of breached health data from healthcare workers. In 2007, Palisades Medical Center in New Jersey suspended 27 employees for a month for looking at George Clooney’s medical records after he had been treated for injuries sustained in a motorcycle accident (NY Times). In 2008, UCLA Medical Center fired or suspended more than 25 employees, including 6 physicians, for snooping in Britney Spears’ medical records during her stay in their psychiatric unit (LA Times). Again in 2010, UCLA Medical Center was fined $95,000 for failing to stop employees from accessing Michael Jackson's records. Two hospital workers and two contract employees were terminated (LA Times). Janice also mentioned the National Society of Genetic Counselors (NSGC) Code of Ethics. We both recommended GC Prep (one of our sponsors) for mentorship and resources on genetic counseling graduate school application process. GC Prep’s Mikayla Stoecker and Janelle Villiers were guests on Episodes #193 and #194 sharing application advice. DNA Today’s Patreon also includes one-on-one mentorship with our host Kira Dineen, you can sign up here. Kira also mentioned a few other DNA Today episodes including #234 Genetic Counseling History: 1st NSGC Conference and #235 Genetic Counseling History: ABGC Formation, To learn more about Janice and In Good Conscience, visit her ​​website, or check her out on Twitter, Facebook, LinkedIn, and Instagram. We will also give away 5 copies of her book on our social media channels. Search @DNATodayPodcast to enter on Instagram, LinkedIn, and Twitter! There’s a pic of our host, Kira, with the book on the beach, yes it’s a great beach read! Can’t wait to see if you won, buy the book here on Amazon (don’t forget to leave a review there and on Goodreads). Stay tuned for the next new episode of DNA Today on June 9th, 2023. New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. You can learn more in episodes 208, 210, and 237 of DNA Today! Use Promo code “DNATODAY” to get $800 off your subscription, that’s a discount of 80% exclusively to DNAToday listeners. Go check it out at trakgene.com. (Sponsored) Did you know that among patients with documented mild cognitive decline, about one-third progress to a diagnosis of Alzhiemer’s Disease? As the Alzheimer’s and dementia field evolves, new diagnostics are being developed working to provide answers in more and more accessible ways. Quest Diagnostics is leading the way in making Alzheimer's testing accessible through assessing biomarkers like ApoE isoforms and Beta-Amyloid plaques with blood instead of spinal fluid. Learn more about A

We want to take a moment to express our appreciation to all our incredible listeners. We have been enjoying getting to know some of you through our Patreon. As a patron you can gain benefits that take your DNA Today experience to the next level including our exclusive monthly club, behind the scenes podcast views, input on future episodes including interview questions, one on one mentorship with me, physical merch, and more! Speaking of our patrons, we want to give a special shoutout to some awesome listeners who have already joined us: Matthew, Hannah, Lynn, Sanya, Molly, Emily, Amanda, Ash, Cristina, and Wesley. Your support means the world to us, and we couldn't be more grateful for your contribution. It helps support the show and builds our engaging community. So join us here! In this episode we are discussing secondary findings and a study exploring what they mean for the patients who receive them. Joining us for this discussion is Caralynn Wilczewski who is a genetic counselor for the Reverse Phenotyping Core and the Genomic Services Research Program in the National Human Genome Research Institute in the National Institutes of Health. In her current role, she provides genetic counseling and coordinates clinical research that uses a genotype-first approach to advance the goal of predictive genomic medicine. She obtained her bachelor’s in Molecular Biology with Honors from Loyola University Chicago and her PhD in Genetics and Molecular Biology from University of North Carolina at Chapel Hill. She then obtained a Master’s degree in Genetic Counseling from the joint program at Johns Hopkins University and the National Institutes of Health. Also joining us is Andrea Alvarez, a participant in the Genomic Services Research Program. Andrea joined a genetic sequencing study at Morehouse College and received an unexpected genetic test result which Alvarez will discuss in this episode! In this episode we are discussing secondary findings, and a study exploring what they mean for the patients who receive them. Stay tuned as we will have another secondary findings installment coming soon to DNA Today! On This Episode We Discuss: Population health studies and how they help us understand the role of genetics in disease risk and prevention Secondary findings and how someone might receive one Opting in/out regarding the reveal of secondary findings in population health studies What happens after someone finds out they have one of these unexpected genetic risk factors Andrea’s experience with receiving a surprising secondary finding and how it has impacted her life Support and next steps for people after the receive a secondary finding The Genomic Services Research Program’s study for patients with secondary findings and what it can offer to folks who participate How we can ensure that population health studies related to genetics are conducted in a way that is inclusive and representative of diverse populations If you’d like to learn more about secondary findings, check out the ACMG Recommendations for Reporting of Incidental Findings in Clinical Exome and Genome Sequencing and this news article! Join or refer a patient to the Genomic Services Research Program (GSRP) study on secondary findings by filling out this survey. More resources below! Secondary findings resources for listeners: Clinicians List of ACMG secondary findings genes ClinGen Actionability Knowledge Repository: Search by gene or condition for brief summaries of most secondary findings conditions and risks with recommendations for surveillance, management, and treatment. ACMG ACT sheets: Short summaries of a few secondary findings genes and conditions with instructions on next steps for clinicians whose patients receive one of these results. Secondary findings resources for listeners: Patients MedlinePlus Genetics: What are secondary findings from genetic testing? MedlinePlus Genetics: Patient-friendly information about genetic conditions and how genes can play a role in our health. If you’re interested in learning more about the Genomic Services Research Program and their study about secondary findings, please email them ([email protected]), call or text 240-408-0447, or visit genome.gov/GSRP. Stay tuned for the next new episode of DNA Today on June 2nd, 2023 where we’ll be joined by Janice Berliner to discuss her latest novel, In Good Conscience, a genetics novel! New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook,

We are in the final days to sign up to our Patreon to still be eligible for our bonus physical gift, DNA Today merch! This is on top of the annual physical gift you will get if you end up picking our Chromies tier level. And yes I had a ton of fun coming up with the tier names. The top merch asked for by listeners are t-shirts, mugs, stickers, thermoses, and lanyards (mostly to wear during conferences). By becoming a patron you can influence which physical gift we end up picking and you will get your very own! Plus I am going to throw in a handwritten letter as a thank you for supporting the show. Of course there are tons of other benefits, but I know this is one that is very exciting for many listeners. The show has been around 10 years so it’s about time we have merch available! Shoutout to our new Patreons Molly, Emily, Cristina, Wesley , Hannah, Amanda, Lynn, Ashlyn, and Sanya! Join our Patreon community here. If you sign up by May 25th I will throw in an extra gift in the mail for you! This week Michelle Bowman, a cancer genetic counselor from Sydney, Australia, joins us for a conversation on how to utilize digital tools to reach patients who can benefit from cancer genetic counseling. Michelle Bowman (she/her), has been a practicing cancer genetic counselor at Western Sydney Local Health District for over 15 years. Michelle is interested in diversity, equity, inclusion and justice issues in health care and genetics, and she is also interested in emerging models of care and eHealth. Michelle holds a committee membership at eHealth NSW, which is NSW Health’s digital centre of excellence. She received her graduate degree in genetic counseling from the University of Melbourne. On This Episode We Discuss: How medical and genetic systems are different between countries New and emerging models of care and eHealth technologies that are transforming the field of cancer genetic counseling How digital tools can be utilized to reach patients who may not have access to traditional in-person genetic counseling services, particularly in rural or underserved areas Using digital pedigree software (like TrakGene) to help address some of the challenges in providing accessible care to diverse patient populations, particularly those with complex family histories or limited access to traditional healthcare services Improving the accuracy and completeness of family health history data with digital pedigree software and the benefits this offers for patient care How digital pedigree software can help to promote health equity and reduce health disparities among diverse patient populations Challenges and benefits of incorporating these digital tools into the genetic counseling process How eHealth tools can be used to improve patient education and increase patient engagement in the genetic counseling process Ensuring that these new approaches to genetic counseling are accessible and equitable for all patients, regardless of their socio-economic status or geographic location Advice for patients who are considering genetic counseling and how they can best utilize the resources available to them, whether in-person or through digital platforms The Centre for Genetics Education has many great resources including the Genetic Service Finder for Australia with their list of services. Public and private providers are listed on the Human Genetics Society of Australasia’s website. Check out the life insurance products she mentioned. Here are the EviQ Referral guidelines for cancer genetics she also referenced. Michelle recommends this paper about genetic testing for ovarian cancer. You can follow our guest, Michelle Bowman on ​LinkedIn. Stay tuned for the next new episode of DNA Today on May 26th, 2023, where we’ll be discussing ​​secondary findings with BRCA! New episodes are released every Friday. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. You can learn more in Episodes 208 and 210 of DNA Today! Use Promo code “DNATODAY” to get $800 off your subscription. That’s a discount of 80% exclusive

If you are listening to a genetics podcast, then I know you are a nerd that also likes reading genetic books and watching genetics movies and shows. There aren’t many genetics clubs out there for nerds like us, so we launched a Patreon where we could do just that! This is the benefit that was asked for the most when we were designing our Patreon was an exclusive monthly club where we chat about a genetics book or movie or we focus on mentorship in becoming a genetic counselor (like application/interview insight and boards prep). So if you want to be in these live Zooms with me and our team, sign up now! Shoutout to our new Patrons Molly, Emily, Cristina, Wesley , Hannah, Amanda, Lynn, Ashlyn, and Sanya ! Join our Patreon community here. If you sign up by May 25th I will throw in an extra gift in the mail for you! Join our Patreon community here. If you sign up by May 25th I will throw in an extra gift in the mail for you! Alzheimer’s is the most feared health condition of later life among retirees, ranking higher than COVID-19, cancer, heart attack and stroke (Reference). Answers from risk assessments and diagnostic testing can help clinicians and those dealing with cognitive decline in themselves or loved ones choose a path forward. As the Alzheimer’s and dementia fields evolve and as new therapies come out, new diagnostic tools are also being developed with the goal of providing answers that are accessible. With all of these new diagnostic advancements, it can be challenging for clinicians to determine what to order and when. Susan Hahn, a genetic counselor and expert in the field of Alzheimer’s disease, is joining us from Quest Diagnostics to speak on the newest risk assessment advances including some recently launched tests from Quest and what patient types they make the most sense for. Providing the patient perspective, we have Rebecca Chopp joining us from the University of Chicago. Rebecca was diagnosed with Alzheimer’s about three years ago, and currently serves on the board of Voices of Alzheimer’s as an advocate. She’ll be joining us to speak on her experience receiving a diagnosis and how she has since learned to “live with joy”. Rebecca Chopp, Ph.D., is a widely published author, editor, and academic in the fields of education, philosophy, religion, and feminism. She served as the 18th, and first female, Chancellor of the University of Denver. She was additionally President of Swarthmore College and Colgate University, and she served as Provost and Executive Vice President for Academic Affairs at Emory University and as a Dean at Yale University. Chopp has served on the Governing Board of the Association of American Colleges and Universities, Olin University, The Carnegie Foundation for the Advancement of Teaching, and American Council on Education. Currently, Rebecca is an Alzheimer's Advocate who serves on the Board of the Colorado Alzheimer's Association, paints classical portraits and hikes, bikes and walks Buhdy, her dog. An ordained minister, she is currently working on a book entitled Art, Spirit, Body: Ways to Live While Dying from Alzheimer's. Susan Hahn, MS, CGC is a highly accomplished, strategic, and charismatic genetics professional who spent the past two decades initiating and leading research, outreach, education, and policy activities to facilitate and expand the responsible translation of genomic medicine in the clinical setting. She has published numerous peer-reviewed articles, encyclopedia entries and chapters. As a result of her long-standing interest in professional, public, and childhood education, she has development and administered numerous undergraduate and graduate courses, public outreach events, web resources, conferences, and print materials. As an active leader, Susan has Chaired or Co-chaired numerous committees and task forces for ABGC and NSGC. In 2014, she was President of the American Board of Genetic Counseling. Susan currently works for Quest Diagnostics as Director of Health Economics and Outcomes Research. On This Episode We Discuss: An overview of Alzheimer's disease, how it affects the brain and cognition, and some of the early signs and symptoms Genes implicated in Alzheimer’s disease and how they are inherited The relationship of the APOE gene to Alzheimer’s disease and the three alleles (e2, e3, e4) and how they correlate to risk for developing the condition Chris Hemsworth and the APOE e4 allele Recommendations for pursuing genetic testing and the limitations of these tests Quest’s diagnostic blood test and future applications Recommendations to mitigate risk in individuals that have 1 to 2 copies of the e4 version of the APOE gene Options for people diagnosed with Alzheimer’s disease Rebecca’s diagnostic odyssey, how she has coped with her diagnosis, and how art and spirituality have aided in her positive mindset You can connect with our guest, Susan Hahn, on Twitter and LinkedIn. If you’re interested in learning more about Quest Diagnostics and th

If you are one of the listeners that tune into DNA Today every week, then you definitely know by now we have launched our Patreon. This is where you can not only get bonus content from DNA Today, you can get early access to episodes before the public. You also get to influence the content of the show, this includes episode topics and guests plus pitching questions I ask during interviews, and of course I will give you a shoutout when I ask your question. Oh and if you sign up by May 25th you get a bonus physical gift! For these benefits and more you can visit our Patreon, link is in the show notes and on our website DNAToday.com. We are continuing our peek into the past! Last episode we explored the history of the genetic counseling field with Michelle Fox and Debra Collins who shared about the first annual National Society of Genetic Counselors (NSGC) conferences. In this episode we are learning about the formation of the American Board of Genetic Counseling (aka ABGC) with Ann Walker and Ed Kloza. Ann Platt Walker, MA, LCGC has held many leadership positions including the Founding President and Director of the American Board of Genetic Counseling (ABGC), President of the National Society of Genetic Counselors (NSGC) in 1982, and has been on the Board of Directors for the American Board of Medical Genetics (ABMG), American Society of Human Genetics (ASHG), and the American Council for Genetic Counseling (ACGC). During Ann’s career she held roles at the University of California, Irvine Medical Center including as the program director for the Master’s of Science in Genetic Counseling Program for over two decades. She has authored over 20 peer reviewed publications, 10 book chapters, and countless abstracts and presentations. Ann has been awarded many times through her impressive career including the Natalie Weissberger Paul National Achievement and Leadership Awards from NSGC. Ed Kloza, MS, LCGC was the first genetic counselor in Maine. He helped establish clinical genetics in Southern Maine and pioneered prenatal serum screening at the Foundation for Blood Research in Scarborough, and was a member of the team from Women & Infants Hospital of Rhode Island which published the first international clinical validation study of cell-free DNA screening. He was key in the development of the genetic counseling profession including as a past president of NSGC (the first, and one of only two males elected to that position), and in helping create the American Board of Genetic Counseling (which we are focusing on today). In 2000, Ed was honored with the Natalie Weissberger Paul National Achievement Award. Currently Ed is the genetics education consultant for the New England Regional Genetics Network (NERGN) and is an adjunct Professor at Bay Path University with their graduate Genetic Counseling program. On This Episode We Discuss: The ABGC versus the NSGC and which came first! The early days of board exams What prompted the creation of the ABGC in 1992 Challenges in forming ABGC The original goals of ABGC as an organization The first ABGC president and other key players When ABGC began to accredit genetic counseling programs Establishing practice-based competencies If you want to learn more about the history of the GC field, check out Episode 136 with Linda Robinson . Episode 31 with Robin Schwartz also gives a great overview of the field. You can learn more about ABGC by heading to their website, or by following them on Twitter, Facebook, and LinkedIn. Stay tuned for the next new episode of DNA Today on May 12th, 2023, where we’ll be discussing risk assessment advances for Alzheimer’s disease! New episodes are released every Fridays. In the meantime, you can binge over 235 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored) As many of you know through podcasting I have become an entrepreneur including

Congratulations to everyone who matched with a genetic counseling program last week! Special shoutout to our Communications Lead, Corinne Merlino, for matching with the University of Pennsylvania! Check out DNA Today Episode #101, Genetic Counseling Match Day, to prepare you to start grad school. We also provide advice for applicants that didn’t match in this cycle and offer inspiration to apply next round. In the spirit of recent matches, upcoming graduation, and DNA Day we thought it was time for another giveaway! This time we are giving away GC Genius' top two study materials: their study guide and flashcards featuring the top 100 genetic conditions to know. Enter on Instagram, Twitter, and LinkedIn before May 2nd! You can even enter on all three to increase your chances of winning. Fun Fact: The flashcards were co-created by Ashlyn Enokian, MS, CGC, who designed our DNA Today logo! She is also a genetic counselor featured on DNA Today Episodes 101, 111, 135, and 212. Can’t wait to see if you won? Use the code “DNATODAY” for a discount in the GC Genius Etsy store through May 31st, 2023. —--------------------------------------------------------------------------------------------------------------------------- We are going back in time in this episode of DNA Today to explore the history of the genetic counseling field. In part 1 of this 2-part series, we are focusing on the first annual conference for the National Society of Genetic Counselors which was in 1981, 54 years ago! Joining me are two rockstars in the field of GC, Michelle Fox and Debra Collins! Michelle Fox, MS, CGC, is an Adjunct Associate Professor of Pediatrics at UCLA. For over 30 years, Michelle coordinated the UCLA Genetics Clinic, providing genetic counseling services to both pediatric and adult populations, including the UCLA Predictive Huntington Disease Testing Program, early onset Alzheimer and genetic neurodegenerative disorders. She is also a faculty member of the UCLA Genetic Counseling Program. Michelle served on the Secretary’s Advisory Committee for Heritable Disorders of Newborns and Children Follow-up and Treatment sub-committee and on the National Society of Genetic Counselors Public Policy Newborn Screening Task Force in 2014. She was a member of the Western States Regional Genetics Network from 2010-2013. Michelle served on the American College of Medical Genetics and Genomics Hearing Loss Guidelines Committee (2013), the American Board of Genetic Counseling Engagement Task Force (2016) and the National Society of Genetic Counselors Conflict of Interest Task Force (2017-2018). She currently serves on the Mt. Sinai Medical Center Genetic Counseling Program Advisory Board, UCLA Genetic Counseling Program Advisory Board and was a member at large of the National Society of Genetic Counselors board of directors (2019-2020). Michelle was awarded the Natalie Weissberger Paul Lifetime Achievement Award 2022 recognizing her contributions to the field of genetic counseling! Debra Collins, M.S., CGC, has been a genetic counselor at University of Kansas Medical Center for four decades. She has been working there as a genetic counselor for about four decades and her current roles include being a hereditary cancer genetic counselor, with special expertise in von Hippel-Lindau syndrome, and advisor to the genetics and neoplasia medical school curricula.. She has been an active member of the NSGC, including being a past President, serving on the Board of Directors, the Professional Status Committee and currently in the Cancer Genetics Special Interest Group. In 2006, she was awarded the Jane Engelberg Memorial Fellowship Special Award for an online course on grant writing for genetic counselors. Collins also had leadership roles in organizations such as the American Society of Human Genetics, The American Board of Genetic Counseling, and many family support / advocacy groups. Debra graduated from Sarah Lawrence College, the first genetic counseling program, with her Master’s Degree in Human Genetics. She has enjoyed working as a genetic counselor every day: providing education, advocating, counseling, translating complex information, and making a difference in the lives of patients and families. On This Episode We Discuss: Why it’s important to understand the history of the genetic counseling field Why the year 1969 is an important one for the profession The first annual education (NSGC) conference The role of the March of Dimes The number of people who attended the first conference The next few annual education conferences What has changed since then NSGC conferences today If you want to learn more about the history of the GC field, check out Episode 136 with Linda Robinson . Episode 31 with Robin Schwartz also gives a great overview of the field. Stay tuned for part 2 of this series with Ed Kloza and Ann Walker where we will focus on the Formation of the American Board of Genetic Counseling (ABGC). You can learn more about the past, pre

We are officially launching our Patreon next week on DNA Day, April 25th! To celebrate the 70th anniversary of the discovery of the structure of DNA and 20th anniversary of the completion of the human genome. By becoming a Patreon supporter you can receive benefits like joining our exclusive genetics book/movie club, mentorship sessions with me, even being on an episode of DNA Today! If you sign up as a Patreon supporter in the next month (by May 25th) we will throw in an extra physical gift, a piece of DNA Today merch. We launch on DNA Day (April 25th) so you can celebrate our genetics holiday by becoming one of our first patrons then! As a prenatal genetic counselor, our host, Kira Dineen, is very intrigued to learn all about the new advances in non-invasive prenatal screening or NIPS. To see what’s new in at-home NIPS we are joined by experts from Juno Diagnostics (JunoDx), Katie Sagaser and Allison Rodgers! Katie Sagaser is the Director of Genetic Counseling at Juno Diagnostics. Katie’s team provides telehealth, prenatal genetic counseling services for patients undergoing Juno’s Hazel™ Non-Invasive Prenatal Screen – the first at-home, capillary-based NIPS for fetal aneuploidy. Prior to joining JunoDx, Katie was an assistant professor of Gynecology & Obstetrics in the Division of Maternal Fetal Medicine at the Johns Hopkins University School of Medicine. Katie’s professional interests center on equitable access to genetic testing and access to comprehensive reproductive health care throughout the lifespan. Most recently, she was the lead author on NSGC’s Practice Guidelines for Expanded (Equitable) Carrier Screening. A member of both the Society for Maternal Fetal Medicine Reproductive Health Advisory Group and NSGC's Public Policy Committee, Katie is also actively engaged in public policy work surrounding reproductive health and genetics. At Juno, Katie is passionate about using social and digital media to scale access to high-quality information on genetics and reproductive medicine. Dr. Allison Rodgers is a double board-certified OB-GYN and fertility doctor. She is currently the Director of Education at Fertility Centers of Illinois, a US Fertility Practice; additionally, she serves on the Clinical Advisory Board for Juno Diagnostics. Dr. Rodgers' personal experiences with secondary infertility and pregnancy loss inform her unique insights into reproductive medicine, contributing to compassionate and individualized patient care. She is published in top medical journals covering endometriosis, tubal factor infertility, in vitro fertilization, and donor sperm. Her special interests include in-vitro fertilization, endometriosis, polycystic ovarian syndrome, unexplained infertility, recurrent pregnancy loss, premature ovarian insufficiency, LGTBQIA+ fertility, reciprocal IVF, and transgender fertility. She completed her residency at Case Western Reserve-Metrohealth Medical Center Cleveland Clinic, followed by a fellowship at the University of Texas Health Science Center in San Antonio. You may recognize Dr. Rodgers from Tik Tok and Instagram where she shares fertility education with more than 1.3 million followers! On This Episode We Discuss: The inspiration behind JunoDx and their goal/mission What drew Katie and Allison to JunoDx How JunoDx’s technology/approach differs from other companies to successfully perform NIPS on a much smaller sample volume How does Juno’s at-home approach to sample collection for NIPS increases accessibility, particularly those in underserved or remote areas The difference between JunoDx’s 2 NIPS, Hazel and Birch Determining sex of the baby with Birch NIPS Conditions included in the more comprehensive Hazel screening The process of ordering Hazel or Birch NIPS, collecting the sample, to learning the results The positive predictive value and negative predictive values of the tests, what these values mean, and how they compare to other NIPS and other at-home NIPS The evolution and future of at-home NIPS tests, particularly related to advancements in technology and genetic testing To learn more about Juno Dx, visit their website and Youtube and Pinterest pages. You can also follow Juno Dx on Twitter, Facebook, Instagram and TikTok. And be sure to follow Dr. Rodgers on Tik Tok and Instagram, and Katie Sagaser on Twitter and Instagram! Further Reading: Capillary blood collection: exploring a new method to promote noninvasive prenatal screening access "An exploration of methods to enable equitable access to non-invasive prenatal screening" "Optimizing blood collection, transport and storage conditions for cell free DNA increases access to prenatal testing" "Noninvasive prenatal detection of sex chromosomal aneuploidies by sequencing circulating cell-free DNA from maternal plasma" "Women In Wellness: Katie Sagaser of JunoDx On The Five Lifestyle Tweaks That Will Help Support People’s Journey Towards Better Wellbeing" Stay tuned for the next new episode of DNA Today on April 28th, 20

We are thrilled to be launching our Patreon very soon. It might be on a genetics holiday, I’ll let you figure that one out. In the meantime we would appreciate your insight on what you want from the Patreon. It’s your last chance to fill out our survey so that we will offer the benefits you want. You can access the 60 second survey here. Maybe you really want DNA Today merch or would love to have one on one mentorship with me. Maybe you have your own idea! Whatever your thoughts are, get them in by April 21st, 2023! Thanks for helping to develop our Patreon. On this episode, genetic counselor and entrepreneur, Matt Tschirgi, shares insights he has learned from running his own company and a survey he sent out to fellow entrepreneurs in the field. My guest today is a fellow genetic counselor entrepreneur, Matt Tschirgi! Matt (he/him) performs contract work through his company, Genetix Consulting, LLC, in addition to being employed at a commercial lab. He has more than 15 years of combined experience in clinical and industry genetic counseling. Matt’s professional interests include prenatal genetics; academic and industry partnerships; and professional issues such as continuing education, multi-state licensure, and incorporating genetic counseling assistants in both clinical and industry settings. He earned his BS degree from Washington State University, and his MS in genetic counseling from University of Texas Health Science Center at Houston. Last year, Matt put a call out on Twitter and LinkedIn to fellow genetic counselors who are entrepreneurs to share their experiences for a student lecture he was putting together. This call generated a lot of interest and tons of responses, many of which we’ll be discussing in this episode! On this episode we discuss: The origin of LLC Genetix Consulting and the services they offer Genetic counseling skills that are transferable to being an entrepreneur Charging as an entrepreneur in genetics (fee ranges and payment models) Types of services that people provide (i.e., medical writing and editing, project management, variant curation, career/life/personality coaching, and more!) Challenges that people have faced What people love most about their businesses Advice on getting your business started! If you’re interested in learning more about entrepreneurship and consulting in genetic counseling, we highly encourage you to follow Matt on Twitter, and check out these slides. Stay tuned for the next new episode of DNA Today on April 21st, 2023 where we’ll be discussing at-home non-invasive prenatal screening with JunoDx! New episodes are released every Friday. In the meantime, you can binge over 230 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Want to become a genetic counselor? Looking for ways to engage with the field and boost your resume for grad school applications? Then you should check out Sarah Lawrence’s “Why Genetic Counseling Wednesday Summer Series”! Every Wednesday this June (plus the last Wednesday in May) Sarah Lawrence is hosting a series where you can interact through Zoom with genetic counselors from different specialties. It kicks off on May 31st! You can sign up at SLC.edu/DNAtoday. Again visit SLC.edu/DNAtoday to register to level up your resume for applications in the fall. (Sponsored) As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored) As many of you know through podcasting I have become an entrepreneur including consulting for other podcasts. Since I don't have a business degree I have learned a lot through podcasts like Porch Talks. The inspiration to start this show was from the host Melissa Bradley who wanted to inform, instruct, and inspire fellow entrepreneurs, especially in people who identify as women, people of color, immigrants, veterans, people with disabilities, and folks in the LGBTQIA+ community (which drew me in initially). So if you are thinking about starting a business or just love hearing stories about how businesses gr

Have you heard? We are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have an exciting list of ideas on what we will offer you listeners, but we want you to make the final decisions on which benefits we end up offering you. So get your votes in through our survey. It only takes 60 seconds to fill out. Thank you SO much!! In this episode, we explore the intersection of artificial intelligence (AI) and genetics, focusing on the potential impact of AI policies and regulations on the field. Why do our show notes look different this week? We decided to stay on brand for this episode and use AI (shoutout Podium) to write this content. We discuss the rise of AI chatbots like ChatGPT and BioGPT and their potential to transform healthcare and the genomics industry by assisting humans in interpreting vast amounts of genetic data. We delve into the importance of using AI-powered tools like ChatGPT to enhance our understanding of genomic data while maintaining privacy, and we discuss The Family Vault, which helps parents maintain ownership and control of their babies' genomic data. We also explore the challenges of implementing AI solutions in the clinical genomics industry, focusing on the importance of data provenance, quality, and privacy. Join us as we examine the future of data management in a hybrid world of centralized and decentralized databases, and learn about the exciting developments in the world of genetics. Daniel Uribe is the father of a rare disease child. He is an expert in cybersecurity, data laws, non-fungible tokens (NFTs) and genomics. Daniel is the inventor of BioNFTs to tokenize revocable digital rights over human biosamples and derived biodata based on data privacy laws to enable ethical AI training in genomics and healthcare. Top 10 Keypoints: AI chatbots like ChatGPT and BioGPT are transforming healthcare and genomics by assisting humans in interpreting vast amounts of genetic data. AI policies and regulations, such as the AI Bill of Rights, are being proposed to ensure responsible and ethical AI systems in healthcare and genomics. Data used to train AI must be accurate, properly presented, and free from bias to avoid producing misleading or harmful results. AI-powered tools like ChatGPT can help individuals explore their genomic data while maintaining privacy and control over their genetic information. The Family Vault enables parents to maintain ownership and control of their babies' genomic data while collaborating with researchers in federal programs. Data provenance, quality, and privacy are essential when implementing AI solutions in the clinical genomics industry. A hybrid world of centralized and decentralized databases is emerging for data management in genomics, with a focus on digital hygiene and controlled access to sensitive genetic information. Creating sub-datasets and limiting access to relevant data for specific purposes can help maintain control over genetic data while contributing to research and receiving personalized medical care. Trustable, certified genetic testing is crucial as AI continues to play a larger role in healthcare and genomics. The future of genetics will involve exciting developments in the understanding and interpretation of DNA data, with AI technologies playing a significant role in augmenting human knowledge and capabilities. Episode Chapters: AI in Genetics and Healthcare The Best of Both Worlds Centralization vs Decentralization in Digital Data Exploring the Wonders of DNA Chapter Summaries: (0:00:02) - AI in Genetics and Healthcare (16 Minutes) In this episode, we explore the role of artificial intelligence (AI) in genetics and the potential impact of AI policies and regulations on the field. Our guest, Daniel Uribe, is an expert in cybersecurity, data laws, NFTs, and genomics. He discusses the rise of AI chatbots like ChatGPT and BioGTP and their potential impact on healthcare and the genomics industry. AI has the potential to assist humans in interpreting large amounts of genetic data and augment human knowledge. However, the data used to train AI must be accurate, properly presented, and free from bias. (0:15:47) - The Best of Both Worlds (10 Minutes) In this portion of the conversation, we delve into the potential of AI-powered tools such as Chat GPT to enhance the understanding of our genomic data while maintaining privacy, enabling individuals to make informed decisions about their health. The Family Vault is discussed as a means to help parents maintain ownership and control of their babies' genomic data, while still collaborating with researchers in federal programs. The conversation also touches on the importance of decentralized data storage and privacy-preserving technologies for protecting sensitive genetic information from hackers and unauthorized access' (0:26:03) - Centralization vs Decentral

As you may have heard, we are launching a Patreon! For those that don’t know what Patreon is, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. We have a survey that will be open for a limited time so get your input in now so we can provide the benefits you want. Maybe that’s a one-on-one Zoom with me for mentorship or a genetics book/movie club or an appearance on the podcast! Let us know so we can make sure to offer it. Thanks for all your support for the podcast over the years. My guest today is Dr. Jamie Fettig, the Founder and CEO of TruGene Diagnostics. We are chatting about a breakthrough in eliminating variants of unknown significance - especially in relation to companion diagnostic tests and pharmacogenetics in oncology. Dr. Jamie Fettig is the Founder and CEO of TruGene Diagnostics, which is eliminating variants of unknown significance - especially in relation to companion diagnostic tests and pharmacogenetics in oncology. He graduated from Palmer University. Dr. Fettig previously worked in private practice and then transitioned into manufacturing and selling medical equipment. He also worked as a coach and trainer to fellow doctors. On This Episode We Discuss: Defining variants of unknown significance (VUS), pharmacogenetics and companion diagnostics What TruGene Diagnostics does The GiggaAssay How knowing if a breast cancer is HER2+ can help inform medications that people should be prescribed VUS in HER2 Tyrosine Kinase Region What people should do if they get HER2+ cancer or their doctor wants to do a biopsy thinking it might be HER2+ How cancer survival rates are impacted by utilizing precision medicine approaches with drugs How TruGene Diagnostics’ test differs from other PGx tests or Precision Meds How pharmacogenomics can increase the efficacy of clinical trials Check out Dr. Fettig’s papers: Heligenics: fulfilling the promise of the functional genome to enable precision medicine (March, 2023) Data Supporting a saturation mutagenesis assay for Tat-driven transcription with the GigaAssay (September 2022) GigaAssay – a high-throughput assay system for molecular functions and cell processes (July 2021) Check out DNA Today Episode 134 that Kira mentioned during this episode; it’s with guest Dr. Kat Arney about cancer evolution. You can also stream other episodes about pharmacogenomics including Episode #108 with Becky Winslow, Episode #174 with Gregory Kellog, and last week’s Episode #229 with Avni Santani! Stay tuned for the next new episode of DNA Today on April 7th, 2023, where we’ll be discussing ChatGPT and AI In Genetics with Daniel Uribe of GenoBank! New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored) Juno Diagnostics has developed the next generation of non-invasive prenatal tests so that all pregnant people can access a higher standard of care. Juno Diagnostics is the only genetic testing company on the market that performs NIPS for common aneuploidies on blood samples from a finger stick instead of a traditional venous blood draw. That means you collect your sample on your own time, at home, and still have NIPS at a CLIA laboratory! Juno’s Hazel™ NIPS screens for common chromosome variations seen in pregnancy, such as Down syndrome or trisomy 21, trisomy 13, and trisomy 18 – in addition to testing for fetal sex. You can order this test yourself, or have your healthcare provider order for you. Head to JunoDx.com and use the code "DNATODAY” for 10% off! Keep your eye out for our full episode interview with experts from Juno Dx including fellow genetic counselor Katie Sagaser and Dr. Allison Rodgers. In the meantime, check out JunoDx.com to learn more about Hazel and their other test Birch (which tests just for the sex of your baby). (Sponsored)

We have an exciting announcement, we are launching a Patreon! For those that are not familiar with Patreon, it’s a platform that allows creators (like podcasters) to offer their followers more content, experiences, and even gifts. In order to provide what YOU want, please take 60 seconds to fill out our survey. By filling out the survey not only are you influencing what benefits we will offer, but you will be the first to know when we will launch! Can’t thank you all enough for your listenership over the years, it’s such a privilege to be able to launch a Patreon to engage with you all more. This week we’re chatting about an emerging area of genetics, pharmacogenomics! Pharmacogenomics (PGx), one of the core elements of personalized medicine, is a field of research that studies how a person’s genes affect how they respond to medications. Its long-term goal is to help doctors select the drugs and doses best suited for each person. Joining us for this conversation is Avni Santani PhD, FACMG, Chief Medical Officer of Veritas Genetics, a LetsGetChecked company, which delivers tailored at-home healthcare solutions to 300+ organizations. Dr. Santani holds a Master’s degree in Medical Molecular Genetics from the University of Aberdeen and a PhD in Genetics from Texas A&M University. She holds specialty board certifications in Clinical Molecular Genetics and Clinical Cytogenetics from The Children’s Hospital of Philadelphia (CHOP). On This Episode We Discuss: Pharmacogenomics and other similar terms The state of genetic testing today and how it has changed in the last ten years Why it is helpful to have pharmacogenomic testing information when figuring out the best drugs to prescribe Steps of drug metabolism that gene variants can affect How gene variants can impact the drug response (drug reception, uptake, and breakdown) If testing can provide information on the dosage of drugs to prescribe and how this varies between people Types of conditions/diseases where genetic testing results can be applied (behavioral health, cardiovascular health, and pain management) The role of testing in determining personal risk levels of becoming addicted to pain medications Genes that LetsGetChecked’s myPGx test analyzes The frequency at which gene variants found through this testing help narrow down which drug or dose to prescribe If you want to learn more about pharmacogenomics, head over to the LetsGetChecked website. Be sure to follow our guest, Avni Santani, on Twitter; LetsGetChecked on Twitter, Facebook, LinkedIn, Instagram, YouTube; and VeritasGenetics on Twitter, Facebook, and Instagram. Stay tuned for the next new episode of DNA Today on March 31st, 2023, where we’ll be diving deeper into pharmacogenomics (PGx) with James Fettig who will provide an overview of PGx for cancer! New episodes are released every Fridays. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored) As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored) Juno Diagnostics has developed the next generation of non-invasive prenatal tests so that all pregnant people can access a higher standard of care. Juno Diagnostics is the only genetic testing company on the market that performs NIPS for common aneuploidies on blood samples from a finger stick instead of a traditional venous blood draw. That means you collect your sample on your own time, at home, and still have NIPS at a CLIA laboratory! Juno’s Hazel™ NIPS screens for common chromosome variations seen in pregnancy, such as Down

Update: One of our recurrent guests genetic counselor and fellow podcaster Laura Hercher had a couple important thoughts after listening to our episode we want to share. Laura has been a guest on Episodes 157 & 191 where she has shared her insight on abortion bans including Texas SB 8 and the overturn of Roe v. Wade. “I understand the reasons for moving our language away from terms like ‘lethal’ or ‘incompatible with life’, but we are also now faced with multiple states where only a lethal anomaly or condition is considered grounds for a legal abortion (insurance coverage for the abortion may hinge on this as well). And in fact, the language is so strict and the consequences so concerning that many institutions are basically turning down virtually all exceptions. It's a giant mess. So, not saying that it isn't important to tell the truth -- of course! But that term ‘lethality’ may need to remain in the conversation even when survival isn't out of the question.” Thanks Laura for writing in and adding to our conversation and considerations with the complexities surrounding reproduction. Our guest today is Divya Ramachandra, who is a genetic counselor and program coordinator in Chicago, practicing primarily in prenatal, pediatric, and inpatient genetics. In this episode, she provides us with a comprehensive overview of trisomy 13 (T13) and trisomy 18 (T18) and genetic counseling for these patient populations. Divya presented at the National Society of Genetic Counselors’ Annual Conference this past fall titled “From Lethal to Life-Limiting: Paradigm Shift in Caring for Patients with Trisomy 13 or 18” which we covered in our NSGC 2022 recap episode (#212). She published her thesis in the Journal of Genetic Counseling on transitional challenges novice genetic counselors face after graduation. She has a strong interest in bioethics and serves on the Pediatrics Ethics Committee as well as the Genetics Ethics Service Line at her institution. On This Episode We Discuss: Symptoms of T13/T18 Signs on ultrasound that a pregnancy may have T13/T18 Advice for healthcare providers and GCs on how to approach conversations with people who have a pregnancy with a high chance of T13/18 Decision making parents should review with a healthcare provider (delivery plans, feeding options, etc.) Moral distress and how to process this with patients Why we should we shift our conversations from lethal to life-limiting The term “quality of life” How the health and survival of people with T13/18 has changed over the years Most common causes of death for babies with T13/18 Interventions that can alter a baby’s survival Postnatal care conferences and other resources The chance to have another pregnancy with T13/18 Stay tuned for the next new episode of DNA Today on March 24th, 2023, where we’ll be discussing pharmacogenomics with Dr. Avni Santani! New episodes are released every Fridays. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored) As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. Listen to DNA Today Episode #224 Single Gene NIPT and #225 Fetal Antigen NIPT. (Sponsored)

In this episode, we are exploring limb-girdle muscular dystrophy (LGMD). Joining us for this conversation are two experts, Dr. Louise Rodino-Klapac, and genetic counselor Livija Medne. Dr. Louise Rodino-Klapac is the Executive Vice President, Head of R&D and Chief Scientific Officer at Sarepta Therapeutics who has 15 years of experience researching and studying LGMD. She is renowned for her work in molecular genetics and gene therapy. Her pioneering research is the foundation for five of our investigational limb-girdle muscular dystrophy (LGMD) programs. Hear from Dr. Rodino-Klapac about LGMD, the importance of knowing your subtype and the basics of gene therapy! Livija Medne is a Senior Genetic Counselor and Systems Director of Genetic Counseling at the Children's Hospital of Philadelphia. She has 15+ years of experience in pediatric neuromuscular diagnoses, including LGMD. She co-chairs and is one of the course directors of the Curriculum Committee at the University of Pennsylvania Genetic Counseling Program. In addition, Livija is an advocate for the professional development of junior genetic counselors, having co-founded the first Genetic Counselor Mentorship committee at CHOP. On This Episode We Discuss: Limb-girdle muscular dystrophy (LGMD) Which muscles are typically are affected first Symptoms that individuals with LGMD experience and when symptoms usually start The prevalence of LGMD compared to Duchenne Muscular Dystrophy How people are diagnosed with LGMD Why genetic testing is important to determine specific subtypes of LGMD Gene therapy programs for the most common subtypes The goal of the gene therapy When FDA-approval for LGMD gene therapy can be expected How patients can gain access to the gene therapy program and how health care providers can refer patients Busting myths about LGMD If you’d like to take a deeper dive after listening to today’s episode, follow these links to learn more about limb girdle muscular dystrophy, gene therapy, and genetic testing for LGMD. You can also visit raregenomes.org and limbgirdle.com to learn more! And be sure to follow Dr. Louise Rodino-Klapac on Twitter! You can also check out this installment of the PhenoTips Speaker Series to hear Kira interview Livija Medne about genetic counselors in leadership positions. Stay tuned for the next new episode of DNA Today on March 10th, 2023! New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Which muscular dystrophy causes weakness of the muscles typically starting around the hips and shoulders? That would be limb girdle muscular dystrophy, or LGMD. LGMD is a group of neuromuscular diseases caused by mutations in genes responsible for proteins critical for muscle function, regulation, and repair1-3. Sarepta is a global biotechnology company working on engineering precision genetic medicine with the goal of changing the lives of people living with rare muscular dystrophies. Their multi-platform Precision Genetic Medicine Engine includes gene therapy, RNA and gene editing approaches. Oh that reminds me, ACMG is in March and Sarepta will be at booth 504. You can also head over to limbgirdle.com to learn more. (Sponsored) 1. Murphy AP and Straub V. J Neuromusc Dis. 2015;2(suppl. 2):S7-S19. 2. Liewluck T and Milone M. Muscle Nerve. 2018;58(2):167-77. 3. McNally EM. The Sarcoglycans. In: Landes Bioscience. 2000–2013. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode (#226) with PerkinElmer Genomics. You can visit perkinelmergenomics.com for more information. (Sponsored) Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored) I’ve enjoyed recording

Can rapid whole genome sequencing (WGS) be utilized in the NICU setting? We explore in this podcast episode! Joining us for this episode is Dr. Hong Li, a clinical geneticist at Emory University. Our other expert is a recurring guest, world-renowned geneticist Dr. Madhuri Hegde. She serves as the Senior Vice President and Chief Scientific Officer of Global Lab Services at PerkinElmer Genomics, a global leader in genetic and genomic testing focused on rare diseases, inherited disorders, newborn screening, and hereditary cancer. If you want to hear her on other episodes of DNA Today tune into Episode 177 where we nerded out about the power of whole genome sequencing (which is a great precursor to this conversation) and Episode 202 about Duchenne Muscular Dystrophy. In addition to her role at PerkinElmer, Dr. Hegde is also a board certified diplomate in clinical molecular genetics by the American Board of Medical Genetics, and an ACMG Fellow. Previously, she was the Executive Director of Emory Genetics Laboratory. She received a B.Sc. and M.Sc. from the University of Bombay and a Ph.D. from the University of Auckland. She completed postdoctoral studies at Baylor College of Medicine. Dr. Hong Li is a clinical and biochemical geneticist at Emory University School of Medicine who is passionate about diagnosing and treating children and families with genetic and metabolic diseases. She also oversees the Emory Metabolic Clinic, serves as Co-Chair of the Georgia Newborn Screening Advisory Committee (NBSAC), where she is extensively involved in Georgia’s NBS development, implementation, and clinical follow-up for children with metabolic disorders, is the Vice-Chief of the genetics section at Children’s Healthcare of Atlanta and geneticist of the multidisciplinary differences of sex development (DSD) clinic at CHOA and the site PI of the DSD translational research network (DSD-TRN). She also serves as the medical director of the Emory CTCF-related disorder (CRD) center. Dr. Li also holds multiple educational roles, including sponsoring the first Emory Genetics Interest Group at Emory College and School of Medicine to foster interest and attract intelligent students to join the growing field of medical genetics! Her research interests are primarily devoted to exciting clinical trials for genetic/metabolic diseases, and she is the principal investigator for multiple Phase I/II and III clinical trials. She is also interested in new gene discovery and better defining the phenotype of rare genetic diseases. On This Episode We Discuss: Symptoms that would warrant immediate genetic testing after birth Starting with whole genome sequencing (WGS) versus exome Other tests that are useful for babies in the NICU beyond the genome How laboratories are maximizing the genome data for babies in a medical crisis Samples used for urWGS (ultra rapid WGS) and newborn screening Trio testing with parents to rule out variants of being causative of symptoms urWGS minimizing healthcare costs Why timing is so important for babies in the NICU How results from urWGS can influence treatment plans How projects like Project Baby Bear and Project Baby Deer are paving the way for whole exome sequencing as part of newborn screening Here is an interesting article from PerkinElmer about expanding into ultrarapid whole genome sequencing. During the interview Kira mentioned two episodes about the Telomere to Telomere Consortium which officially finished the complete human genome sequence in 2022. Dr. Eric Green shares his expertise in Episode 183 followed by Dr. Miga and Dr. Phillippy in Episode 184. Stay tuned for the next new episode of DNA Today on Friday, March 17th when muscular dystrophy experts Dr. Louise Rodino-Klapac (from Sarepta) and Livija Medne (Children's Hospital of Philadelphia aka CHOP) share their expertise specifically about limb-girdle muscular dystrophy. New episodes are released every Friday. In the meantime, you can binge over 225 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. You can visit perkinelmergenomics.com for more information. (Sponsored) If you’ve been listening to DN

Last episode we learned about non-invasive prenatal testing (NIPT) for recessive conditions through BillionToOne’s UNITY Screen. Jen Hoskovec, Senior Director of Medical Affairs at BillionToOne, is back for this episode where we are exploring NIPT for fetal antigen. Jen is BillionToOne’s Senior Director of Medical Affairs. Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University. On This Episode We Discuss: Antigens Which antigens are screened for in UNITY Alloimmunization and who is at risk Why learning fetal antigens is useful during a pregnancy Prevalence of and risks associated with HDFN Hemolytic Disease of the Fetus and Newborn Sensitivity and specificity of UNITY Screen’s NIPT for fetal antigen The minimum gestational week blood for this test can be collected How providers can order both the UNITY for recessive conditions and fetal antigen The average turnaround time for these tests Learn more about UNITY Screen’s novel fetal antigen NIPT and the genetic conditions and fetal antigens on UNITY Screen NIPT at these links. To stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on March 3rd, 2023! New episodes are released every Friday. In the meantime, you can binge over 224 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored) Surely you have heard of whole genome sequencing, but what about rapid and ultra-rapid whole genome sequencing? This is an emerging method of diagnosing genetic conditions for quick management. PerkinElmer Genomics offers this incredibly valuable test, which can be life saving for ill babies and kids. Learn more in our full episode with PerkinElmer Genomics on here, DNA Today! You can visit perkinelmergenomics.com for more information, the link is also available in the show notes and on our website DNAtoday.com. (Sponsored) Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

In this episode we are learning about UNITY Screen non-invasive prenatal testing (NIPT) for recessive conditions. Joining our host Kira Dineen are two experts from BillionToOne, the CEO Oguzhan Atay and the Senior Director of Medical Affairs, Jen Hoskovec. Stay tuned for our part two about their new fetal antigen NIPT! Oguzhan Atay, PhD, BillionToOne co-founder, has led the company since its inception and raised more than $200M in funding including from venture capital funds and investors who previously invested in tech companies such as SpaceX, Box, Spotify, Palantir, Braintree, and biotech companies such as Counsyl, WebMD, and Omada Health! Oguzhan received his PhD from Stanford University, where his work was published on the Cover of Cell Systems. He graduated summa cum laude and Phi Beta Kappa from Princeton University with a bachelor’s in molecular biology and minors in physics, computer science, and applied mathematics. Jennifer Hoskovec, MS, CGC, joined BillionToOne as the Senior Director of Medical Affairs in July 2020. As a certified genetic counselor with over 17 years of clinical experience, Jen is committed to ensuring patients and providers are supported and educated about the options and utility of prenatal testing. Jen joined BillionToOne after 17 years as a prenatal genetic counselor at UTHealth where she led a team of genetic counselors providing patient care in MFM clinics across the city of Houston. Jen has extensive volunteer and leadership experience within national societies such as American College of Obstetrics and Gynecology and National Society of Genetic Counselors. She served as president of NSGC in 2014. Jen earned her MS in genetic counseling from the University of Texas Health Science Center in Houston and her Bachelor of Science in Biology with a minor in Chemistry from Truman State University. On this episode we discuss: Noninvasive prenatal testing (NIPT) What is UNITY Screen and why the name UNITY? Recessive conditions included in UNITY Screen Information included in a UNITY NIPT report Test specificity and sensitivity differences between ethnicities How typical carrier screening flows work differently with UNITY Why it is helpful to have information regarding the chance a pregnancy is affected by a recessive condition BillionToOne’s plans to include more recessive conditions in UNITY Screen To stay up to date with the latest developments at BillionToOne, follow them on Twitter, facebook and LinkedIn. You can also connect with our guest, Jen Hoskovec on Twitter. Stay tuned for the next new episode of DNA Today on February 24th, 2023 where we continue this NIPT discussion with Jen Hoskovec focusing on screening for antigens. New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored) Which drug do you prescribe for your HER2+ cancer patients? For the first time in history TruGene Diagnostics (formerly Blueprint Diagnostics) informs you which of the 3 leading cancer drugs your patient is sensitive to and resistant to. TruGene Diagnostics knows the functional effect of EVERY mutation in the TK region of HER2 Gene. And knows the functional effect with and without the 3 most common drugs present. Thus allowing you to match the best drug to the patient. Unlock the best drug for your patients with HER2+ cancer using TruGene Diagnostics. Check it out at TruGeneDiagnostics.com. Stay tuned for our interview with them! (Sponsored)

Happy Rare Disease Month! With over 10,000 rare diseases, reaching a diagnosis is a long and arduous process for the 300 million people affected by a rare disease worldwide. Advancements in technology, bioinformatics, and improved collaboration hold the promise to end or reduce this diagnostic odyssey; however, valuable diagnostic data still remains siloed and fragmented within healthcare systems. To illuminate the ways in which interoperability can be harnessed to drive diagnosis, DNA Today host Kira Dineen and PhenoTips’ Dr. Orion Buske and Charles Keenan share their insights. DNA Today’s host Kira Dineen is also one of the hosts of the PhenoTips Speaker Series. This monthly live webinar focuses on relevant genetics topics by featuring discussions with thought leaders and experts in genomic medicine. This episode is the 21st installment of the PhenoTips’ Speaker Series, “Building Integrated Workflows for Rare Disease Diagnosis”. Check out upcoming installments by heading over to PhenoTips.com where you can also stream all the webinars from the last two years. Dr. Orion Buske holds a PhD in Computer Science from the University of Toronto, where he specialized in algorithms for genome analysis and rare disease patient matchmaking, leading the technical working group of the Matchmaker Exchange as well as the redevelopment of RareConnect.org. Throughout his career he has also led the technical developments of both PhenomeCentral and PatientKind. In addition to his work building interoperable workflows for genomic medicine as Chief Executive Officer of PhenoTips, Dr. Buske remains an active member of the Global Alliance for Genomics and Health (GA4GH) where he co-leads the Pedigree Standards stream of the Clinical & Phenotypic Data Capture working group. PhenoTips’ Interoperability Specialist Charles Keenan is dedicated to building health technology products that easily share information among systems and providers, helping clinicians realize unprecedented health outcomes in our digital world. While working in genomics and ophthalmology, Charles was inspired to pursue a Master's in Health Informatics from the University of Toronto after experiencing first-hand the frustrations caused by healthcare technology for both patients and providers. Charles holds a BSc in Life Sciences and hopes to realize the future of genomics through leveraging new technology that builds communication between systems. In this panel discussion, Kira Dineen, Dr. Orion Buske, and Charles Keenan address: How PhenoTips is helping rare disease networks with the adoption of interoperability standards to integrate workflows The role of interoperable data in improving diagnostic outcomes The application of structured pedigree and phenotypic data in diagnosis Recent rare disease projects across the US, UK, and Canada The PhenoTips Speaker Series is also available now as a podcast, so search “PhenoTips Speaker Series” wherever you are listening to this podcast (Apple, Spotify) to subscribe and stay updated on new episodes. Stay tuned for the next new episode of DNA Today on February 17th! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored) If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health b

We are kicking off Rare Disease Month by talking about Wilson’s disease, a rare, inherited disorder that causes copper to accumulate in the liver, brain, and other vital organs. It is inherited in an autosomal recessive pattern and left untreated, Wilson’s disease can be fatal. Joining us for this episode is Naseem Amin, the CEO of Orphalan, which develops and commercializes treatments for orphan/rare diseases. In this episode we are exploring Wilson’s disease and the FDA-approved treatment, Cuvrior. Naseem Amin (he/him) joined Orphalan in 2017 bringing thirty years of international industry experience in Research and Development, Corporate and Business Development, Venture Capital and Marketing. Naseem previously served as Executive Chairman at Arix Bioscience Plc, listed on the LSE, Venture Partner at Advent Life Sciences, Chief Scientific Officer at Smith and Nephew, where he oversaw corporate R&D, divisional manufacturing, QA/QC and product development functions. Prior to Smith and Nephew, Naseem led the business development functions at both Biogen and Genzyme Therapeutics. For both companies, he initiated and executed a number of transformative acquisitions and transactions. Naseem has also led the clinical development of five currently marketed therapeutic products. He started his career at Baxter Healthcare where he had executive roles in marketing, product development and clinical research. In addition to his role at Orphalan, Naseem currently serves as a board member and advisor to several not for profit organizations, and a publicly listed biotechnology company listed on the NASDAQ. Naseem is a qualified medical doctor, from the University College Medical School, London and has an MBA from Kellogg Graduate School of Management at Northwestern University. On This Episode We Discuss: Differences in metabolism in individuals with Wilson’s disease (WD) How an accumulation of copper affects the body and body systems that are most affected How and when WD is diagnosed Signs that someone may have WD Pathogenic variants (mutations) that have been identified in the ATP7B gene The number of people affected by WD Current/standard treatment recommendations for people with WD and how Cuvrior differs from these treatments When Cuvrior, now FDA-approved, is officially launching in the US When it is appropriate for people with WD to start taking Cuvrior Long-term studies and documented benefits of starting the medication earlier in life To learn more about Wilson’s disease and find patient information, visit Orphalan's wesbite. You can also learn more about Cuprior (the name of Cuvrior in Europe with EMA approval) here. Stay tuned for the next new episode of DNA Today on February 10th! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored) If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

In this episode we are chatting about the genetic counseling field in South Africa! Joining us for this discussion are two guests from the University of Cape Town (UTC), current student, Samantha Bayley, and UCT-professor, Tina-Marié Wessels. Special thanks to our social media intern, Kajal Patel, for recommending Samantha and Tina for this episode! Samantha Bayley is currently a second-year student in the MMedSc Genetic Counselling Program at the University of Cape Town. Originally from Johannesburg she moved to the Western Cape for her tertiary education. Samantha completed a BSc in Human Life Sciences with Psychology (2016-2018), BSc Honours in Human Genetics (2019) and MSc in Human Genetics (2020-2021), all at Stellenbosch University. Her honours and masters research focused on a rare condition called Mabry Syndrome, including identifying a novel deleterious variant in the gene PGAP3 and determining this variant to be a likely founder effect in the Xhosa population for Mabry Syndrome. This year Samantha will do a minor dissertation on 'Investigating the Opinions on Telephonic Advanced Maternal Age Genetic Counselling'. She created the @samthegc Instagram page to share her experience as a Genetic Counselling Student and raise awareness for the profession in Africa. Dr. Tina-Marié Wessels is an associate professor in the genetic counseling program at the University of Cape Town, where she has worked since 2014! Prior to teaching at UTC, Tina worked as a genetic counselor at the National Health Laboratory Service and the University of the Witwatersrand, where she received her MSc(Med) and PhD in genetic counseling.She conducted her PhD in association with the Health Communications Project and examined the communication aspects of the genetic counselling process in an antenatal multicultural context. Tina joined the Division of Human Genetics at UCT IN 2014 as senior lecturer in Genetic Counselling. Together with Prof Jacquie Greenberg, she runs the Masters programme in Genetic Counselling where she is involved in undergrad and postgraduate teaching. In addition to her academic role, she is involved in clinical service and counsels patients from Groote Schuur and Red Cross Children’s Hospital. On This Episode We Discuss: Genetic counseling in South Africa Factors that limit expansion of the genetic counseling field in South Africa How we can raise awareness in South African healthcare for genetic counselors and their services so that there is an increased amount of referrals Paying for genetic counseling consults in South Africa Relationships with patient advocacy organizations Genetic counseling degree programs in South Africa and how to apply Sam’s experience as a genetic counseling student (which she shares on her Instagram!) Job requirements of being a genetic counselor in South Africa Availability of genetic counseling positions and paid internships The process to order genetic testing in South Africa Public sector versus private sector How they envision the field changing in the next five years To learn more about genetic counseling in South Africa, check out this blog post from My Gene Counsel which features genetic counselors from South Africa as Trailblazing genetic counselors! You can also follow Sam’s Instagram account @samthegc, to learn more about the day-to-day life of a genetic counseling student in South Africa! Kira also mentioned a couple other episodes during the recording… #117 Dr. Janina Jeff (In Those Genes Podcast) on African Genomes #216 African American Ancestry with Nicka Smith Shoutout to our Social Media Intern, Kajal Patel, for introducing us to Samantha Bayley and making this episode happen! Stay tuned for the next new episode of DNA Today on February 3rd, 2023 where we are kicking off our rare disease awareness month celebrations by discussing Wilson’s disease with Naseem Amin of Orphalan! New episodes are released every Friday. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. We are looking forward to celebrating rare disease awareness month this February on DNA Today. Our first episode will be about Wilson’s disease. The CEO of Orphalan joins the show to provide a major update on treatment for those with the condition. A new FDA approved drug!Mark your calendar for February 3rd, that’s when this episode about Wilson’s disease will drop, it will be Episode #222. Get a head start o

This week we’re discussing all things microfluidics! Joining us for this discussion is Franz Pruefer. He is the Co-Founder of Maxwerk Bio which has a pipeline of biotech diagnostic and therapeutic devices. Franz is also the Co-Founder of CERTESS Therapeutics an early stage Cell Therapy Company in stealth mode based in Cambridge, Massachusetts. Under the pharmaceutical division, Maxwerk supplies injectable and solid dose manufacturing machinery, and pharmaceutical engineering and construction. Their customers include domestic and multinational pharmaceutical (Global Fortune 500) companies with production facilities in Mexico, Central America, the Caribbean, and more! Under the biotech division, Maxwerk’s team of multidisciplinary scientists are working to develop novel and innovative biotechnology products for diagnostic and therapeutic applications. Their team is comprised of talented individuals from biotechnology, synthetic biology, engineering, chemistry, and artificial intelligence. Under Maxwerk Healthcare, they supply medical devices and consumables for hospitals in Mexico, Central America, and the Caribbean On This Episode We Discuss: Microfluidics overview The evolution of microfluidic technology over the last 4 decades Applications of microfluidics within healthcare How microfluidic based testing can perform single cell studies Droplet-based microfluidics The cost difference between microfluidic based tests and standard tests How microfluidics offers a unique advantage to patients who live in more remote areas of the world Applications outside of the healthcare space (space medicine, security at airports, stadiums, etc.) Upcoming projects at Maxwerk You can stay up to date with Maxwerk’s projects and Franz by following him on Twitter. Stay tuned for the next new episode of DNA Today on January 27th, 2023! New episodes are released every Friday. In the meantime, you can binge over 219 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our Outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored) If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

A new year means a new podcast! We are thrilled to announce that our host, Kira Dineen, is a co-producer of a new rare disease and medical challenges podcast called, It Happened To Me. In celebration of the launch we wanted to share an upcoming episode of the podcast where the hosts Cathy Gildenhorn and Beth Glassman interviewed Kira Dineen. There will also be another episode on the show where they flip roles and Kira interviews Cathy and Beth about their patient advocacy and stories. Hope you enjoy this episode and be sure to subscribe to It Happened To Me in your podcast player. We would really appreciate a rating and review as well on Apple and Spotify. This is KEY for a successful launch! Kira Dineen, MS, LCGC, CG(ASCP)CM has over a decade of podcast experience fueled by a passion for science communication. She has hosted and produced 7 podcasts. Her main show, "DNA Today", is in the top 1% of podcasts globally. Listeners Discover New Advances in the world of genetics through Kira’s interviews about genetic technology, disorders, and news. The show won the Best and Science and Medicine Podcast Awards for the last three years, among other awards. “DNA Today” has produced over 215 episodes. Kira is also the host of the PhenoTips Speaker Series, a live webinar interviewing international genetic leaders. Kira produces the Patient Empowerment Program, which is a nano-rare disease podcast. She was selected and served as a member of the National Society of Genetic Counselors’ Digital Ambassador program. Kira received her Diagnostic Genetic Bachelor’s of Science degree at the University of Connecticut and is a certified Cytogenetic Technologist. She received her Master’s of Science in Human Genetics at Sarah Lawrence College in New York and is a licensed certified genetic counselor currently practicing in Stamford, CT. On This Episode We Answer: When should people consider genetic counseling? Do you need a referral? Does insurance pay for genetic testing and counseling? Is genetic testing done before or after the visit? How many visits are typically involved for genetic counseling? What reproductive options do couples have? How do genetic counselors help people with genetic conditions? Why are the advantages of having genetic testing? What have you learned from interviews with patients and rare disease advocates? Do you recommend joining rare disease advocacy groups? Which ones? Why study rare diseases? What is CRISPR? How could this help with treatment of even cures of genetic conditions? What are nano-rare diseases? For more information check out the National Organization of Rare Disorders’s Rare Disease Fact sheet. Stay tuned for the next new episode of DNA Today on January 20th! New episodes are released every Fridays. In the meantime, you can binge over 220 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens (Sponsored) If you’ve been listening to DNA Today for a while, you probably know I am also a full time prenatal genetic counselor. Between that job, this podcast, and being a producer/host of other podcasts, I am pretty busy! To keep my energy up and stay productive I drink a decent amount of coffee. The new coffee I’m drinking is from Four Sigmatic. I’m really picky about my coffee, it’s got to be bold, not watery. And I’ve been really happy with Four Sigmatic. Here’s the difference from other coffees, it includes mushrooms, which I know sounds bizarre. I will admit I was hesitant, but you get health benefits and don’t taste it. I like the immune system boost, as I often get sick in the winter months. So we teamed up with Four SIgmatic to get you 30% off using promo code “DNATODAY” redeem it at FourSigmatic.com, again that’s FourSigmatic.com using code “DNATODAY” for 30% off! And let me know if you like it too! (Sponsored)

Happy New Year! Joining us for the first episode of 2023 is Betsy Humphreys, Karen Volle and Karina Mancini, who will share their experience with the New Hampshire-Maine Leadership Education Neurodevelopmental Disabilities (LEND) and the New England Regional Genetics Network programs, and how they relate to genetics advocacy. Elizabeth Humphreys is the Director of the Leadership Education in Neurodevelopmental Disabilities (LEND) Program at the University of New Hampshire, a graduate leadership training and workforce development program aimed at improving systems of care for children with special health care needs. Since 2010 she has secured nearly 11 million dollars to implement the program in collaboration with the University of Maine UCEDD and Dartmouth Hitchcock Medical Center. She is a Research Assistant Professor of Early Childhood Special Education in the UNH Department of Education. Dr. Humphreys has worked extensively throughout early intervention settings since 1985 in collaboration with public education, Head Start, state partners and childcare programs with a focus on developmental monitoring and screening in infants and toddlers. Dr. Humphreys research integrates two research to practice areas: 1) evaluating the effectiveness and accessibility of evidence-based interventions and services for young children with neurodevelopmental disabilities and their families, and 2) examining leadership frameworks that establish and support cross-systems collaborations for health and early education professionals. She has also co-authored book chapters, as well as numerous peer-reviewed manuscripts and presentations. Karen Volle has been a Project Director with the Institute on Disability at the University of New Hampshire since February 2008 . Directly before this position Karen worked as a research assistant with the Crimes Against Children Center at UNH. Karen has a strong background in human services, having directed a Juvenile Intake program for eighteen years prior to working at UNH. This experience spanned child welfare, the juvenile court system and social services, and helped Karen learn to look across systems as well as to manage day to day activities. She now uses those skills at the IOD. She received her BA in psychology from Coe College Karina is a LEND trainee, student, genetics professional, and prospective genetic counseling student based in New Hampshire. She completed her undergraduate degree in Diagnostic Genetic Sciences with a concentration in Cytogenetics at UConn. After graduation, she worked for two years as a cytogenetic technologist for a diagnostic hospital lab. Karina has a passion for genetics education and advocacy. Currently, she is a student in the NH-ME LEND program working on furthering her experience with the disability community, and hopes to attend a Master’s in Genetic Counseling program in the near future. In this episode we discuss: The mission of the LEND Program How LEND helps people and families affected by neurodevelopmental disabilities Concepts and skills taught in LEND Who is eligible to participate in LEND The LEND student experience How LEND prepares students for careers in genetic counseling Universities that offer LEND and how students can get involved To learn more about LEND and how to get involved, check out their website. Stay tuned for the next new episode of DNA Today on January 13th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored) I don’t know about you, but I am always looking for the next podcast to add to my queue. When I subscribe to a new one, I like letting you know. If you are thinking about going to grad school or are currently in grad school I recommend checking out my friend David’s podcast, Papa PhD. I am a litt

Patient advocate, Mike Graglia, and genetic counselor, Elli Brimble, join DNA Today for a conversation about SYNGAP1-related non-syndromic intellectual disability, a rare genetic disorder caused by a variant on the SYNGAP1 gene. Mike Graglia has always worked on complicated problems – he can’t help himself. So when his son was diagnosed with SYNGAP1 in 2018, he founded the SynGAP Research Fund and continues to lead it as a volunteer. Mike has been trying to make the world a better place for a while – after the Peace Corps & grad school (MBA/MA) he joined the World Bank, then BCG Healthcare and eventually the Gates Foundation. His professional background is an ideal preparation for leading SRF to a cure for SYNGAP1. Elli Brimble has worked as a genetic counselor since 2016 and is currently the Research Director for Rare Disease at Ciitizen (now part of Invitae), a company that empowers people with access to their health data. She earned her B.Sc. in Genetics at Western University, a M.Sc. in Molecular Genetics at the University of Toronto, and pursued her genetic counseling degree at Boston University School of Medicine. On This Episode We Discuss: Mike’s experience as a patient advocate and his son Tony’s diagnostic odyssey Elli’s role as a genetic counselor in diagnosing SYNGAP How SYNGAP1 affects the body on a biochemical level (SYNGAP1 haploinsufficiency) Sleep issues associated with SYNGAP and other symptoms The prevalence of SYNGAP and why it’s advantageous to identify 1,000 or more people with the condition Labs and organizations that have been helpful in supporting the SYNGAP community Connecting with fellow parents/caregivers who have kids with SYNGAP The status of SYNGAP1 research and potential treatments Mike’s podcast, SYNGAP10 You can learn more about Mike’s family and the SynGAP Research Fund in this youtube video, and by following them on Twitter (SynGAp Research Fund, Mike Graglia), Facebook, LinkedIn, and Instagram. Stay tuned for the next new episode of DNA Today kicking off the new year on January 6th, 2023! New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored) As a listener of DNA Today, you probably heard me talk about NIPT, non-invasive prenatal screening, that looks for extra or missing chromosome conditions during pregnancy. But did you know there is one that can also screen for recessive disorders (like cystic fibrosis) and fetal antigens? BillionToOne offers UNITY Screen, which does all this from one blood draw from a pregnant person. Visit unityscreen.com for more info. And stay tuned for our upcoming episodes with BillionToOne exploring non-invasive prenatal screening for recessive conditions and red blood cell fetal antigens! (Sponsored) Do you like listening to podcasts that help you get centered and reframe your mindset? Check out All Things Therapy. The show focuses on the concept that we can change consciousness one conversation at a time. Most episodes are the same length as ours, about a half hour, and feature an engaging guest. You can stream on all major podcast players by searching “All Things Therapy”.

Nicka Smith (she/her), a pro genealogist with over 20 years of experience, joins DNA Today for our second to last episode of the year! She is the host of BlackProGen LIVE, a web series focused on genealogy and family history with a special focus on people of color. Nicka Smith is a professional photographer, speaker, host, consultant, and documentarian with more than 20 years of experience as a genealogist. She has extensive experience in African ancestored genealogy, reverse genealogy, and is expert in genealogical research in the Northeastern Louisiana area, and researching enslaved communities. Nicka has diverse and varied experience in media with a background in audio, video, and written communications. She’s appeared on TODAY Show, CNN, MSNBC, on the series Who Do You Think You Are and has been interviewed by Oakland Tribune, The Undefeated, National Geographic, and TIME. She is a citizen of the Cherokee Nation of Oklahoma, a member of two lineage societies (Sons and Daughters of the Middle Passage (SDUSMP), National Society of Daughters of the American Revolution (DAR)), and a past board member of the California Genealogical Society (CGS) and the African American Genealogical Society of Northern California (AAGSNC). Nicka served as the chair of the Outreach and Education Committee for AAGSNC, and is the former project manager for the Alameda County, CA Youth Ancestral Project where more than 325 youth were taught the value of family history. On This Episode We Discuss: Why people are drawn towards ancestry How ancestry can be valuable information Why the ancestry percent changes over time in direct-to-consumer DNA testing Companies with diverse databases How genetic testing companies can be more inclusive with their databases Why it’s helpful to look at the Y chromosome and mitochondrial DNA when exploring maternal and paternal specific lineage How haplogroups can help with ancestry research Tracking down formerly enslaved ancestors and which records to use Nicka’s personal experience tracking her family history Kira mentioned a few videos and blog posts from Nicka Smith including Trask 250 Multimedia Series, How to Trace Your Ancestors as Slaves, and 5 Lies About African American Genealogy and Family History Research. Learn more about Nicka and her important work on her website, and follow her on Twitter, Facebook, Instagram, and YouTube. Stay tuned for the next new episode of DNA Today on December 30th, 2022! This will be our final episode of 2022, and we’ll be joined by Mike Graglia and Elli Brimble to discuss SynGAP10. New episodes are released every Fridays. In the meantime, you can binge over 215 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. Check out our interview with the Founder and CEO of Panacea, Dahlia Attia-King, in Episode #215 of DNA Today. (Sponsored)

Our guest today is Dahlia Attia-King, Founder and CEO of Panacea. Panacea’s mission is to improve access and utilization of genetic testing by offering affordable whole exome sequencing, physician oversight, and genetic counseling all in a 10 minute workflow. This week we are chatting about utilizing whole exome sequencing for preventive health. Dahlia’s education in biology and experience working with genetic laboratories exposed her to the reality that many middlemen stood in the way of patients receiving valuable clinical genetic tests. She embarked on a multi-year journey to discover the reasons for the barriers and was inspired to create a solution. Dahlia and her co-founders founded Panacea with a mission to increase access to clinical genetic testing. With an additional 6 years in Healthcare IT, Dahlia learned about the technology solutions integral in pushing genetic testing and healthcare into a much needed era of modernization. On This Episode We Discuss: The difference between whole exome and whole genome sequencing Why WES vs panels? Examples of conditions that we can learn risk level for through WES The future of insurance coverage of WES for preventative health purposes Importance of pre-test education of tests How the cost of WES has changed over time Founding Panacea Depth of coverage of the sequencing through Panacea Post-test genetic counseling with Panacea To learn more about Panacea and WES, follow them on Instagram or head to their website. Stay tuned for the next new episode of DNA Today on December 23rd, 2022 where we’ll be discussing African American Ancestry with Nicka Sewell-Smith! New episodes are released every Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. Pharmacogenomics is a field of research that studies how a person's genes affect their response to medications. LetsGetChecked’s myPGx, is a new offering for business clients. This robust testing panel identifies potential drug-gene interactions for over 100 drugs across behavioral health, cardiovascular health, and pain management. This accounts for over 800 million annual prescriptions in the US alone. To learn more visit letsgetchecked.com/mypgx. LetsGetChecked also provides access to testing, virtual consultations, and medication delivery for a range of health and wellness conditions from the comfort of home. Visit LetsGetChecked.com to shop their health tests and use code “DNATODAY” for 20% off! (Sponsored)

Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don’t wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now. (SPONSORED) As a listener of DNA Today you have heard me interview countless guests about genetic testing. I’m sure you have thought to yourself, “I wonder what my results would be”. Now you can find out or gift it to someone else for the holidays! At Panacea, you can access affordable Whole Exome Sequencing, that’s analyzing all of your coding genes, genetic counseling and physician oversight in a 10-minute workflow for under $1000. Their launch is starting with residents of Florida, so if you live in other states or countries sign up on their website to be notified when testing is available in your area. As a DNA Today listener you get 30% off (that’s a $300 discount), just use the code “DNATODAY” at seekpanacea.com. (SPONSORED) Our guest today is Dr. Eric Green, the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). Dr. Green’s career has involved directing a major genomics research program and, most recently, leading NHGRI’s efforts in funding genomics research. In this episode, we are discussing the top genetic and genomic news stories of 2022 including what you listeners submitted! Shoutout to Daniel, Nydia, M.SPDH, Anna, Ryan and Nykole. Throughout his career, he has authored and co-authored over 385 scientific publications. He was featured on episode #182 of DNA Today when we chatted about the Human Genome Project and the recent completion of the human genome sequence -- from telomere to telomere. As NHGRI director, Dr. Green leads the Institute's research programs and other initiatives. He has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. Dr. Green received his B.S. degree in bacteriology from the University of Wisconsin - Madison in 1981, and his M.D. and Ph.D. degrees from Washington University in 1987. Coincidentally, 1987 was the same year that the word “genomics” was coined. Dr. Green’s relationship with the Institute began long before his appointment as director. He served as the Institute’s scientific director (2002 - 2009), chief of the NHGRI Genome Technology Branch (1996 - 2009) and founding director of the NIH Intramural Sequencing Center (1997 - 2009). Prior to that, he played an integral role in the Human Genome Project. Dr. Green is a founding editor of the journal Genome Research (1995 - present) and a series editor of Genome Analysis: A Laboratory Manual (1994 - 1998), both published by Cold Spring Harbor Laboratory Press. He is also co-editor of Annual Review of Genomics and Human Genetics (since 2005). On This Episode We Discuss: Completion of the human genome sequence (telomere to telomere) The Genome-sequencing arms race (Lab mergers and changers) Top genomic medicine papers of 2022 Changing landscape of the genomic diagnostic ecosystem Gene therapy advances including CRISPR Genome Sequencing of Acutely Ill Newborns through beginNGS 2022 Nobel Prize Physiology or Medicine to Svante Pääbo for sequencing Neanderthal genome What to look out for in 2023 Here is a list of links to the papers and announcements we mentioned in this episode! Genomic Medicine Year in Review: 2022 (Paper) Genome.gov accomplishments in genomic medicine (includes 2019-2022 notable accomplishments) Dr. Green’s tribute to Svante Paabo when he won the Nobel this year, with links to his talks at NIH. Our breakdown of Ultima’s announcement and the sequencing costs developments this year. The epic T2T news, with background, links to the papers and some explainers. Based upon the success of gene therapy trials, there are new educational materials for the sickle cell community on how to navigate this new treatment option. DNA Today Episodes Referenced: Episode #169 Cytogenomics with Phase Genomics (Optimal genome Mapping) Episode #172 PhenoTips: Advances in Rare Disease Diagnosis (with Dr. Steven

It’s December which means Spotify Wrapped was announced! If you are one of the 2,616 people that had us on your Spotify Wrapped Podcast section, tag us in your story or post for a shoutout on the show! Thanks to Maya, Em, Carly, Allison and LittleDipperPomskies, for already sharing. For those that don’t follow us on social media @DNATodayPodcast, here are this year’s highlights…So far this year we have produced 1,747 minutes of new content, that’s nearly 30 straight hours. And it’s more than 98% of other science podcasts. We are humbled by how much the podcast has grown this year, our followers on Spotify alone grew 85%. And 97% of you discovered us this year. Welcome to all our new listeners from this year! Our reach around the world has expanded now, you are listening from 75 countries! On Spotify we have a rating of 4.9 stars, and we will only keep it that way if you all give us those stars. HUGE thank you to our team for making all this happen… Corinne, Amanda, Kajal, Sanya, and Ashlyn. Shoutout to our 40+ sponsors who support the show, checkout the full list here. And most of all THANK YOU LISTENERS! You are why we put so much work into the show. We love including you on the show, so email us what you think the biggest genetics news story of 2022 has been, then you will be featured in our year wrap up episode with Dr. Eric Green. Email is [email protected] Our guest today is Sage Sargent (She/Her), who is a patient advocate for congenital adrenal hyperplasia (CAH). Sage is a 27 year old non-binary person who was diagnosed with classic CAH before the age of 1. She has a bachelors in Gender studies with a minor in Ethnic studies from the University of Utah where she graduated in 2021. Through her education and her connection to the queer community Sage has been able to heal some of the disconnect she felt growing up, when she didn’t have the language to describe her experience. Now as an adult Sage hopes that her lived experience as an intersex person can help others who might feel as lost as she once did. On This Episode We Discuss: How hormones are imbalanced in people with CAH The two main types of CAH and their symptoms Getting diagnosed with CAH CAH inheritance and carrier screening Treatments that people with CAH can utilize and their side effects CAH and the LGBTQIA+ community CAH and gender identity Gene therapy for CAH Advice and insight for parents of a child who has been newly diagnosed with CAH or couples who are carriers of the condition If you’d like to check out the papers that we referenced in the episode, you can read those here: Gender-role behaviour and gender identity in girls with classical congenital adrenal hyperplasia and Gender Identity in Patients with Congenital Adrenal Hyperplasia Stay tuned for the next new episode of DNA Today on December 9th, 2022 where we’ll be joined by patient advocate Mike Graglia and genetic counselor Elli Brimble to discuss SynGAP1! New episodes are released every Friday. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer is Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected]. SPONSORED: Are you seeking a position as a Genetic Assistant? People in these vital roles aid with clinical and research patient communication, data entry, genetic testing coordination, and administrative tasks. Therefore training is key! We recommend The Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine. This online program provides knowledge and skills to learners considering Genetic Assistant positions or those recently hired into these roles who need job training. This program consists of two 10-week instructor-led courses. All you need is a basic understanding of science, particularly biology. At the successful completion of the program, learners will receive a certificate of completion from the Johns Hopkins School of Medicine and the McKusick-Nathans Department of Genetic Medicine. Applications are open for the spring cohort starting January 23rd, 2023. Applications for partial tuition waivers to help offset the cost of the program are due December 23rd. Don’t wait! Check out the Genetic Assistant Online Training Program at Johns Hopkins University School of Medicine now.

We are recapping and reflecting on the National Society of Genetic Counselors 41st Annual conference, which was just held in Nashville. Some attendees joined in virtually and others, like myself, joined in person. It was incredible to meet so many of you listeners. I am already looking forward to NSGC 2023 in Chicago in October. If I didn’t get a chance to say hi to you, or you couldn’t attend the conference, email me at [email protected]. I’d love to connect and also add you to our email newsletter so you can stay updated on DNA Today. Oh and don’t forget to enter our giveaway from last episode for one of 5 copies of the Genome Defense. You can enter on our social media on Twitter, Instagram, LinkedIn, and Facebook all @DNATodayPodcast. Enjoy our thoughts on the conference and what we learned! I am honored to feature four outstanding genetic counselors (wish I had time to include even more). Check out their bios below including what we chatted about during their segment of the show. Monisha Sebastin, MS, CGC (She/Her) is a genetic counselor who specializes in pediatric genetics, cardiovascular genetics, and immuno-genetic conditions in New York City. She is this year’s recipient of the Heart of Genetic Counseling Award that recognizes one genetic counselor every year who goes above and beyond for their patients. Monisha was a presenter at “We’re Not In Kansas Anymore, Toto! International Genetic Counselors’ Experiences in the US” which we chat about in this episode. Monisha continues to serve as co-chair of the USIGC sub-committee of the International Special Interest Group (SIG) and as co-chair of the Pediatric and Clinical SIG at the National Society of Genetic Counselors (NSGC). Monisha is a member of the NYCKidSeq research team and is the lead genetic counselor on her team. She volunteered as the chair of the education committee at the New York State Genetics Task Force (NYSGTF) in 2020 and 2021. You can follow Monisha on Twitter and connect with her on LinkedIn. Gabrielle Shermanski, MS, LCGC (She/Her) is a cancer genetic counselor and research coordinator at Geisinger in Pennsylvania. She earned her Master of Science in Human Genetics at Sarah Lawrence College. Gabrielle earned her Bachelor of Science in Psychology at Penn State University. We discussed the session she attended which explored the new NCCN guidelines. The updated guidelines recommend genetic testing for anyone with colorectal cancer and genetic testing for people assigned female at birth diagnosed with breast cancer 50 years or younger. You can connect with Gabby on LinkedIn. Gabrielle Ernst, MS, CGC (She/Her) is a cancer genetic counselor. She is one of the creators of Amplify Sprouted, which provides education on gender inclusive genetic counseling. Our host, Kira Dineen, was a participant in the workshop that accompanied the Amplify Sprouted content. She was one of the presenters during “Platform Presentations - Gender, Sexuality, and Identity Related to Genetic Counseling Practice” at the conference, which we chat about in this podcast episode. Gabrielle has four publications in the oncology field. She earned her Bachelor of Science in Genetics from the Ohio State University and Master of Science from the University of Michigan. You can follow Gabrielle on Twitter and connect with her on LinkedIn. Ashlyn Enokian, MS, CGC (She/Her) is a prenatal genetic counselor in Las Vegas, Nevada at a clinic with a high patient volume. She is a member of the Minority Genetic Professional Network (MPGN) and provides mentorship for genetic counseling students. Ashlyn is also the Business Liaison for GC Genius Guides. The name might be familiar with their popular Study Guide utilized by over 400 genetic counselors studying for boards and more. During the conference, GC Genius Guides launched flashcards featuring the Top 100 Genetic Conditions and sold out within 24 hours. Keep that site bookmarked and use code “DNATODAY” for a discount when they restock. Using the code helps support the podcast, so please do! And of course, she is on our DNA Today team as our graphic designer and the one to thank for our snazzy logo. You can follow Ashlyn on Twitter and connect with her on LinkedIn. Resources: NSGC International Special Interest Group’s Twitter and Website. Their email is [email protected] DNA Today Episode #109 Shenela Lakhani on Genetic Counseling in Qatar Updated National Comprehensive Cancer Network (NCCN) Guidelines Amplify Sprouted for Gender Inclusive Cancer Genetic Counseling (Password: Amplify21) Amplify Sprouted for Gender Inclusive Prenatal/Preconception Genetic Counseling (Password: sprouted22) DNA Today Episode #190 PhenoTips: Gender Affirming Care in Genetic Counseling (with Holden Bender-Bernstein) GC Genius Guides’s Etsy page (use code “DNATODAY” for discounts, which supports the show) You can check out our previous NSGC recap episodes… Episode #111 NSGC 2019 Episode #135 NSGC 2020 Episode #157 NSGC 2021 This episode w

Our guest in this episode is Jorge Contreras, author of The Genome Defense. In this riveting, behind-the-scenes courtroom drama, a brilliant legal team battles corporate greed and government overreach for the fundamental right to control our genes. We’re giving away 5 copies of The Genome Defense, so be sure to check out our social media accounts for the giveaway details. If you don’t win, you can get a copy here. When you buy a copy of the book, half of the proceeds are donated to FORCE, an organization that strives to improve the lives of individuals and families facing hereditary cancer. You can learn more about the book on Contreras’ website, genomedefense.org. Jorge Contreras (he/him) is the James T. Jensen Endowed Professor for Transactional Law and Director of the Program on Intellectual Property and Technology Law at the University of Utah S.J. Quinney College of Law, with a secondary appointment in the Department of Human Genetics. His research focuses on intellectual property, technical standards and science policy, and he is one of the co-founders of the Open COVID Pledge, a framework for contributing intellectual property to the COVID-19 response. He is the editor or author of twelve books and more than 150 scholarly articles and book chapters. During his career he has served on the NIH Council of Councils and the National Advisory Council for Human Genome Research, and as Co-Chair of the National Conference of Lawyers and Scientists. His most recent book, The Genome Defense: Inside the Epic Legal Battle to Determine Who Owns Your DNA (Algonquin, 2021) describes the litigation that ended gene patenting in America. He is a graduate of Harvard Law School (JD) and Rice University (BSEE, BA). Learn more about Jorge here. On This Episode We Discuss: Why the ACLU and other groups felt so strongly that gene patents should be banned Factors that lead to the ACLU choosing Myriad and specifically the BRCA related gene patents for the lawsuit The role that public perception played in the AMP vs. Myriad case The predicted impact of banning gene patents on the economy and public health The main points that were argued in the AMP vs. Myriad case cDNA and gDNA How the ban of gene patents has impacted the biotech industry Legislation and current cases that we should be aware of that affect the field of genetics We also asked listener questions on this episode, so tune in to see if we answered yours! You can follow Jorge onTwitter and LinkedIn to stay up to date on his latest work! Stay tuned for the next new episode of DNA Today next week where our host, Kira Dineen, will be recapping the NSGC Annual Meeting! New episodes are released on Fridays. In the meantime, you can binge over 210 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is created, hosted, and produced by myself, Kira Dineen. Our team includes Communications Lead, Corrine Merlino. Video Lead, Amanda Andreoli. Outreach Intern, Sanya Tinaikar. Social Media Intern, Kajal Patel. And Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. TrakGene has designed a genetics electronic health record. Here’s what it features: pedigrees, demographic data, genetics information, risk tools, and sophisticated reporting, all within a clinician designed workflow. It integrates within other clinical genetic software, databases, and hospital information systems to maintain accurate patient records. Go check it out at Trakgene.com. Be sure to check out Episode 208 and Episode 210 of DNA Today featuring Trakgene. [Sponsored]

After two years of virtual NSGC conferences, I can’t wait to see many of you in Nashville next week! Say “hi” if you see me! If you want to be featured in our NSGC recap episodes, let me know. I would love to capture your impression of the conference to feature on the episode. Maybe you will get DNA Today merch in exchange… I will be spending a lot of time in the exhibit hall, so look for me there. As some of you may know our host, Kira Dineen, is a prenatal genetic counselor! Today’s episode topic is something that she talks about every day, family history in reproductive medicine! Joining us for this discussion is Dr. Tristan Hardy who is a dual-trained obstetrician/gynecologist and genetic pathologist with a particular focus on reproductive genetics. Tristan Hardy is a Consultant Gynecologist at Repromed and the Medical Director of Genetics at The Monash IVF Group, both in Australia! Dr Hardy completed his medical degree at the University of New South Wales and undertook specialty training in Obstetrics and Gynecology at the Royal Hospital for Women, Sydney and the Women’s and Children’s Hospital, Adelaide. Alongside specialist training, he completed a Masters in Reproductive Medicine and a PhD focussing on new methods of Preimplantation Genetic Testing. Following completion of training in Obstetrics and Gynecology, he undertook a fellowship in genetic pathology at SA Pathology. He is Australia’s only dual-qualified Obstetrician/Gynecologist and Genetic Pathologist. Dr. Hardy’s special interest is in helping couples who are planning genetic testing of their embryos, due to genetic conditions identified in previous pregnancies or on carrier screening. He runs a joint clinic with Dr. Jan Liebelt (Clinical Geneticist) to provide comprehensive care of couples undergoing IVF with Preimplantation Genetic Testing. Dr Hardy is experienced in all aspects of fertility management and performs clinical procedures including oocyte retrievals, embryo transfers and IUIs. On This Episode We Discuss: When family history is relevant to reproductive health General trends for people to keep in mind (early onset conditions, birth defects/differences, stillbirths/infant deaths, genetic disorders) What family health history information patients should try to gather prior to meeting with a reproductive healthcare specialist What people pursuing IVF/IUI using a donor egg/sperm should pay attention to in the donor profile Why having a family history of early menopause (early 40s) can increase the risk of having fragile X carriers in the family What type of genetic testing people that have had multiple miscarriages or infertility or their personal or family medical history Why it’s important for every patient to be offered carrier screening regardless of ancestry and family health history How digital pedigrees are aiding patient care Digital pedigree builder (like Trakgene) and its use in the IVF/IUI setting Don’t forget to enter our giveaway to win a lifetime TrakGene license for their pedigree software (worth $1,000/year)! TrakGene is also giving away 10 copies of “The Patient Will See You Now” By Eric Topol. Enter on Instagram, Twitter, LinkedIn, and Facebook. All of our listeners can receive a free, 12-month TrakGene software trial by using the code “DNAToday”. Here is an article about “Mackenzie’s Mission”, a research project in which 10,000 couples undergo screening, that Dr. Hardy mentioned during the interview. To learn more about TrakGene, the pedigree drawing tool and clinical genetics database software company that we discussed in this episode, you can head to their website or follow them on Twitter, Facebook, LinkedIn, and YouTube! Stay tuned for the next new episode of DNA Today on November 18th, 2022! New episodes are released on Fridays. In the meantime, you can binge over 205 other episodes on Apple Podcasts, Spotify, streaming on the website, or any other podcast player by searching, “DNA Today”. Episodes since 2021 are also recorded with video which you can watch on our YouTube channel. DNA Today is hosted and produced by Kira Dineen. Our social media lead is Corinne Merlino. Our video lead is Amanda Andreoli. Our outreach Intern is Sanya Tinaikar. Our Social Media Intern is Kajal Patel. And our Graphic Designer Ashlyn Enokian. See what else we are up to on Twitter, Instagram, Facebook, YouTube and our website, DNApodcast.com. Questions/inquiries can be sent to [email protected]. Are you a genetic counselor or genetic counseling student? Want to enter to win a $100 Amazon gift card? Participate in a quick survey this November to capture your insight on clinical trials. The goal of this study is to assess if, how, and when genetic counselors discuss clinical trials within their practice and document their process. Also the researchers will look to define a framework for current genetic counselors to incorporate clinical trials in their own practice. It took me about 15 minutes to fill it out. Link to the survey