DNA Today: A Genetics Podcast

What happens when a rare, devastating genetic condition impacts not just one person in a family, but three siblings? In this episode of DNA Today, we’re joined by siblings Faith Sinclair and Dan Peach who both have sialidosis. Sialidosis is a rare lysosomal storage disorder that often leaves families searching for answers for years. Faith and Dan share their deeply personal journey with the condition, from the initial struggles of seeking a diagnosis for their brother, Antonn, to the cutting-edge gene therapy research currently underway. Inside This Episode: The Diagnostic Odyssey Faith and Dan share the emotional impact of living with Sialidosis and the long road to a definitive diagnosis. We explore the uncertainty that many rare disease families face and how receiving an answer after years of "red flags" reshaped their lives. Understanding Sialidosis (The Science) We break down the clinical and cellular mechanics of Sialidosis. We discuss: The role of the NEU1 gene and how mutations lead to cellular dysfunction. The two primary forms of the condition (Type I and Type II) and their clinical presentations. Why Sialidosis is frequently misdiagnosed or overlooked by clinicians. Daily Life & Advocacy What does it look like to manage a rare condition day-to-day? Faith offers a candid look at the balance between medical management and the psychosocial burden on patients and siblings. Dan discusses how his personal and familial connection fueled the mission of Cure Sialidosis. The Future of Treatment: Gene Therapy We look toward the horizon of rare disease research. Sialidosis is currently entering the pre-clinical gene therapy stage, where the goal is to correct the NEU1 gene. Dan provides an update on the status of enzyme replacement and the global drive to raise funds for manufacturing the treatments required for human trials scheduled for 2026. About Our Guests: Dan Peach is a founding member of Cure Sialidosis and a board member of Cure Mucolipidosis. As one of five siblings, three of whom were affected by Sialidosis, his connection to the disorder is profound. Since helping facilitate the diagnosis of his brother Antonn and sister Faith, Dan has become a dedicated patient-researcher. He leads a global community of patients, clinicians, and researchers, collaborating worldwide to address the root causes of the disease and improve outcomes for all affected. Faith Sinclair is a patient advocate living with Sialidosis, and sister to Dan. Her journey from years of medical uncertainty to a definitive diagnosis has made her a vital voice in the rare disease space, dedicated to sharing the unique perspectives of patients and their families. Relevant Resources: CureSialidosis.org Kiwi siblings battling rare genetic condition Sialidosis therapy: Kiwi siblings fundraise for injection against disease that killed brother - NZ Herald More Lysosomal Storage Disorder Episodes on DNA Today: #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I #376 Why Females with Fabry Disease Aren’t “Just Carriers” #372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy #292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research) #281 Tay-Sachs with Dr. Matthew Goldstein #171 Farber Disease with Aceragen Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

In this special live recording from The University of Connecticut’s 2026 Rare Disease Symposium, host Kira Dineen, moderates a powerful panel featuring individuals living with rare conditions. The conversation moves beyond clinical diagnostics to explore the "hidden work" of navigating the healthcare system, the trauma of medical dismissal, and the fierce advocacy required to survive and thrive in a complex medical landscape. Shoutout to the lead organizer Anthony Zuo for putting this conference together. The Panel (in order of appearance) David (Dave) Leeds: Lives with Hereditary Angioedema (HAE) with normal C1 inhibitor (specifically the HS3ST6 gene mutation), a type of HAE that affects fewer than 20 people worldwide. He also advocates for his son, who has Specific Antibody Deficiency. Kate Tokarski: A social worker and former paramedic living with three conditions: vitiligo, type 1 diabetes, and SUNCT syndrome (short-acting unilateral neuralgiform headache with conjunctival injection and tearing). She navigates a "rare family" dynamic, including children affected by gastroparesis, keratoconus, juvenile arthritis, celiac disease, ampfield pain syndrome, COPA syndrome, and median arcuate ligament syndrome. Jill Gassman Zullo: Lives with Sinus Nasal Mucosal Melanoma, a rare cancer affecting less than 1% of the population. She is the author of Brokenly Beautiful. Jonathan Cappiello: After 20 years of having a misdiagnosis, he was correctly identified as having a nano-rare disease, 3-hydroxy-3-methylglutaryl-CoA synthase deficiency. He is also the host of 1 of 20 podcast. Topics Discussed The Burden of Expertise A recurring theme is the "expert patient." Panelists describe the exhaustion of knowing more about their conditions than the providers treating them. Kira emphasizes the importance of medical professionals being comfortable saying, "I don't know," rather than muddling through an answer. Navigating the Emergency Room David describes the danger of ER protocols. For HAE patients, standard allergy treatments like EpiPens and steroids do nothing for their Bradykinin-based swelling, which can be fatal if it affects the throat. The panel discusses "Medical PTSD" and why the ER is often a place of last resort. The Battle with Insurance and Systems Kate shares a heartbreaking story of "Systemic Trauma": The Insurance Loop: Her daughter was denied a life-changing medication due to a bureaucratic glitch. The School-to-Court Pipeline: Because she missed school due to her autoimmune crises, Kate was reported for neglect, and her 16-year-old was read her Miranda Rights in family court for being a "truancy outlier." The Power of Community and Storytelling Jonathan discusses his journey as a science podcaster, using his background in film and journalism to give a platform to others with rare diagnoses. The panel highlights how storytelling is a form of survival and a tool for systemic change. Relevant Resources: Jill Gassman Zullo’s book Brokenly Beautiful Jonathan Cappiello’s podcast 1 of 20 podcast Kate Tokarski’s poem I Was 'That Mom' National Organization for Rare Disorders (NORD) Undiagnosed Disease Network (UDN) Genetic and Rare Diseases Information Center (GARD) Relevant Rare Disease Patient Advocacy Stories on DNA Today: #380 “Rare Rebels”: When Parents Drive Science, The Story of MPS I #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy #372 Fighting for Time: Hunter Syndrome, Gene Therapy & Urgent Advocacy #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #342 $10 Million for a Cure: Donating Mr. Beast’s “Beast Games” Winnings For Son’s Creatine Transporter Deficiency Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What does it mean to truly care for a child with achondroplasia beyond just their growth differences? Achondroplasia is the most common form of skeletal dysplasia, but it is so much more than height. Children and adults with achondroplasia can have medical complications that require lifelong monitoring and the need for lifelong multidisciplinary care. This is the second episode in our three-part series on achondroplasia, sponsored by BioMarin. In our first episode, (Episode 359 of DNA Today) Dr. Janet Legare helped us explore the basics of achondroplasia and the role of genetics in diagnosis and family counseling. In this conversation, we’re shifting the focus to what living with achondroplasia actually looks like day to day, from managing medical complications to coordinating care across multiple specialties. Joining us is Dr. Ricki Carroll, a complex care and palliative care physician on the multidisciplinary skeletal dysplasia team in Delaware. Dr. Carroll brings expertise in providing a medical home for children with skeletal dysplasias, with a special focus on pain and symptom management. She also co-leads a skeletal dysplasia consultative service, and her training in bioethics adds a unique perspective on delivering compassionate, individualized care. In This Episode, We Discuss Building a Medical Home What a “medical home” means for children with achondroplasia Common concerns families raise after a new diagnosis, beyond height Supporting families early while planning for long-term care Co-Morbidities & Clinical Complications Key conditions clinicians should monitor in infants and children, including: Foramen magnum stenosis Hydrocephalus Sleep apnea ENT issues like recurrent ear infections and hearing loss Orthopedic challenges such as kyphosis, spinal stenosis, and bowed legs How chronic pain presents and is managed across childhood and adulthood Living With Achondroplasia How medical needs evolve from childhood into adolescence and adulthood The role of fatigue, mobility limitations, and accessibility in daily life Balancing medical care with childhood independence and normalcy Under-recognized burdens that significantly affect patients and families Multidisciplinary Care in Practice What a full skeletal dysplasia care team looks like How palliative care supports symptom management, decision-making, and quality of life Coordinating care across specialties like orthopedics, neurosurgery, ENT, and audiology Preventing communication breakdowns between providers Helping families navigate complex choices around interventions and surgeries Looking Ahead Gaps in current care models for achondroplasia How emerging treatments are changing long-term planning conversations Key takeaways for providers who may only occasionally care for patients with achondroplasia Our Guest Dr. Ricki Carroll: Dr. Ricki Carroll is a complex care and palliative care physician on the skeletal dysplasia and palliative care teams at a hospital in Delaware. Dr. Carroll works to provide a medical home and manage care for children with a wide array of skeletal dysplasias. Her background in palliative medicine allows her to focus on pain and symptom management needs for these children, teens and young adults. Dr. Carroll also leads the skeletal dysplasia consultative service, providing care for infants and children with skeletal dysplasias who are in the hospital. Additionally, drawing upon her Master’s in Bioethics, she is currently serving as co-Chair of an Ethics and Patients’ Rights Committee. Achondroplasia Resources: Little People of America (LPA) Dwarf Athletic Association of America (DAAA) International Achondroplasia Forum Achondroplasia GeneReviews Achondroplasia Growth Charts Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435. Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010 Nadia Merchant, Julie Hoover-Fong, Ricki S Carroll, Approach to the Patient with Achondroplasia—New Considerations for Diagnosis, Management, and Treatment, The Journal of Clinical Endocrinology & Metabolism, Volume 110, Issue 7, July 2025, Pages e2309–e2316, https://doi.org/10.1210/clinem/dgaf017 Relevant Skeletal Dysplasia DNA Today Episodes: #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer #301 Dwarfism with Colleen Gioffreda #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders) #359 B

To recap the vibrant American College of Medical Genetics (ACMG) held in Baltimore, host Kira Dineen is joined by presenters to capture what they spoke about at the conference! We explore the latest advancements in whole genomic sequencing (WGS) including the integration of newer tools like optical genome mapping (OGM), long-read sequencing and RNA sequencing. Then we learn about how AI is helping to sift through all the data provided by WGS by prioritizing variants so genomic analysts can find the causative variant faster. We wrap up by talking about how all these tools can be ethically used to advance equity in genomic testing. Our episode is broken into three segments… Baylor Genetics’ announce their Enhanced Whole Genome Sequencing with their Chief Medical Officer and Chief Quality Officer, Dr. Christine Eng and their Chief Growth Officer Chris Sands Illumina teaches us about their variant interpretation software that utilizes AI with a staff product marketing manager, Talia Silver and a senior staff medical science liaison, Dr. Livia Loureiro Ambry Genetics discusses advancing equity in genomic testing with a Clinical Strategy Manager in Medical Affairs, Carrie Horton, and their Translational Genomics Director for Rare Diseases, Dr. Seth Berger Relevant Resources: Baylor Genetics Segment Resources: Baylor Genetics Announces Enhanced Whole Genome Sequencing Test Baylor Genetics’ Enhanced Whole Genome Sequencing Technologies AAP Guidelines: Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay Illumina Segment Resources: Genomewide Sequencing Ontario Project Illumina’s Emedgene variant interpretation software Illumina’s Grand Rounds in Genomic Medicine Genome Aggregation Database (gnomAD) Ambry Genetics Segment Resources: Ambry Genetics’ Patient for Life website and white paper Ambry Genetics’ Announcing Their One Millionth Test Leveraging RNA to Improve Diagnostic Accuracy and Yield Dr. Seth Berger’s publication last week on “Identification of de novo variants from parent-proband duos via long-read sequencing” in the American Journal of Human Genetics Ambry Genetics’ publication in January 2026 on “Ten years of exome sequencing and reanalysis among racial, ethnic, and ancestral groups: The importance of equitable reanalysis access” Relevant DNA Today Podcast Episode: #182 Eric Green on the Complete Human Genome Project #231 ChatGPT and AI In Genetics with Daniel Uribe #285 AI To Enhance Variant Curation with Daniel Uribe #297 Exome Reanalysis with Ambry Genetics #303 RNA Analysis with Ambry Genetics #325 Revolutionizing Variant Curation with MAVEs #334 ACMG 2025 Recap #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #384 Beyond DNA: How RNAseq Resolves VUS and Shortens the Diagnostic Odyssey Upcoming Conferences: In November, we will be back in Baltimore for the 2026 National Society of Genetic Counselors (NSGC) annual conference, but before that we have a few other conferences on the books. Check out our conference schedule so far for 2026… Advances in Genome Biology and Technology (AGBT) Precision Health in September in San Diego Podcast Movement in September in New York City American Society of Human Genetics (ASHG) in October in Montreal National Society of Genetic Counselors (NSGC) in November in Baltimore Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Except when a conference ends on a weekend ;) Until then, why not dive into our library of over 385 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Despite our podcast name, we’re going beyond DNA in this episode and into the next frontier of genetic diagnostics: RNA sequencing and multi-omics. While DNA sequencing often reveals variants of uncertain significance (VUS), RNA sequencing provides functional evidence that can resolve uncertainty, uncover splicing abnormalities, and ultimately shorten the diagnostic odyssey for patients with rare diseases. Joining for this in-person podcast episode is Dr. Christine Eng, Chief Medical Officer and Chief Quality Officer at Baylor Genetics, and Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Topics Covered in This Episode: RNAseq 101: What RNA sequencing is and how it complements DNA sequencing. Splicing Abnormalities: What RNAseq can reveal that DNA sequencing may miss. Clinical Impact: Real-world examples, including a case where RNAseq reclassified a VUS and changed patient care. Diagnostic Yield: How often Baylor Genetics sees clinical benefit from RNAseq. Workflow Questions: Should RNAseq be a reflex after WES/WGS fails to identify a pathogenic variant? Technical Realities: Key challenges including tissue type, RNA quality, and turnaround time. When Results Are Inconclusive: How to handle unexpected or unclear RNA findings. Beyond RNAseq: How multi-omics (including transcriptomics and metabolomics) are beginning to integrate into clinical practice. Implementation Barriers: Challenges to scaling multi-omic testing in routine labs. Future of Clinical Genomics: Dr. Eng’s predictions for RNAseq and multi-omics adoption over the next decade. Resources & Links: Learn more about Baylor Genetics here Baylor Genetics Webinar: From Symptoms to Sequencing: Diagnostic Insights from 3 Pediatric Genome Sequencing Cases AAP’s Genetic Evaluation of the Child With Intellectual Disability or Global Developmental Delay: Clinical Report Baylor Genetics Applauds New Guidance from American Academy of Pediatrics for Genome and Exome Sequencing to be used as First-Tier Tests for Children with Certain Developmental Delays Dr. Christine Eng’s Presentation “How Whole Genome Sequencing Can Lead to Early Diagnosis and Intervention” Zhao S, Macakova K, Sinson JC, Dai H, Rosenfeld J, Zapata GE, Li S, Ward PA, Wang C, Qu C, Maywald B; Undiagnosed Diseases Network; Lee B, Eng C, Liu P. Clinical validation of RNA sequencing for Mendelian disorder diagnostics. Am J Hum Genet. 2025 Apr 3;112(4):779-792. doi: 10.1016/j.ajhg.2025.02.006. Epub 2025 Mar 4. PMID: 40043707; PMCID: PMC12081282. Undiagnosed Disease Network Relevant DNA Today Podcast Episode: #358 AGBT Precision Health 2025 Meeting Recaps and Reflections Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

As Rare Disease Month comes to a close and Rare Disease Day approaches, we are turning our focus beyond the United States to explore what rare disease care looks like in Brazil, and how genomics is reshaping the diagnostic journey. In this episode, we take a deep dive into the rare disease landscape in Brazil, including how patients access genetic testing within a public healthcare system, the barriers families face compared to those in the U.S., and how whole genome sequencing (WGS) is accelerating diagnoses that once took years or even decades. Joining us is Dr. João Bosco de Oliveira Filho, a physician-scientist who helped lead Brazil’s national rare disease genomics initiative, Genomas Raros, and now continues this work through his laboratory, NeoGenomica. We’re also joined by Victor Camillo from MGI, who shares a global technology perspective on how large-scale sequencing efforts can expand access to rare disease diagnostics, especially in middle-income countries. Together, we discuss: How rare disease care in Brazil compares to the U.S. Why whole genome sequencing is a game changer for undiagnosed patients Lessons learned from national-scale genomics initiatives The role of public–private partnerships in sustaining innovation What the future holds for rare disease diagnostics worldwide Relevant Resources: MGI Tech MGI’s Sequencing Platforms NeoGenomica NeoGenomica implements the world's most powerful genetic test, focusing on accuracy and speed in diagnoses. 100,000 Genomes Project by Genomics England Coelho, A. V. C., Mascaro-Cordeiro, B., Lucon, D. R., Nóbrega, M. S., de Souza Reis, R., Bertollo de Alexandre, R., Moura, L. M. S., Oliveira, G. S., Guedes, R. L. M., Caraciolo, M. P., Zurro, N. B., Cervato, M. C., & Oliveira, J. B. (2022). The Brazilian Rare Genomes Project: Validation of Whole Genome Sequencing for Rare Diseases Diagnosis. Frontiers in Molecular Biosciences, 9, Article 821582. https://doi.org/10.3389/fmolb.2022.821582 Wojcik MH, Lemire G, Berger E, Zaki MS, Wissmann M, Win W, White SM, Weisburd B, Wieczorek D, Waddell LB, Verboon JM, VanNoy GE, Töpf A, Tan TY, Syrbe S, Strehlow V, Straub V, Stenton SL, Snow H, Singer-Berk M, Silver J, Shril S, Seaby EG, Schneider R, Sankaran VG, Sanchis-Juan A, Russell KA, Reinson K, Ravenscroft G, Radtke M, Popp D, Polster T, Platzer K, Pierce EA, Place EM, Pajusalu S, Pais L, Õunap K, Osei-Owusu I, Opperman H, Okur V, Oja KT, O'Leary M, O'Heir E, Morel CF, Merkenschlager A, Marchant RG, Mangilog BE, Madden JA, MacArthur D, Lovgren A, Lerner-Ellis JP, Lin J, Laing N, Hildebrandt F, Hentschel J, Groopman E, Goodrich J, Gleeson JG, Ghaoui R, Genetti CA, Gburek-Augustat J, Gazda HT, Ganesh VS, Ganapathi M, Gallacher L, Fu JM, Evangelista E, England E, Donkervoort S, DiTroia S, Cooper ST, Chung WK, Christodoulou J, Chao KR, Cato LD, Bujakowska KM, Bryen SJ, Brand H, Bönnemann CG, Beggs AH, Baxter SM, Bartolomaeus T, Agrawal PB, Talkowski M, Austin-Tse C, Abou Jamra R, Rehm HL, O'Donnell-Luria A. Genome Sequencing for Diagnosing Rare Diseases. N Engl J Med. 2024 Jun 6;390(21):1985-1997. doi: 10.1056/NEJMoa2314761. PMID: 38838312; PMCID: PMC11350637. Relevant DNA Today Podcast Episode: #285 AI To Enhance Variant Curation with Daniel Uribe #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel with MGI #379 Global Cancer Diagnostics: Building High-Quality Cancer Genomic Testing with MGI Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We are ecstatic to finally share that our host Kira Dineen is also hosting a brand new podcast that just launched, The Persistence Lab. This podcast, sponsored by AbbVie, pulls back the curtain on the hard, human work of health care innovation. Each episode dives into a real problem in medicine or health care and follows the people who are working to develop solutions. With immersive sound design and a three-act structure that puts story first, this series showcases the fresh thinking, bold ideas, and the unexpected paths that help turn optimism into outcomes. For U.S. audiences only. To celebrate the launch we are sharing the first episode with you here on DNA Today, but be sure you are following The Persistence Lab on your favorite podcast platform using this link! Don’t miss all the episodes this season! In this first episode of “The Persistence Lab,” we set out to answer, can we find cures faster? Our health and well-being impact every element of our lives. For patients with some of the most difficult-to-treat medical conditions, a cure is what they’re hoping for. How can we accelerate drug development to spur progress and turn bold ideas into real breakthroughs? The Persistence Lab launches with this episode to look at how AbbVie is empowering scientists to boldly rethink what it means to cure disease and accelerate care for patients. Please note that this episode is intended for U.S. audiences only. Episode Discussion Topics: The importance of clear definitions: functional vs. complete cures Why developing universal medical cures is incredibly complex The role of clinical trials in developing potential medical cures How AbbVie’s Pathway to Cures program fosters collaboration and innovation The transformative impact of precision medicine and reverse translation How AI, machine learning, and digital tools are helping scientists in the discovery and development of potential therapies The emotional and practical significance of potential medical cures for patients and scientists Relevant Resources: Listen to The Persistence Lab AbbVie: Pathway to Cures AbbVie: Can We Find Cures Faster Article AbbVie: AI & Data Convergence Don’t forget to follow The Persistence Lab on your favorite podcast platform using this link!

In celebration of Charles Darwin’s birthday on February 12th, we participated in Humanists and Freethinkers of Fairfield County’s (HFFC) of Connecticut’s Darwin Day event! HFFC brought together science nerds to learn about evolution. In this special live episode of DNA Today, we’re sharing highlights from HFFC’s 18th Annual Darwin Day Dinner in Connecticut, a celebration of curiosity, science, and scientists held the Saturday before Darwin’s birthday on February 12th. Our host Kira Dineen led a live fireside chat with the keynote speaker from the distinguished evolutionary biologist Dr. Johan Peter Gogarten. She also introduced Senator Richard Blumenthal who gave a speech about the importance of science now more than ever. Dr. Gogarten, a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut, is known for his groundbreaking work on the early evolution of life, horizontal gene transfer, and rooting the Tree of Life. His research has transformed how scientists understand microbial evolution and the complex genetic relationships that connect all living organisms. This episode captures select moments from the live Darwin Day program, where we explore how Charles Darwin’s famous concept of the “entangled bank” still shapes modern evolutionary biology, and where today’s science has gone far beyond what Darwin could have imagined. Together, Kira Dineen and Dr. J Peter Gogarten discuss what Darwin got right about natural selection, what modern genomics has revealed about rapid evolutionary change, and why horizontal gene transfer continues to reshape our understanding of how life evolves. The conversation also touches on real-world applications, from antibiotic resistance to emerging genetic technologies, and how curiosity drives scientific discovery across generations. The evening also featured reflections on the importance of science, humanism, and evidence-based thinking, highlighting the enduring relevance of Darwin’s ideas in today’s world. Topics Discussed In This Episode: An introduction to Darwin’s life, his voyage on the HMS Beagle, and the creation of On the Origin of Species Exploration of natural selection and Darwin’s enduring influence on modern biology How the understanding of genetics, from Mendel to genomics, expands Darwin’s theories The role of horizontal gene transfer in microbial evolution and its significance Highlights from Connecticut’s 2026 Darwin Day celebration Charles Darwin’s “entangled bank” and its relevance today What Darwin got right—and what modern science has updated Natural selection at the gene level vs. organism level Why evolution isn’t always gradual: rapid change and hybridization Horizontal vs. vertical gene transfer explained How viruses, bacteria, and other mechanisms move genes across species The role of horizontal gene transfer in microbial evolution Real-world implications for medicine, antibiotic resistance, and biotechnology How curiosity and early inspiration shape scientific careers The importance of science communication and public engagement About Our Guest: Dr. Johan Peter Gogarten is a Board of Trustees Distinguished Professor of Molecular and Cell Biology at the University of Connecticut. His research focuses on the early evolution of life, horizontal gene transfer, and selfish genetic elements. Dr. Gogarten is widely recognized for rooting the Tree of Life and for identifying horizontal gene transfer as a major force in microbial evolution. His work has been funded by the National Science Foundation, NASA’s Exobiology Program, and the Israel-U.S. Binational Science Foundation. He is a fellow of the American Academy of Microbiology and a member of the Connecticut Academy of Science and Engineering. About the Event: This episode was recorded live at HFFC's 18th Annual Darwin Day Dinner, held February 7th, 2026. The event celebrated Charles Darwin’s legacy through science, discussion, and community, featuring a keynote presentation by Dr. Johan Peter Gogarten on evolution within Darwin’s “tangled bank” and the complex genetic relationships that connect life on Earth. Please join us at next year’s event which will be held in February 2027 in Connecticut. Stay tuned for more details through the show, or directly on the Connecticut Darwin Day website. Relevant Resources: Gogarten Lab at The University of Connecticut Dr. Johann Peter Gogarten’s LinkedIn Page “Charles Darwin: History’s Most Famous Biologist” via Natural History Museum International Darwin Day Foundation The Connecticut Darwin Day website Event Host: Humanists and Freethinkers of Fairfield County (HFFC) in Connecticut HFFC’s Podcast, Humanism Today Relevant DNA Today Podcast Episode: #100 Carl Zimmer on Human Heredity #134 Dr. Kat Arney on Cancer Evolution #335 Neanderthals, Denisovans, and Us: How DNA Reveals Evolution Gene Pool Media: The Science Podcast Network: DNA Today and Humanism Today are shows on science podcast network Gene Pool Media. Than

To kick off Rare Disease Month we are thrilled to share the pilot of the newest podcast in our Gene Pool Media science podcast network, Rare Rebels. The Rare Rebels™ Podcast shares raw, unscripted conversations with patients, caregivers, researchers, and advocates who are changing the future of rare disease. Through these real voices, Rare Rebels builds understanding, inspires action, and drives change. The host Melody Joy Paine is a thought provoking and empathic interview. It is not surprising that she has won multiple awards for her storytelling and advocacy work. In this episode, a rare disease dad and advocate, Mark Dant, tells the story of his son, Ryan, being diagnosed with Mucopolysaccharidosis Type I, and the scientist Dr. Emil Kakkis whose persistence changed their lives. In This Episode: Mark Dant’s personal journey as a parent advocate after his son Ryan’s diagnosis with MPS I Being told “nothing can be done” and choosing to challenge that narrative Navigating rare disease advocacy before the internet, social media, or established drug development pathways Teaching himself medical and scientific concepts without formal training Early advocacy tactics: medical dictionaries, libraries, conferences, and cold outreach Building a nonprofit organization from the ground up to support research and families The fragmented healthcare and research system rare disease families faced in the 1990s The critical role of relationships in advancing rare disease research Mark’s partnership with physician-scientist Dr. Emil Kakkis and how trust fueled progress Bridging families, clinicians, and researchers to accelerate treatment development The path to developing the first treatment for MPS I How one family’s advocacy changed outcomes for future patients Parents as drivers of innovation in rare disease Persistence, collaboration, and problem-solving in the absence of clear systems Enduring lessons for today’s rare disease community and advocates Gene Pool Media: The Science Podcast Network: Rare Rebels is the newest show on science podcast network Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series Parálisis Cerebral Respuestas Humanism Today Gods and Genes If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email us directly at [email protected]. We’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network right here on DNA Today. Relevant Resources: Rare Rebels Website Rare Rebels on Spotify Rare Rebels on Apple Podcasts MedlinePlus’ Mucopolysaccharidosis type I (Hurler Syndrome) Page Genetic Rare Disease Information Center: Mucopolysaccharidosis Type 1 Page Gene Reviews’ Mucopolysaccharidosis Type I Page Dr. Emil Kakkis Developing Enzyme Replacement Therapy for MPS I The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) National Organization For Rare Disorders (NORD) EveryLife Foundation For Rare Diseases Relevant DNA Today Podcast Episode: #171 Farber Disease with Aceragen (also a lysosomal storage disorder) #292 TALEN® Gene Editing Technology with Cellectis (MPS type I Research) #372 Fighting for Time: Hunter Syndrome (MPS Type II), Gene Therapy & Urgent Advocacy #371 Growing Old Too Fast: A Mother’s Fight for Cockayne Syndrome Advocacy #376 Why Females with Fabry Disease Aren’t “Just Carriers” (Also a lysosomal storage disorder) #378 Why This Week’s NIH Funding Vote Matters for Rare Disease Patients Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 380 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

As we approach World Cancer Day on February 4th, this episode of DNA Today takes a global look at how cancer diagnostics are evolving, not just in research settings, but in real-world clinical laboratories where innovation must meet reliability, scalability, and patient impact. In this conversation, we bring together three experts from around the world working at the intersection of oncology diagnostics, sequencing technology, and clinical implementation. Joining us from Portugal is Dr. Jorge Lima of IPATIMUP, one of Europe’s leading oncology centers known for its research-driven diagnostic mission. From Italy, Bernard Okere joins us as a Field Application Scientist at MGI Tech, a company providing a full spectrum of sequencing platforms and automation solutions for life science and clinical laboratories worldwide. And from China, we’re joined by Nancy Yang, International Senior Business Development Manager at Gene+, a genetic testing and precision oncology company behind one of the largest oncology gene panels currently in clinical use. Together, we explore how IPATIMUP has implemented large-scale DNA and RNA sequencing, including Gene+’s 1,021-gene DNA panel and RNA sequencing, to expand diagnostic confidence while maintaining rigorous clinical standards. This episode dives into validation, automation, workflow design, and cross-company partnerships, offering a behind-the-scenes look at how modern oncology labs grow without compromising quality. In This Episode, We Discuss Setting the Stage: IPATIMUP’s Role in Oncology How IPATIMUP fits into Europe’s oncology landscape Why a research-driven approach is central to its diagnostic mission From Research to Routine Diagnostics Translating research findings into clinical workflows Balancing innovation with responsibility in patient-facing diagnostics Choosing the Right Technology Partner Why IPATIMUP selected MGI sequencing platforms What differentiates MGI’s technology in oncology applications The importance of flexibility across DNA and RNA testing Why long-term technical collaboration matters beyond installation Large Gene Panels in Clinical Practice How Gene+ selected the 1,021 genes included in its oncology panel Real-world experience using large DNA and RNA panels in routine diagnostics Why the Gene+ panel pairs effectively with MGI’s sequencing platforms What it takes to move from validation to clinical implementation RNA Sequencing as a Diagnostic Advantage How RNA sequencing complements DNA-based testing in oncology When RNA sequencing provides the most clinical value How RNA data can increase diagnostic confidence in complex cases Automation, Scale, and Quality Why automation is essential for high-throughput oncology labs Reducing hands-on time and minimizing human error Practical advice for labs looking to scale while maintaining consistency and quality Relevant Resources: IPATIMUP MGI Tech MGI’s Sequencing Platforms Gene+ (Website currently under construction) Relevant DNA Today Podcast Episode: #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle” #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel Connect With Us: Luckily you don’t have to wait long for a brand-new episode of DNA Today, we drop episodes every Friday! Until then, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past five years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

February 3rd, 2026 Update: The U.S. House of Representatives passed it! Now, the bill heads to the President’s desk, where we expect him to sign it into law. This means the NIH is scheduled to receive $48.7 billion in funding (a 1% or $415 million increase over 2025). Therefore the 40% budget cut of NIH was rejected, and instead there will be a 1% increase in funding (as long as the President signs it). January 30th, 2026 Update: Another wonderful update, the U.S. Senate passed legislation that advances top priorities for the rare disease community, including strong medical research funding for the National Institutes of Health (NIH) and across the federal government. The next step for the bill is to go back the U.S. House of Representatives for final passage. Urge your representatives to pass this legislation, MDA made it easy to do so here. January 24th, 2026 Update: Great news, the House of Representatives passed legislation providing strong funding for medical research at the National Institutes of Health (NIH). The next step is for the Senate to pass this legislation, the vote is scheduled for the week of January 26th. Urge your senators to pass this legislation, MDA made it easy to do so here. Our host Kira Dineen already reached out to her congressmen in Connecticut, Senators Chris Murphy and Richard Blumenthal, to support the vote scheduled to happen the week of January 26th, 2026. After you reach out to your senators, post it on social, and tag us (@DNATodayPodcast) and MDA (@mdaorg) so we can repost you! ------------------------------------------------------------------------------ What happens to rare disease families when federal research funding slows down, or gets cut? In this breaking news, bonus episode of DNA Today, we’re digging into what NIH funding cuts mean in real terms: delayed clinical trials, fewer research dollars for ultra-rare conditions, and a slower path from discovery to treatment. We’re joined by Paul Melmeyer, who serves as the Executive Vice President, Public Policy and Advocacy, at the Muscular Dystrophy Association (MDA). In this role, Paul leads MDA’s policy and advocacy initiatives pertaining to public health, therapeutic development, access to care, and disabilities. Prior to joining MDA, Paul spent over six years with the National Organization for Rare Disorders (NORD). At NORD, Paul led the Federal policy operations in developing and advocating for the enactment and implementation of pro-rare disease patient policy. Paul also holds a Master of Public Policy (MPP) from the George Washington University. We unpack what’s happening in Washington DC in late January 2026, what it could mean for neuromuscular disease research, and more generally the rare disease community, and what we can do about it. In This Episode, We Discuss What’s Actually Happening With NIH Funding Why the phrase “NIH cuts” understates the real-world impact on patients and families What proposed reductions for Fiscal Year 2026 could mean for rare disease research How grant freezes, terminations, and delayed renewals disrupt active studies and clinical trials Why Rare Disease Research Is Especially at Risk Why rare disease programs are more sensitive to funding instability than common conditions The difference between slowed progress and permanent loss for progressive neuromuscular diseases How NIH funding supports the entire pipeline—from basic science and natural history studies to biomarkers and trials What happens when labs lose funding: loss of expertise, momentum, and institutional knowledge Neuromuscular Disease Research in 2026 Where neuromuscular research stands today and what breakthroughs are closest to patients Which types of studies are most vulnerable to funding cuts How NIH investment influences industry confidence and pharmaceutical partnerships in ultra-rare diseases Policy Realities & Misconceptions How to explain to policymakers that cutting research now increases long-term healthcare costs later Common misconceptions about NIH funding and why rare disease research can’t simply “pause and restart” Advocacy: What You Can Do Right Now The most effective actions for advocates engaging Capitol Hill today What makes a patient or family story resonate with lawmakers and staffers How collective advocacy protects not just future discoveries, but lives happening right now Relevant Resources: Click here to urge you senators to pass legislation this week to support the NIH (mda.org/supportNIH). The bill now moves to the Senate for consideration the week of January 26th, 2026. MDA Advocacy Landing Page MDA Advocacy Action Center Donate to MDA MDA's X Page MDA's Instagram Page Request MDA Services We Work For Health Relevant DNA Today Podcast Episode: #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #327 How Patient Advocacy is Changing Rare Disease Research #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases #363 ASHG 2025

What happens when a loved one is trying to age at home, their memory is changing, and their medications suddenly start causing more harm than help? In this episode of DNA Today, we’re talking about aging in place, memory care, and an often-overlooked piece of the puzzle, how someone’s genetics can affect the way they respond to medications later in life. Our guest is Michele Magner, a Certified Dementia Practitioner, caregiver advocate, and educator who works closely with families navigating dementia, chronic illness, and the emotional realities of caregiving. With deep experience in senior living, gerontology, and family coaching, Michele helps people prepare not just for what’s happening now, but for what comes next. We’ll explore how pharmacogenomics fits into home-based elder care, why medication reactions are so common in older adults, and how caregivers can better advocate for safer, more personalized care. On This Episode We Discuss: Aging in Place & Memory Care What families are most concerned about when trying to keep a loved one at home How memory-related illnesses change caregiving compared to physical limitations alone Common misconceptions about the progression of cognitive decline What “successful aging in place” realistically looks like Medication Challenges in Older Adults Why polypharmacy is so common—and so risky—in later life How medications that once worked well can become problematic over time Real-world examples of unexpected medication reactions in individuals with memory changes Why older adults are especially vulnerable to side effects, particularly with cognitive impairment Pharmacogenomics, Explained for Caregivers What pharmacogenomics (PGX) is and how to explain it to families in practical terms Why genetic-informed prescribing can become relevant later in life, even if medications were previously tolerated How PGX may help prevent medication-related crises before they happen PGX in Home-Based Memory Care How pharmacogenomics could reshape medication decisions for dementia care Medication categories that often raise red flags in older adults How genetic insights may help protect individuals who can’t clearly report side effects Advocacy, Access & System Gaps Barriers families face when trying to access PGX-informed care How caregivers can request medication reviews without feeling confrontational Where healthcare systems often fall short of the realities families manage at home Looking Ahead What it would mean to routinely integrate pharmacogenomics into elder care Michele’s key message for caregivers navigating medications, memory care, and aging in place Our Guest: Michele Magner has a passion for connecting with people as we navigate the adventures of aging and caregiving! As an experienced family caregiver, with many years in the Senior Living industry, she understands the challenges we are facing as we age and care for those we love. Michele sets people up for success so they are inspired to thrive, not just survive, this one big, beautiful, and complicated life. Michele has earned her M.B.A., Masters Certification in Gerontology and is a Gerontology Ph.D. student at UNO. She is a Certified Life Coach, Certified Dementia Practitioner, and Certified Conscious Aging facilitator. Michele is an Adjunct Professor at Creighton University, teaching Long Term Care Administration. She serves on 2 Board of Directors, the Alzheimer’s Association NE Chapter and The Bloc. Inc. Michele also contributes to the Dreamweaver Foundation, making wishes for people in senior living come true. She continues to share fresh content and ideas through her Inspired Caring podcast and programs, in addition to private and group coaching. Relevant Resources: Need Health? UChicago News: Women are overmedicated because drug dosage trials are done on men, study finds ClinPGx Sequence2Script The PREPARE Study Table of Pharmacogenomic Biomarkers in Drug Labeling The Clinical Pharmacogenetics Implementation Consortium (CPIC®) Relevant Papers: Roncato R, Bignucolo A, Peruzzi E, Montico M, De Mattia E, Foltran L, Guardascione M, D'Andrea M, Favaretto A, Puglisi F, Swen JJ, Guchelaar HJ, Toffoli G, Cecchin E. Clinical Benefits and Utility of Pretherapeutic DPYD and UGT1A1 Testing in Gastrointestinal Cancer: A Secondary Analysis of the PREPARE Randomized Clinical Trial. JAMA Netw Open. 2024 Dec 2;7(12):e2449441. doi: 10.1001/jamanetworkopen.2024.49441. PMID: 39641926; PMCID: PMC11624585. van Marum RJ. Underrepresentation of the elderly in clinical trials, time for action. Br J Clin Pharmacol. 2020 Oct;86(10):2014-2016. doi: 10.1111/bcp.14539. Epub 2020 Sep 9. PMID: 32909294; PMCID: PMC7495271. Zucker I, Prendergast BJ. Sex differences in pharmacokinetics predict adverse drug reactions in women. Biol Sex Differ. 2020 Jun 5;11(1):32. doi: 10.1186/s13293-020-00308-5. PMID: 32503637; PMCID: PMC7275616. Relevant DNA Today Podcast Episode: #108 Dr. Becky Winslow on Pharmacogenomics #174 Pharmacogenomics with Ful

What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders. Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families. We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals. Topics Covered in This Episode What Fabry disease is and how it affects the body. The impact of Fabry’s X-linked inheritance on clinical presentation. Why the term “just a carrier” is misleading for females or people with two X chromosomes. Variability in disease expression among females and key clinical cases. Classic vs. later-onset Fabry phenotypes and diagnostic challenges. Common signs and symptoms that often go unrecognized. Barriers leading to delayed diagnosis and under-recognition. Benefits of early detection and cascade family screening. Managing variants of uncertain significance (VUS) in the GLA gene. Limits of genotype–phenotype correlations in Fabry disease. Psychosocial challenges for families living with a Fabry diagnosis. Advice for clinicians and genetic counselors evaluating potential Fabry patients. Resources & Links The brand new website, FindingFabry.com has additional information and resources. Amicus’ website here also has information about Fabry disease. Patients’ stories about living with Fabry disease. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What drives scientific discovery, and how do those discoveries evolve into treatments that transform lives? In this in-person episode of DNA Today, we’re exploring the human side of science: the curiosity, collaboration, and persistence that fuel discovery. This episode is part of a special partnership with The Advanced Portfolio from Wiley, a collection of world-leading scientific journals bridging disciplines to accelerate progress in biology, genetics, and medicine. We’re joined by two guests whose careers beautifully reflect the bridge between innovation and impact: Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Topics Covered In This Episode: The stories behind scientific breakthroughs and what fuels discovery How collaboration across disciplines accelerates innovation Translating genetic discoveries into real-world therapies The role of publishing and open science in driving progress How journals are adapting to promote transparency and reproducibility Advice for early-career researchers balancing ambition with sustainability The evolving landscape of global collaboration in science How AI and automation are transforming both research and publishing The ethics and equity considerations of AI-driven science The importance of representation and global voices in genomics Key Takeaways True innovation thrives on collaboration—across labs, disciplines, and continents. Publishing isn’t the end of science; it’s a catalyst for connection and progress. Bridging basic discovery to clinical application requires persistence and shared purpose. Transparency, communication, and mentorship are essential to the next wave of breakthroughs. Relevant Resources: Wiley Advanced Portfolio Wiley’s Journal Finder Genetics and Genomics: Advanced Science Collection Precision medicine: From new tools to innovative applications: Advanced Portfolio Cross-journal Collections Wiley's AI guidelines for Authors Wiley’s ExplanAItions 2025: The evolution of AI in research What Makes a Successful Submission Wiley Blog Post Eligibility for access to Research4Life Wiley Announce Team of Editors to Lead Advanced Portfolio Journals Expansion into Life Health Sciences Wiley Expands Advanced Journal Portfolio into Life and Health Sciences Deepens Physical Science Offering Relevant DNA Today Podcast Episode: #337 How to Get Your Research Published: Insight from Wiley’s Advanced Portfolio Journal Editors #345 How To Talk About DNA Without Losing People: Strategies Part 1 #350 How To Talk About DNA Without Losing People: Strategies Part 2 #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding (Drs. Bhoj and Hu were also guests) Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 375 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What if we looked at genetic testing not just as a tool, but as a story unfolding through eras of innovation, access, and personal meaning? To explore the genetic testing landscape over the last couple decades we are joined by a fellow podcaster Rome Madison, who is also a precision medicine expert and longtime industry leader with extensive experience working in diagnostics and precision medicine. Rome has trained sales teams, helped launch groundbreaking cancer diagnostics, and now hosts Genetics for Healthcare: A Podcast for Patients. He’s here to share not only how genetic testing has evolved across different eras, but also his personal connection to the field and why he’s committed to ensuring patients benefit from the genomic revolution. On This Episode, We Discuss: Setting the Stage: Rome’s Personal Journey How Rome entered the genetics and diagnostics space shortly after the Human Genome Project What motivates his continued work at the intersection of innovation, patients, and access Why confidence, curiosity, and communication matter in fast-changing scientific fields The Early Era: Post–Human Genome Project What diagnostics felt like in the early 2000s Early pharmacogenomics and predicting chemotherapy response Barriers to adoption, including cost, infrastructure, and skepticism The Growth Era: Expansion of Genetic Testing How cancer diagnostics and precision medicine began shaping standard care Shifts in how clinicians and patients talked about risk and prevention Lessons learned about equity, access, and unmet expectations The Current Era: Precision Medicine Goes Mainstream What distinguishes today’s genetic testing landscape from earlier eras Ongoing challenges around affordability, access, and education The role of podcasts and science communication in empowering patients Looking Ahead: The Next Era of Genetic Testing What might define the next wave: RNA, epigenomics, microbiome, multi-omics Where AI and advanced data analytics fit into future care models Why collaboration across pharma, diagnostics, advocacy groups, and patients is essential Whether population-wide genetic testing could become routine in the years ahead About the Guest Rome Madison helps people and organizations in the life science industry increase confidence, embrace uncertainty and navigate chaos to rise and win in the market. With over 20 years of experience leading sales teams and go-to market strategy for successful start-ups and new products, Rome has Unreasonable Confidence that cancer and other chronic genetic diseases can be prevented, detected early, treated effectively and cured. Rome has given more than 500 live speeches and is a charismatic virtual presenter that keeps your audience glued to the screen and engaged with his content. He has appeared on more than 50 TV and radio shows across the US as a precision medicine expert, and has been a featured speaker at the Consumer Electronics Show on The Future of Healthcare. Rome’s podcast, Genetics for Healthcare: A Podcast for Patients, unites major healthcare stakeholders to close the gap of innovation and patient access to precision medicine. He is co-creator and host of the award-winning Precision Medicine Podcast, Google’s #1 rated podcast on the topic of next-generation cancer care, with listeners in over 108 countries. Relevant Resources: Genetics for Healthcare Podcast Hosted by Rome Madison American Lung Association; EGFR and Lung Cancer Breast Cancer Research Foundation; HER2-Positive Breast Cancer: Testing, Treatment, Research Fierce Biotech; Labcorp picks up Invitae portfolio for $239M in bankruptcy sale The Guardian; 23andMe’s founder wins bid to regain control of bankrupt DNA testing firm National Comprehensive Cancer Network Guidelines The Patient Will See You Now Book by Dr. Eric Topol (Kira was right, it was published 10 years ago!) Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics #182 Eric Green on the Complete Human Genome Project #358 AGBT Precision Health 2025 Meeting Recaps and Reflections #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice #362 Optical Genome Mapping: Detecting Structural Variants Missed by Traditional Tests #363 ASHG 2025 Recap: AI Diagnostics, Genetics Publications & Losing NIH Funding #364 Breast Cancer Genetic Testing in Italy: A Curated Gene Panel #370 Genetics Wrapped: 2025 Top Advances in Genomic Medicine Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted

This is our sixth installment in our Mock Genetic Counseling Session Series! In this episode, genetic counselor Charlotte Close and student Marcely Ventura perform a mock genetic counseling session. The session indication is an abnormal newborn screening result for cystic fibrosis. This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. The Actors: Marcely Ventura (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Ventura is a graduate of Hunter College with a B.A. in Human Biology. Ventura is the first recipient of the Lauren Ryan Genetic Counselor Access Memorial Award. This award celebrates Lauren Ryan’s legacy of advancing equity in genetic counseling and supports students from underrepresented communities. As a first-generation Hispanic college graduate, she is passionate about increasing access to genetic counseling for diverse communities and addressing health disparities. The premise of this mock case was part of her internship with DNA Today. Charlotte Close, MS, CGC (she/her) is a certified genetic counselor in the Division of Clinical Genetics at Columbia University Irving Medical Center (CUIMC) and a member of the multidisciplinary cystic fibrosis care team at CUIMC. She is passionate about improving access to genetic counseling services and has worked with the Cystic Fibrosis Foundation, other cystic fibrosis genetic counselors, and cystic fibrosis care team members from across the country to achieve this goal through policy changes, service delivery innovation, and educational efforts. In addition to her clinical work, Close contributes to the Graduate Program in Genetic Counseling at Columbia University by supervising students, mentoring research projects, and serving as a course director. She also serves as a Director on the New York State Genetics Taskforce. She received her Bachelor of Science in Microbiology from the University of Michigan and her Master of Science in Human Genetics from Sarah Lawrence College. Mock Session Information: Session Indication: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. The patient’s mother, Mary, is attending the appointment. Case Details: The patient is a 10 week old male with a positive newborn screen for cystic fibrosis who was referred to the genetics center by his pediatrician for further evaluation and discussion of genetic testing. Patient Name: Liam Ventura Parent Names: Mary and Sam Ventura Medical History: Pregnancy: Uncomplicated Full term (39 wks) via NSVD No exposures or complications reported Normal prenatal ultrasounds Newborn Screening: Elevated immunoreactive trypsinogen (IRT) Two CFTR variants identified on screening panel Development: Appropriate for age Growth: Slightly below weight percentile Symptoms: Mild cough, parents believe it’s due to the change of weather Specialists Seen: Pediatrician only so far Medications/Treatments: None currently Therapies: None currently Family History: Ancestry: Dad- Irish Mom- Af. American No consanguinity, birth defects, or known genetic conditions No history of cystic fibrosis or early infant deaths One paternal cousin with male infertility Prior Carrier Results: Dad- F508del Carrier Mom- Negative …. After first visit with Multidisciplinary team following variant is identified: c.1675G>A p.A559T Pediatric Mock Session Outline Contracting Greetings and introductions Reason for referral to genetic counseling (positive newborn screening for CF) Overview of session and what will be discussed: “I’m going to ask a lot of questions about when Liam was in your belly, up until now, as well as medical and family history questions just to make sure we have a full picture and aren’t missing anything. After that Dr.X will come in and do a physical/sweat test on Liam and we can talk about genetic testing options, how does that sound/any questions before we get started?” Address patient questions or concerns such as: “What does this mean for our baby?” “Does this mean he has cystic fibrosis?” “Could this happen again in another pregnancy?” “Did we do something to cause this?” Medical Intake Review pregnancy and delivery history Review newborn history Review of systems with focus on: Respiratory symptoms Digestive symptoms and growth patterns Frequency of infections Developmental milestones and any delays noted by parents Medic

What do you do when your family is faced with a rare disease that has no cure, and every day truly matters? In this episode of DNA Today, we focus on Hunter syndrome (MPS II), a rare, progressive genetic condition that primarily affects children and leads to serious physical, neurological, and developmental challenges over time. Our guest is Kristin McKay, Executive Director of Project Alive, a nonprofit organization dedicated to accelerating treatments, expanding access to care, and supporting families impacted by Hunter syndrome. Kristin’s advocacy is deeply personal: she lost her brother, Zachary, to Hunter syndrome, and today her son, Charlie, is living with the condition. Kristin joins us to share what Hunter syndrome is, how it progresses, and how her family’s journey shaped her leadership and advocacy. We discuss the urgent need for effective treatments, the promise and uncertainty surrounding emerging gene therapies, and what families experience when regulatory delays impact a disease where time is not a luxury. This conversation highlights both the science behind Hunter syndrome and the human cost of delay, along with the resilience of a community that continues to push forward fueled by hope. On This Episode, We Discuss: Understanding Hunter Syndrome (MPS II) What it means to have a metabolic disorder and how MPS II affects the body Common symptoms and how the disease progresses over time The variability in presentation and severity among individuals A Family’s Journey Through Hunter Syndrome Kristin’s experiences growing up with a brother affected by Hunter syndrome Losing Zachary and later receiving the diagnosis for her son, Charlie How these experiences shaped her perspective as both a parent and an advocate Project Alive: Mission, Growth & Impact The origins and mission of Project Alive Key initiatives supporting research, families, and advocacy How the organization balances funding science, supporting families, and influencing policy Gene Therapy & the RGX-121 Delay Why RGX-121 is considered a promising potential one-time gene therapy for Hunter syndrome What the FDA’s Prescription Drug User Fee Act (PDUFA) date extension means for patients and families The emotional and practical impact of regulatory delays in ultra-rare diseases What changes could help expedite review processes for rare disease therapies Advocacy, Equity & Access How Project Alive amplifies the voices of a small but urgent patient community Strategies for engaging policymakers and industry partners Lessons the broader rare disease field can learn from this advocacy model Looking Ahead & How You Can Help What listeners can do to support Project Alive Opportunities for advocacy, awareness-building, and community engagement Relevant Resources: Project Alive MedlinePlus’ Mucopolysaccharidosis type II (Hunter syndrome) Page The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) Royalty pens $275M financing deal for Denali drug awaiting delayed FDA decision FDA pushes back PDUFA date for Regenxbio's Hunter syndrome gene therapy JCR Pharmaceuticals Announces the Achievement of Enrollment in the JR-141 Global Phase III Clinical Trial A Phase III Study of JR-141 in Patients With Mucopolysaccharidosis II (STARLIGHT) FDA News Release: FDA Advances Rare Disease Drug Development with New Evidence Principles Morimoto H, Morioka H, Imakiire A, Yamamoto R, Hirato T, Sonoda H, Minami K. Dose-dependent effects of a brain-penetrating iduronate-2-sulfatase on neurobehavioral impairments in mucopolysaccharidosis II mice. Mol Ther Methods Clin Dev. 2022 May 10;25:534-544. doi: 10.1016/j.omtm.2022.05.002. PMID: 35662814; PMCID: PMC9142692. The Precision Medicine Initiative launched by President Obama It Happened To Me Podcast Episode #16 ALS with Brook Eby (Kira referred to this being a DNA Today episode, she misremembered doing an episode drop on DNA Today, but maybe that means we should in the future) National Organization For Rare Disorders (NORD) EveryLife Foundation For Rare Diseases STAT News: 1 in 10 Americans have a rare disease, but few have treatments Cystic Fibrosis Foundation’s Venture Philanthropy Model Kim, Esther and Lo, Andrew W., Venture Philanthropy: A Case Study of the Cystic Fibrosis Foundation (April 23, 2019). Available at SSRN: https://ssrn.com/abstract=3376673 or http://dx.doi.org/10.2139/ssrn.3376673 Denali Therapeutics Drug Pipelines (including MPSII) Researchers estimated that 42% of Americans over age 55 will eventually develop dementia. NIH research (lead by Dr. Francis Collins) leads to first FDA-approved treatment for progeria Relevant DNA Today Podcast Episode: #147 CF Series: Bijal Trivedi on "Breath From Salt" #149 CF Series: Gunnar Esiason on Patient Advocacy #288 CRISPR Cured Victoria Gray’s Sickle Cell: Part 1 #289 CRISPR Cured Victoria Gray’s Sickle Cell: Part 2 #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #32

In this special episode recorded live at the New England Regional Genetics Group (NERGG) conference, we sit down with Geana Dyer, BS, RN, Founder of the Cockayne Syndrome Foundation and mother to 5-year-old Ronin, who lives with Cockayne Syndrome (CS). Geana shares her family’s personal journey from diagnosis to advocacy, offering a raw, insightful look at parenting through uncertainty while building a global support community for families affected by this ultra-rare condition. Geana presented at NERGG alongside her son’s geneticist, Katherine Anderson, MD, from the University of Vermont Medical Center. Together, they highlighted current research, care strategies, and the lived experiences behind Cockayne Syndrome, a condition still deeply misunderstood and vastly under-recognized. On This Episode We Discuss: Parenting a Child with Cockayne Syndrome: Lack of carrier screening during IVF. Genetic aspects and impact on DNA repair. Different types of Cockayne Syndrome and their symptoms. Tailored Care for Ronan: Importance of specific growth charts and dietary considerations. Role of a supportive community and foundation efforts. Overlap with Other Disorders: Similarities with other DNA repair disorders. Importance of awareness and advocacy. Support and Encouragement: Message to families and caregivers about community support. Emphasis on shared experiences and advocacy. Relevant Resources: Cockayne Syndrome Foundation TikTok: @HopeForCS Instagram: @HopeForCS Facebook Cockayne Syndrome Page on MedlinePlus Trichothiodystrophy (TTD) on MedlinePlus Cockayne Syndrome: A Manual for Healthcare Providers Cockayne Syndrome: A Manual for Parents and Caregivers Growth Chart: Cockayne Syndrome Type 1 and Type 2 The National Initiative for Cockayne Syndrome (NICS) Amy and Friends MRI Lego Set Midnight Sun (Kira mentioned this movie with Bella Thorn depicting Xeroderma Pigmentosum) Rajamani G, Stafki SA, Daugherty AL, Mantyh WG, Littel HR, Bruels CC, Pacak CA, Robbins PD, Niedernhofer LJ, Abiona A, Giunti P, Mohammed S, Laugel V, Kang PB. Cognitive Decline and Other Late-Stage Neurologic Complications in Cockayne Syndrome. Neurol Clin Pract. 2024 Aug;14(4):e200309. doi: 10.1212/CPJ.0000000000200309. Epub 2024 May 16. PMID: 38808024; PMCID: PMC11129329. Relevant DNA Today Podcast Episode: #39 Sun Kissed & Kardashian's Genetic Testing (Xeroderma Pigmentosum) #327 How Patient Advocacy is Changing Rare Disease Research #332 Building Stronger Rare Disease Organizations: NORD CEO’s Insight #356 From Statehouse to Capitol Hill: A Guide to Effective Advocacy for Rare Diseases Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 370 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

To celebrate the year coming to an end, we are reflecting back on the top genetics and genomics news stories during 2025, and making predictions for 2026. The top stories we chatted about are from the American Journal of Human Genetics’ “Genomic medicine year in review: 2025” paper. Joining me for this discussion are two leaders in genomics: Drs. Sarah Tishkoff and Eric Green. In this reflective conversation, Kira Dineen, Dr. Sarah Tishkoff, and Dr. Eric Green discuss the significant developments in genetics and genomics over the past year, including the recent American Society of Human Genetics (ASHG) conference and NIH grant cuts. Top 2025 Papers With Genomic Medicine Advancements Gene Therapy CRISPR base editing delivered repeatedly by lipid nanoparticles is effective and safe Utility of a high-activity variant in gene therapy for hemophilia B Promising phase 2 trial of CRISPR-based therapy for hereditary angioedema Oral pre-mRNA modifiers improve outcomes in presymptomatic spinal muscular atrophy Sequencing Long-range genome sequencing enhances rare disease variant detection Long-read genome sequencing identifies diagnostic variants Exome sequencing in critical illness is useful in adults as well as children Other Utility of pharmacogenomics in chemotherapy for GI cancers Polygenic risk score disclosure reduces adverse cardiovascular events Preimplantation genetic testing reduces risk of mtDNA diseases The Guests: Sarah Tishkoff is the David and Lyn Silfen University Professor in Genetics and Biology at the University of Pennsylvania, holding appointments in the Perelman School of Medicine and the School of Arts and Sciences. She is also the Director of the Penn Center for Global Genomics & Health Equity in the Perelman School of Medicine. Dr. Tishkoff studies genomic and phenotypic variation in ethnically diverse Africans. Her research combines field work, laboratory research, and computational methods to examine African population history, the genetic basis of anthropometric, cardiovascular, metabolic, and immune related traits, and how humans have adapted to diverse environments and diets. She plays an active role as an advocate for the inclusion of global populations in human genetics and genomics research. Dr. Tishkoff is a member of the National Academy of Sciences, the National Academy of Medicine and the American Academy of Arts and Sciences. She is a recipient of an NIH Pioneer Award, a David and Lucile Packard Career Award, a Burroughs/Wellcome Fund Career Award, the ASHG Curt Stern Award, the Wilbur Cross medal from Yale, the Vanderbilt Prize in biomedical sciences and a Penn Integrates Knowledge (PIK) endowed chair. She is President of the American Society of Human Genetics, is on the Scientific Advisory Board for the Packard Fellowships in Science and Engineering and is on the editorial boards at Cell and PLOS Genetics. Eric D. Green, M.D., Ph.D., served as the director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH) from 2009 to 2025. He was the third NHGRI director, having been appointed by then-NIH director Dr. Francis Collins in 2009. 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. Throughout his career, Dr. Green has authored and co-authored over 390 scientific publications. As NHGRI director, Dr. Green led the Institute's research programs and other initiatives. Under his guidance, the Institute has completed two major cycles of strategic planning to ensure that its research investments in genomics effectively advance human health. The first effort yielded the highly cited 2011 NHGRI strategic vision, “Charting a course for genomic medicine from base pairs to bedside” (Nature 470:204-213, 2011); the second yielded the 2020 paper ”Strategic vision for improving human health at The Forefront of Genomics” (Nature 586:683-692, 2020). With the rapidly expanding scope of genomics research, Dr. Green has also led NHGRI’s close coordination with other components of NIH, agencies and organizations. Dr. Green has played an instrumental leadership role in developing many high-profile efforts relevant to genomics. These efforts include multiple NIH Common Fund Programs — such as the Undiagnosed Diseases Network, Human Heredity and Health in Africa (H3Africa), and the Human Microbiome Project — the Smithsonian-NHGRI exhibition Genome: Unlocking Life's Code, several trans-NIH data science initiatives, the NIH Genomic Data Sharing Policy and the NIH All of Us Research Program. 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

What would you do if you had millions of dollars in funding to transform the future of genetic counseling? Few in our field have successfully taken on that challenge, and Dr. Kathleen Valverde is one of them; she has secured two groundbreaking grants totaling almost $20 MILLION. We sat down with her in-person for this episode to hear her advice on acquiring grant funding and the profound impact it can have on advancing our profession. Episode Topics Discussed: Kathy's Motivation and Background Kathy's role as a program director and her journey in genetic counseling. The importance of scholarships and funding for diverse backgrounds. Grant Funding and Impact Details of the grants from the Warren Alpert Foundation. The impact of these grants on genetic counseling education and diversity. Challenges in Genetic Counseling Discussion on the barriers to funding and access in genetic counseling. Kathy's personal experiences and commitment to overcoming these challenges. Mentorship and Networking The role of mentorship and networking in Kathy's success. Advice on starting with small grants and building a track record. Programs Supported by Grants Overview of the Alliance for Genetic Counseling and Career Ladder Education Program. Benefits provided to students, including tuition, health insurance, and stipends. Educational Opportunities and Continuing Education The importance of continuing education for genetic counselors. Details of the Advanced Research Training Certificate Program. Long-term Effects and Measuring Success Metrics and outcomes of the grant programs. Success stories and the impact on students' careers. Advice for Aspiring Grant Recipients Kathy's advice on grant writing and overcoming imposter syndrome. The importance of perseverance and community support. Future of Genetic Counseling Kathy's vision for the future of genetic counseling. The need for continued education and support in the field. The Guest: Kathleen Valverde, PhD, MS, LCGC is an Assistant Professor at the University of Pennsylvania’s Perelman School of Medicine and one of the most influential leaders in genetic counseling education. She is the principal investigator of two major Warren Alpert Foundation grants — the Alliance for Genetic Counseling (AID-GC) and the Career Ladder Education Program for Genetic Counselors (CLEP-GC) — totaling nearly $20 million to expand diversity, access, and research training in the field. Across her 40-year career, she has trained nearly 400 genetic counselors, served in key leadership roles for national organizations including ACGC, and helped establish genetic counseling licensure in Pennsylvania. A BRCA-positive family member herself, Dr. Valverde brings both professional expertise and lived experience to her mission of strengthening the genetic counseling workforce and advancing patient care. Relevant Resources: Grant Superhero: Kathleen Valverde, PhD, LCGC Dr. Kathleen Valverde’s PubMed Articles Warren Alpert Foundation The Warren Alpert Foundation Career Ladder Education Program - The Advanced Research Training Certificate Program for Genetic Counselors (or ART-GC) Alliance for Genetic Counseling Fellowship Audrey Heimler Special Projects Award (AHSPA) Jane Engelberg Memorial Fellowship (JEMF) The Basser Center for BRCA PhenoTips Speaker Series Live Podcast Episode: Proving Profitability in Genomics with Dr. Eric Green, Brian Reys, Marianne Olson, and Dr. Colleen Campbell Relevant DNA Today Podcast Episodes: #25 Interview with Cancer Hereditary Experts (with Ellen Matloff) #91 Ellen Matloff on Direct-To-Consumer Genetic Testing #136 Linda Robinson on the History of Genetic Counseling #234 Genetic Counseling History: 1st NSGC Conference #235 Genetic Counseling History: ABGC Formation #244 Genetic Counseling History: The 70s #319 New CPT Code 96041 Explained: 2025 Billing for Genetic Counselors #361 The Economics of Genetic Counseling: Policy, Industry & Career Advice (with Ellen Matloff) Connect With Us: Get ready, genetic nerds, another brand-new episode of DNA Today drops this Friday! While you wait, why not dive into our backlog of over 365 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This is our fifth installment in our Mock Genetic Counseling Session Series! In this episode, prenatal genetic counselor Brittany Gancarz and student Victoria Russo perform a mock genetic counseling session. The session indication is an abnormal ultrasound finding of an increased nuchal translucency. This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. The Actors: Victoria Russo (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Russo is a graduate of Northeastern University with a B.S. in Cell/Cellular and Molecular Biology. The premise of this mock case was Russo’s work as part of her internship with DNA Today. Brittany Gancarz, MS, LCGC (she/her) practices as the lead prenatal genetic counselor at UConn Health, where she sees patients for a wide variety of pregnancy and preconception indications. She enjoys working as part of the healthcare team with many other skilled professionals in the Maternal Fetal Medicine department. Gancarz’s genetic counseling interests include prenatal diagnosis, cell-free DNA testing, carrier screening, ultrasound anomalies, preimplantation genetic diagnosis, and perinatal palliative care. Gancarz is on the Board of Directors for the Connecticut Genetic Counselor Association. She was awarded Bay Path University's Genetic Counseling Program’s Outstanding Clinical Supervisor of the Year. Brittany graduated from Colby College in 2010 with a Bachelor of Arts, majoring in Biology and minoring Creative Writing, and completed her master’s degree in Human Genetics at the Joan H. Marks Program in Human Genetics at Sarah Lawrence College. Mock Cardiac Genetic Counseling Session Outline Session Indication: The patient is Kylie who is a 29 year old female who is experiencing her first pregnancy (G1P0). She is currently 13 weeks gestation and on her last ultrasound had an increased nuchal translucency measurement (3.7 mm), so her OB/GYN referred her to a genetic counselor. Contracting Brittany introduces herself as the genetic counselor and confirms the referral reason. The patient, Kylie, shares her understanding of the ultrasound findings and her lack of knowledge about genetic counseling. Explanation of Ultrasound Findings Discussion of the nuchal translucency (NT) measurement and its implications. Explanation of the potential genetic conditions associated with increased NT. Screening and Testing Options Overview of non-invasive prenatal testing (NIPT) and its capabilities. Discussion of diagnostic testing options: CVS and amniocentesis, including their procedures, risks, and timing. Family History and Genetic Concerns Exploration of family history for genetic conditions or concerns. Discussion of Factor V Leiden and its implications. Decision-Making and Next Steps Discussion of the patient's feelings and decision-making process regarding testing. Planning for screening tests and follow-up consultations. Conclusion Recap of the session and reassurance provided to the patient. Information on how to reach out with further questions and the plan for future appointments. Relevant Reproductive Genetic DNA Today Episodes: Episode #224 Single-Gene Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #225 Fetal Antigen Noninvasive Prenatal Testing (NIPT) with BillionToOne Episode #270 Embryo and Miscarriage Genetic Testing with Kelly Loggenberg Episode #348 NIPT Beyond the Basics: Screening for Single-Gene Conditions Previous installments of our Mock Genetic Counseling Session series: Episode #311: Cancer Session for Breast and Prostate Cancer Family History Episode #317: Prenatal Session for Advanced Maternal Age Episode #331: Pediatric Session for Autism Episode #351: Cardio Session for Sudden Death of A Family Member Disclaimer: Please note that the information provided in this mock genetic counseling session is intended strictly for educational purposes and should not be used for personal medical decision-making. If you have questions or concerns about your health, we encourage you to consult directly with a certified genetic counselor who can provide tailored medical recommendations. If you are in the United States, you can find a genetic counselor near you by visiting FindAGeneticCounselor.com. Stay tuned for an international genetic provider directory. Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive

Science and religion don’t have to be in conflict. In this special crossover, we premiere the pilot episode of “Gods and Genes”, a new brand podcast in the Gene Pool Media network hosted by Amber Sher, MS, CGC. Our host Kira Dineen interviews Amber about the conversations that emerge when genomics meets spirituality, from how clinicians respectfully engage with patients’ beliefs to how our own worldviews shape care at the bedside. Amber shares her personal background growing up in a religiously mixed home (Christian/atheist), her journey through deconstruction and back to a post-deconstruction Christian identity, and why that lived experience drew her to study religion and spirituality in genetic counseling for her graduate capstone at Keck Graduate Institute (KGI). With training in genetic counseling and a background shaped by a religiously mixed upbringing, Amber brings a unique perspective on how to navigate questions of faith in medical settings. Be sure to subscribe to Gods and Genes on your podcast app, here on Spotify and here on Apple Podcasts, so you don’t miss future episodes exploring belief, meaning, and medicine. Episode Topics Discussed: Why this show, why now: The vision for Gods and Genes and the gap it fills in clinical education and patient care. Science + spirituality as complements: Curiosity, mystery, and how questions in science and faith can productively coexist. Amber’s path: Growing up with Christian and atheist parents, deconstruction, and how that shapes her clinical stance today. Inside the capstone study: What genetic counselors report hearing from patients about faith/spirituality, and how prepared they feel. Key finding: Providers’ perceived helpfulness in faith-related conversations did not differ by their own religiosity, spirituality, affiliation, or years of experience, suggesting this is a trainable skill. Practical language clinicians can use: Validating statements (“It sounds like your faith is important in this decision…”) Reflective summaries to check understanding Thoughtful reframing that integrates beliefs with medical options (and knowing when to refer to chaplaincy) When beliefs and recommendations diverge: Staying non-directive, exploring assumptions, and correcting myths (e.g., privacy/HIPAA concerns). Partners in care: Why clergy (e.g., rabbis in Orthodox communities) are often medical advocates, not adversaries, and how to collaborate. Common misconceptions, both ways: Among clinicians about “what clergy do” and whether to invite them in Among faith communities about what genetic counselors do beyond prenatal care Invitations to the community: Amber seeks conversations with religious scholars, non-religion/unbelief researchers, chaplains, clinicians, and patients willing to share how belief (or non-belief) shaped their care. Correction: Around 12 minutes and 30 seconds into the episode (varies depending if you are consuming the audio or video version), Amber shares that in every session religion/spirituality comes up, she meant to say every rotation she went through, not with every patient. Key Takeaways: Patients raise spiritual or religious concerns more often than many trainees expect; be ready, not reactive. You don’t need to be religious to be helpful; skills can be learned (validation, reflection, collaboration). Not every visit needs a spiritual history, follow the patient’s lead. Chaplains, rabbis, clergy etc. can be allies who understand medical contexts and patient values. Thoughtful reframing (when appropriate) can align faith commitments with evidence-based options without being directive. Relevant Resources: Religion On the Mind podcast hosted by Dan Koch (Spotify, Apple, and Substack) "Utterly Humbled by Mystery" by Father Richard Rohr Rob Bell on Spirituality and Mystery Richeimer N, Wilson K, Petrasek A, Weiner J. Emunas Chachamim (faith in the sages): A prenatal genetic counseling needs assessment of Orthodox Jewish clergy in Los Angeles. J Genet Couns. 2024 Oct;33(5):1045-1058. doi: 10.1002/jgc4.1816. Epub 2023 Oct 25. PMID: 37877233. Thompson AB, Cragun D, Sumerau JE, Cragun RT, De Gifis V, Trepanier A. "Be Prepared if I Bring It Up:" Patients' Perceptions of the Utility of Religious and Spiritual Discussion During Genetic Counseling. J Genet Couns. 2016 Oct;25(5):945-56. doi: 10.1007/s10897-015-9922-9. Epub 2016 Jan 13. PMID: 26758255. Relevant DNA Today Podcast Episode: #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 Gene Pool Media: The Science Podcast Network Gods and Genes is the newest show on science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to all the podcasts in our network, you should check them via the links below! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series Parálisis Cerebral Respuestas If you h

We’re back from the 44th National Society of Genetic Counselors (NSGC) Annual Conference, which took place this year in scenic Seattle, Washington! Between the waterfront views, lively poster sessions, and packed educational symposia, the energy was electric as genetic counselors and industry partners came together to celebrate the progress and future of our field. This marks the 7th year in a row that DNA Today has produced an NSGC recap episode, and it continues to be our favorite conference of the year (shhh don’t tell the others). Our host Kira Dineen, MS, LCGC, CG(ASCP)CM, spent the week attending sessions, reconnecting with past guests and sponsors, and meeting so many listeners in person (thank you to everyone who stopped to say hello!). In this episode we conduct a few in-person lightning interviews featuring attendees of the conference highlighting their favorite sessions and what they learned. Attendees featured include Grace Drew, Celine Belekdanian, Sofia Sheikh, Cristina Liriano Cepin, and Kim Ta. Kira Dineen was one of six panelists for the preconference workshop, “Think Big, Start Small: A Practical Guide to Entrepreneurship”. After it wrapped she caught up with Kate Wilson to reflect on entrepreneurship as a career path for genetic counselors. Kate Wilson was the session coordinator and moderator. Kate’s two podcasts All Access DNA and DNA Dialogues are housed under our science podcast network, Gene Pool Media. Relevant Resources: NSGC Professional Status Survey (PSS) DNA Dialogues, Journal of Genetic Counseling’s Podcast All Access DNA Gene Pool Media: The Science Podcast Network Relevant DNA Today Podcast Episode: #232 Entrepreneurship in Genetics with Matt Tschirgi #302 DNA Dialogues: Gender-Affirming Terminology and Hereditary Cancer Care #307 NSGC 2024 Recap Curious about other NSGC conferences? We have recapped the last seven years of conferences including 2019, 2020, 2021, 2022, 2023, and 2024. Don't forget to mark your calendars! The 45th NSGC Annual Conference is happening next year in Baltimore, MD from November 10-14, 2025. We are already excited to eat lots of crab cakes with fellow genetic counselors. What’s next on our conference schedule? We will be in New Hampshire for NERGG December 4th and 5th. Our host Kira Dineen will be presenting about how to utilize social and digital media in advocacy efforts. Check out the agenda here and register here, and if you are a student you get 50% off! Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

The 11th annual Raw Science Film Festival took place this past weekend in New York City. We were lucky enough to be invited and had the honor of interviewing Dr. Larry Corey in-person. He is a renowned expert in virology, immunology and vaccine development who was featured throughout the film “Ending HIV: The Journey to a Vaccine”. The film won the Jury Award for Best Professional Documentary Feature at the festival. While at the festival our host/producer Kira Dineen accepted the Backstage Best Actor Award (Female) on Devin Sidell’s behalf. You may remember her from Episode #360 where we talked with her about her film “Love, Danielle” which is the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation. The Guest: Dr. Larry Corey is the former president and director of Fred Hutch Cancer Center. His research focuses on herpes viruses, HIV, the novel coronavirus and other viral infections, including those associated with cancer. For 25 years Dr. Corey has led the HIV Vaccine Trials Network (HVTN), the largest international research network focused on developing a safe and effective vaccine against HIV. In 2020 he was selected by Dr. Anthony Fauci to lead the CoVID Prevention Network to run the clinical trials for COVID-19 under Operation Warpspeed. The scientific work on HIV made it possible to achieve a COVID vaccine in record time. In turn, COVID vaccines gave us mRNA technologies and the ability to speed up vaccine development and save more lives. “Ending HIV: The Journey to a Vaccine” Documentary: This powerful and timely documentary masterfully chronicles one of the most significant scientific pursuits of our era, spanning decades of research and resilience. Since the early 1980s, scientists, researchers, community organizers, faith leaders, and countless organizations have poured their lives into understanding and battling HIV — the most complicated virus medicine has ever faced. When the HIV Vaccine Trials Network (HVTN) was formed in the 1990s, an unprecedented global collaboration took shape. But until now, the tireless work across countries, races, genders, and disciplines had never been fully narrated on screen. On This Episode We Discuss: In this in-person conversation, Dr. Larry Corey discusses his extensive experience in vaccine development, particularly focusing on the challenges of creating an HIV vaccine compared to COVID-19. He highlights the genetic diversity of HIV, the evolution of vaccine strategies, and the importance of community engagement in research. Dr. Corey also emphasizes the impact of HIV research on broader scientific fields and addresses the ongoing issue of vaccine skepticism in public health. HIV's genetic diversity complicates vaccine development significantly. Understanding immune evasion strategies is crucial for creating effective vaccines. The evolution of vaccine strategies has shifted focus from T cells to B cells. Infrastructure built for HIV research facilitated rapid COVID-19 vaccine development. Community engagement is essential for successful vaccine trials and public trust. HIV research has led to advancements in other areas of medicine and science. Continued funding for HIV research is critical for future breakthroughs. Vaccine skepticism poses a significant challenge to public health initiatives. Engaging with communities can help combat misinformation about vaccines. An HIV vaccine may be achievable within the next few years. Relevant Resources: Watch the full documentary “Ending HIV: Journey to a Vaccine” on their website here Learn about the HIV Vaccine Trial Network here Learn more about the science behind HIV research here See the road of the HIV milestones here Find out if there's a study clinic near you here, their studies are conducted at over 40 research sites across the United States Find out more about volunteering for a study here Access information about The Fred Hutch Cancer Center here Check out the Raw Science Film Festival here Brand new paper published on October 25th (the day we recorded) that Dr. Corey referenced. Youyi Fong, Yunda Huang, Ying Huang, Wayne Woo, Alice McGarry, Germán Áñez, Lisa M Dunkle, Iksung Cho, Christopher R Houchens, Karen Martins, Lakshmi Jayashankar, Flora Castellino, Christos J Petropoulos, Andrew Leith, Deanne Haugaard, William Webb, Yiwen Lu, Chenchen Yu, Lindsay N Carpp, April K Randhawa, Michele P Andrasik, James G Kublin, Julia Hutter, Maryam Keshtkar-Jahromi, Tatiana H Beresnev, Carina A Rodriguez, Milagritos Tapia, Christine B Turley, Carmen D Zorrilla, Stuart H Cohen, Susan E Kline, Elizabeth Barranco, Lawrence Corey, Kathleen M Neuzil, Dean Follmann, Julie A Ake, Cynthia L Gay, Karen L Kotloff, Thomas Jones, Richard A Koup, Ruben O Donis, Peter B Gilbert, on behalf of the Immune Assays Team, the Coronavirus Vaccine Prevention Network (CoVPN)/2019nCoV-301 Principal Investigators and Study Team, and the United States Government (USG)/CoVPN Biostatistics Team, Analy

On DNA Today, we spend a lot of time talking about genetic testing in the U.S., but what does this look like in other parts of the world? Since it’s Breast Cancer Awareness Month, we’re shifting our focus to Italy to explore how breast cancer genetic testing is being implemented there. We’re joined by two expert guests: Dr. Beatrice Salvatori, is a Scientist and Project Manager at Negedia, where she leads oncology-related projects and develops new research initiatives. With a PhD in Genetics and Molecular Biology, her career has spanned bioinformatics, breast cancer research, and now applying cutting-edge sequencing to expand access to hereditary cancer testing in Italy. Dr. Javier Batista Perez is a DCS Specialist at MGI Tech. For those that don’t know, DCS stands for "DNA Sequencing", "Cell Omics", and "Spatial Omics". With expertise across biophysics, bioinformatics, and therapeutic design, Dr. Perez brings deep knowledge of how MGI’s sequencing technologies are being applied across Europe and how they’re shaping the future of precision medicine. Topics Covered in This Episode How lifestyle, environment, and genetics contribute to cancer risk Why breast cancer genetic testing is a major public health priority in Italy The five-gene panel (BRCA1, BRCA2, CHEK2, PALB2, ATM) designed for hereditary breast and ovarian cancer, and why these genes were chosen How mutations (pathogenic variants) in these genes contribute to cancer risk Why Negedia partnered with MGI Tech and what makes the technology innovative Sequencing exons and select non-coding regions for more complete genetic risk analysis How variant databases have expanded, improving interpretation and curation The importance of cost-effectiveness in scaling genetic testing in national healthcare systems Unique barriers Italian patients face compared to the U.S. in accessing genetic testing The role of general practitioners vs. specialists in referrals for genetic testing in Italy Looking ahead: Will Italy move toward population-wide BRCA screening? Should more genes be added to future panels (TP53, RAD51C/D)? How spatial transcriptomics and multi-omics may reshape hereditary cancer care Biggest opportunities and challenges for scaling genetic testing globally Resources: Negedia MGI’s Sequencing Platforms Relevant DNA Today Podcast Episodes: #25 Cancer Hereditary Experts Amy Byer-Shainman, Ellen Matloff & Georgia Hurst #165 Sequencing for Cancer Risk with Sandra Balladares #159 Black Cancer Genes on Breast Cancer with Dena Goldberg (Dena DNA) & Erika Stallings #211 The Genome Defense’s Author Jorge Contreras On The Supreme Court Case for Gene Patents #309 Netflix’s Sandra Lee on her Breast Cancer and “Blue Ribbon Baking Championship” #311 Mock Hereditary Breast and Ovarian Cancer Genetic Counseling Session #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey with MGI Tech #360 Hereditary Breast Cancer on the Big Screen with “Love, Danielle” Fact Check: Kira was correct when she quoted 1 in 8 people assigned female at birth will develop breast cancer in their life, according to The National Breast Cancer Foundation Inc. Connect With Us: Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

We just wrapped an incredible week at the American Society of Human Genetics (ASHG) 2025 Annual Meeting in the historic Boston, Massachusetts! This year’s gathering brought together thousands of geneticists, clinicians, and innovators to share discoveries that are reshaping the field. In this episode of DNA Today, host Kira Dineen takes you inside the conference experience, from lively poster sessions and thought-provoking sessions to spontaneous hallway conversations that sparked new ideas. You’ll hear from researchers pushing the boundaries of genomic medicine, genetic counselors reflecting on the future of the profession, and industry leaders unveiling the latest breakthroughs in sequencing and data interpretation. The energy in Boston was electric, collaboration and networking were the keywords of the week, and optimism about the future of genetics filled every session. Whether you attended in person or are catching up from afar, this recap captures the highlights, trends, and takeaways that defined ASHG 2025. Sessions Recapped & Conference Aspects Explored: Ivy Bethea’s presentation, “Comparing the Diagnostic Capability of Large Language Models and Clinical Geneticists,” was discussed. She was the first genetic counseling trainee to deliver a plenary talk at the conference. Ivy Bethea is a recent graduate of the The Columbia University Program in Genetic Counseling. We also teamed up with Wiley Advanced Portfolio to co-host a breakfast where our host Kira Dineen moderated a panel exploring the publishing landscape in genetics. Highlights from this session were recapped and reflected upon. The expert that holds the record for most guest appearances on DNA Today is Dr. Eric Green, who received the prestigious and well deserved ASHG 2025 Leadership Award. We reflect on his acceptance speech filled with wisdom for genetic experts to be leaders. We recognized the absence of many of his colleagues at the NIH as they were not permitted to travel to the conference during the US government shutdown and the impact it had at the conference overall. We also discussed how funding has drastically changed from the NIH and how that is affecting genetic research in the US. Guests: Dr. Yuming Hu is a scientist turned publisher who serves as part of the editorial leadership at Wiley’s Advanced Portfolio. She has ten years of research experience, focusing on plant biology and environmental sciences. Before joining Wiley in 2022, she worked as a postdoctoral researcher at Tsinghua University, China. She had also worked as a research assistant at the University of California, Davis. Yuming obtained her Ph.D. in biochemistry and biotechnology from Ghent University, Belgium. She studied biotechnology, and got her M.Sc. and B.Sc. degrees from Wageningen University, the Netherlands. Yuming brings a global and cross-disciplinary perspective to how research is shared, discovered, and amplified. Dr. Elizabeth Bhoj is an attending physician and researcher at the Children’s Hospital of Philadelphia and an assistant professor at the University of Pennsylvania’s Perelman School of Medicine. Her work focuses on discovering new genetic disorders, understanding how they work, and developing targeted therapies, bringing hope to families facing rare diseases. At the conference, she was the recipient of the ASHG Early Career Award, recognizing her extraordinary contributions to human genetics. Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement, work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English. Science Communication Resources: The Science Underground, for all your science communication consultation needs “Public Knowledge of and Attitudes Toward Genetics and Genetic Testing” in Genetic Testing and Molecular Biomarkers Telomere-to-Telomere (T2T) NHGRI symposium confronts difficult pasts of eugenics and scientific racism NHGRI’s Human Genome Fact Sheet NIH’s Tribal Health Research Office Publishing Resources: Wiley Advanced Portfolio Wiley’s Journal Finder Genetics and Genomics: Advanced Science Collection Precision medicine: From new tools to i

What if we could detect structural changes in DNA that traditional tests often miss? On this episode of DNA Today, we’re diving into optical genome mapping (OGM), a cutting-edge technology transforming how we detect genetic variants and structural abnormalities. We’ll explore what OGM is, how it compares to existing genetic tests, and what it means for patients and families worldwide. Our guest is Dr. Nikhil Sahajpal, Assistant Director in the Cytogenetics and Molecular Laboratories at the Greenwood Genetic Center (GGC) in Greenwood, SC. He led the validation of OGM at GGC. He earned his PhD in Pharmaceutical Sciences in India before completing postdoctoral training at Augusta University in Augusta, Georgia, where he focused on advancing molecular and cytogenetic methodologies for prenatal, pediatric, and oncology applications. During his time there, he also played a key role in establishing FDA/EUA-approved diagnostic testing and research for COVID-19. Dr. Sahajpal began his Laboratory Genetics & Genomics fellowship at GGC in the summer of 2022. During his fellowship, he trained extensively in the implementation and interpretation of molecular and cytogenetic diagnostic tests and led the development and validation of a novel clinical test, optical genome mapping. Now as an Assistant Director, Dr. Sahajpal continues his innovative work while advancing GGC’s mission of providing state-of-the-art diagnostic tools along with compassionate care for patients and families affected by genetic disorders. In this conversation, we explore: OGM basics – what it is, how it works, and why it matters Why Greenwood Genetic Center adopted OGM and Dr. Sahajpal’s role in leading the project How OGM compares to karyotyping, microarray, FISH, and NGS The resolution advantage of OGM and its impact on clinical care Early success stories where OGM provided answers missed by other methods Insights from GGC’s study on neural tube defects (NTDs), including the discovery of candidate genes (RMND5A, HNRNPC, FOXD4, and RBBP4) How OGM could help reduce the diagnostic odyssey for rare disease patients The future of OGM – will it replace traditional cytogenetic techniques or work alongside them? Relevant Resources: Greenwood Genetic Center’s Optical Genome Mapping – Complete and Targeted Study Using OGM in Neural Tube Defects Reveals Previously Unreported Variants and Candidate Genes with Potential Links to the Devastating Birth Defect Sahajpal Completes Laboratory Fellowship at GGC and Joins Faculty Sahajpal NS, Mondal AK, Singh H, Vashisht A, Ananth S, Saul D, Hastie AR, Hilton B, DuPont BR, Savage NM, Kota V, Chaubey A, Cortes JE, Kolhe R. Clinical Utility of Optical Genome Mapping and 523-Gene Next Generation Sequencing Panel for Comprehensive Evaluation of Myeloid Cancers. Cancers (Basel). 2023 Jun 16;15(12):3214. doi: 10.3390/cancers15123214. PMID: 37370824; PMCID: PMC10296552. Relevant DNA Today Podcast Episode: #145 Greenwood Genetic Center on Epigenetics #279 Reflecting on 50 Years of Greenwood Genetic Center #355 How Genomics Is Transforming Rare Disease Diagnosis in Turkey (discusses dual diagnoses) Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

The third Connecticut Genetic Counselors' Association (CTGCA) Annual Educational Conference was held last Friday (September 25th, 2025) at the gorgeous Jackson Laboratory for Genomic Medicine in Farmington, Connecticut. Our host Kira Dineen resides in Connecticut and has been lucky enough to present every year. This time moderating a panel about the economics of genetic counseling, which is now shared as this podcast episode. This panel conversation explores the economics of genetic counseling, focusing on the current financial climate, the role of genetic counselors in healthcare, and the importance of adaptability and networking for career development. The discussion explores challenges faced by students and professionals in the field, the need for expanded roles, and the significance of engaging with industry and policy to secure the future of genetic counseling. The Connecticut Genetic Counselors' Association (CTGCA) is a not-for-profit statewide genetic counselors' association with a mission to foster, support, and strengthen the community of genetic professionals, in the common pursuit of improving clinical genetics and genomics care, within the state of CT. If you are a genetic counselor who lives in Connecticut become a member for free here. The Jackson Laboratory for Genomic Medicine focuses on research in human genomics, complementing their long history of mammalian genetics expertise. JAX Genomic Medicine, which opened in 2014 next to the UConn Health campus, facilitates clinical collaboration with Connecticut’s many universities and hospitals. Kira Dineen also attended the grand opening back in 2014 and recapped it on all the way back on Episode #6 of DNA Today. The Panel: Ellen Matloff, MS, CGC is the President and CEO of My Gene Counsel. Ellen is the founder and former director of the Cancer Genetic Counseling Program at Yale School of Medicine. Ellen has authored more than 50 scientific publications in the field; is an established educator, lecturer, and media spokesperson; and has received national awards for her ongoing patient advocacy efforts. She is an outspoken patient advocate in many areas, most notably as a plaintiff in the 2013 BRCA gene patent case that went before the Supreme Court in 2013. This decision led to drastically lower prices of genetic testing, making it possible for more patients to afford this technology. As genetic testing became more common and also more complex, she served as the senior author on several publications documenting national errors in the misinterpretation of genetic test results. From these experiences, Ellen created My Gene Counsel and its associated digital tools that can be used in parallel with genetic testing to help ensure that results are used accurately and effectively. Maria Gyure, MS, CGC currently serves as the Program Director for the University of Connecticut’s Genetic Counseling Professional Science Master’s Degree Program. Her passion for education in clinical genetics led her to design and lead two online graduate certificate programs for UConn. Her expertise in online learning has been recognized nationally and she continues to champion for the benefits of quality and accessible learning. An alumna, she attended UConn on a 4-year Academic Leadership Scholarship where earned a Bachelor of Science degree in Diagnostic Genetic Sciences and a minor in Molecular and Cell Biology. Maria subsequently matriculated into the Genetic Counseling Program at Virginia Commonwealth University in Richmond, VA, where she earned a Master’s of Science in Genetic Counseling and completed the VA Leadership Education in Neurodevelopmental Disabilities (Va-LEND) program. Maria served as a clinical genetic counselor and later combined genetic counseling with research and served as the research coordinator for multiple federally funded research grants on both family communication about cancer and interventions for young children at risk for emotional and behavioral disorders. Maria has several publications in her specialty in addition to invited presentations and service on graduate advisory committees. She maintains her clinical skills by counseling pediatric genetics patients at UConn Health and is a true voice for underserved populations. Samantha Baxter, MS, CGC is the associate director, genetic and genomic data sharing, and a genetic counselor in the Program in Medical and Population Genetics Translational Genomics Group at the Broad Institute of MIT and Harvard. She is the operations manager and council member for gnomAD, she co-chairs the policy working group for the GREGoR Consortium, and she leads the TGG’s variant curation team. Baxter began her tenure at the Broad Institute in 2016 as a clinical project manager and genetic counselor. In 2018, she became a senior clinical genomics specialist and founded the Genetic Counselor Affinity Group. She also took an appointment as an adjunct associate professor at the MGH Institute of Health Professions in 2

What would you do if you learned your DNA carried a mutation that gave you up to an 85% lifetime risk of breast cancer? That’s the impossible decision at the heart of Love, Danielle, the first scripted feature film to explore the very real struggles of living with a BRCA gene mutation. In this episode, we are joined by Devin Sidell, the film’s co-writer, producer, and lead actress, who brings her own BRCA1 journey to the screen, and Amy Byer Shainman, the BRCA Responder, a patient advocate and producer of the film. Together, we explore the science of BRCA mutations, the personal impact of hereditary cancer, and how storytelling can transform the way we understand genetics and health. Breast cancer awareness month starts next week which is perfect timing as for Love, Danielle will be released in North America on October 3, 2025! You can watch it on Apple TV, Amazon Prime, and many more digital platforms. Devin Sidell A Los Angeles native, Devin Sidell graduated cum laude from Princeton University and then moved back to L.A. to pursue a career in film and television, appearing as Teen Lois on "Malcolm in the Middle" and recurring as Abigail Stevens on "The O.C." She won an L.A. Weekly Award for her performance in "Land of the Tigers" at Sacred Fools Theatre and was nominated for both LADCC and Ovation Awards for the musical "The Behavior of Broadus," co-produced by Center Theatre Group. Devin has appeared in shows at the Kirk Douglas Theatre as well as on The Broad Stage opposite Josh Gad and Bryce Dallas Howard. In addition to appearances on "Ray Donovan" opposite Liev Schreiber, the viral singing criminals cold open on "Brooklyn Nine-Nine" (yes, that cold open!), "NCIS," Lena Waithe's "Twenties," and B.J. Novak's "The Premise," Devin appears in Rob Zombie's horror film "31" (Sundance Film Festival) and recurs as a sketch performer on "Jimmy Kimmel Live!" A carrier of the BRCA1 gene mutation with a family history of ovarian and breast cancers, Devin decided in 2017 to undergo both a preventative double mastectomy and a preventative hysterectomy/oophorectomy, earning her the label of "previvor." She is in post production on the dark comedy feature film "Love, Danielle" about her experience. She is a proud member of the Television Academy. Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal. Amy Byer-Shainman Amy Byer Shainman, also known as BRCA Responder, is an advocate, author, and producer providing support and education surrounding BRCA and other hereditary cancer syndromes. Her goal is to educate, entertain, and empower others through creative writing and film. Her medical memoir Resurrection Lily has won 14 literary awards and was a 2020 book club selection of the National Library of Medicine. She has also been an Executive Producer for multiple documentaries including The Two Dollar Bill Documentary and Pink & Blue: Colors of Hereditary Cancer. She is a producer on the feature film Love, Danielle. Fun sidenote, before we hit record Devin Sidell was sharing what it was like to film the hilarious and viral “I Want It That Way” scene in Fox’s TV show Brooklyn Nine-Nine. It has gone viral with over 43 million views on YouTube alone. Devin plays the female character identifying the criminal. Topics Covered How Devin’s personal BRCA1 positive experience inspired Love, Danielle The role of advocacy and why Amy joined the project as a producer Breast, ovarian, prostate, and other cancer risks linked to BRCA1/2 mutations Emotional realities of risk-reducing surgery and family dynamics in hereditary cancer Fertility, family planning, and their intersection with BRCA decision-making Misconceptions about BRCA testing and hereditary cancer syndromes The power of storytelling in changing public understanding of genetics Community, support networks, and the importance of patient voices Reflections on the response from the BRCA and previvor community Resources & Links LoveDanielleFilm.com Upcoming Film Screenings CALIFORNIA (Los Angeles) - Awareness Film Festival - Saturday, October 25th @ 7pm at Illusion Magic Lounge in Santa Monica. MASSACHUSETTS (Boston) - American Society of Human Genetics Conference - Friday, October 17th @ 7pm at Alamo Drafthouse Cinema Boston Seaport CONNECTICUT - Mystic Film Festival - Friday, October 3rd @ 2:30pm at United Theatre. BRCAresponder.com DevinSidell.com FindAGeneticCounselor.com Check out all the shows and films Devin Sidell has been an actress, writer and/or producer in via IMDb including Parks and Recreation, NCIS, Jane The Virgin, The Last Of Us Video Game, The OC, Ray Donovan, and so many more. Check out the documentaries Amy Byer-Shainman has produced via IMDb including Pink & Blue: Colors of Hereditary Cancer, The Two Dollar

What’s the most common form of skeletal dysplasia? Achondroplasia, and that’s exactly what we’re exploring in this podcast episode of DNA Today. Joining us is Dr. Janet Legare, a leading expert in pediatric genetics and skeletal disorders. She serves as the director of both the Midwest Regional Bone Dysplasia Clinic and the Neuromotor Development Clinic at UW Health Kids. With a long-standing research and clinical focus on achondroplasia, Dr. Legare is here to walk us through the condition’s genetic cause, clinical presentation, and the importance of a multidisciplinary care model. We also discuss non-invasive prenatal screening (NIPS), psychosocial support, and the community’s role through organizations like Little People of America. Key Takeaways: Achondroplasia is caused by a gain-of-function variant in the FGFR3 gene, which causes impairment of endochondral bone growth. 80% of cases occur de novo in families without a history of skeletal dysplasia. Multisystem complications beyond bone growth require coordinated care. NIPS may detect achondroplasia earlier than ultrasound in some cases. Tailored growth charts and tools like QoLISSY support tracking and quality of life. Psychosocial and community support is crucial, especially early in life. Misconceptions remain and genetic counseling plays a key role in correcting them. Relevant Skeletal Dysplasia DNA Today Episodes: #192 Osteogenesis Imperfecta with The Middle’s Atticus Shaffer #301 Dwarfism with Colleen Gioffreda #348: NIPT Beyond the Basics: Screening for Single-Gene Conditions (including skeletal dysplasia disorders) Achondroplasia Resources: Little People of America (LPA) Dwarf Athletic Association of America (DAAA) International Achondroplasia Forum Achondroplasia GeneReviews Ireland PJ, Johnson S, Donaghey S, Johnston L, McGill J, Zankl A, Ware RS, Pacey V, Ault J, Savarirayan R, Sillence D, Thompson E, Townshend S. Developmental milestones in infants and young Australasian children with achondroplasia. J Dev Behav Pediatr. 2010 Jan;31(1):41-7. doi: 10.1097/DBP.0b013e3181c72052. PMID: 20081435. Julie Hoover-Fong, Charles I. Scott, Marilyn C. Jones, COMMITTEE ON GENETICS, Emily Chen, Tracy L. Trotter, Susan A. Berry, Leah W. Burke, Timothy A. Geleske, Rizwan Hamid, Robert J. Hopkin, Wendy J. Introne, Michael J. Lyons, Angela Scheuerle, Joan M. Stoler; Health Supervision for People With Achondroplasia. Pediatrics June 2020; 145 (6): e20201010. 10.1542/peds.2020-1010 Stay tuned... this episode is actually the first episode in a series about achondroplasia. In the next installment we will learn more about co-morbidities and multidisciplinary care. Then in the third episode will discuss currently available targeted therapy. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

The AGBT Precision Health 2025 Meeting took place this week at the sunny and gorgeous Loews Coronado Bay Resort in the San Diego, California area. This conference brings together leading genomics researchers, healthcare professionals, and healthcare industry stakeholders to usher in a new era of precision medicine. Precision Health remains at the forefront of cutting-edge technologies, real-world implementation, and groundbreaking research in genomic medicine. Since its launch in 2016, this meeting has showcased the most impactful discoveries and large-scale initiatives shaping the future of healthcare—from national genomics strategies and international biobank efforts to hospital-driven diagnostic innovation and reimbursement models. Building on AGBT’s legacy of spotlighting transformative technologies and fostering public-private collaboration, the Precision Health Meeting emphasizes advances in clinical diagnostics, therapeutic development, and our growing understanding of genotype-phenotype relationships. Some of the biggest names in genomics presented and we caught up with a few of them to capture their insights on the show to share with all of you. The Guests Dr. Eric Green is the former director of the National Human Genome Research Institute (NHGRI) at the U.S. National Institutes of Health (NIH). 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). Throughout his career, he has authored and co-authored over 385 scientific publications. Dr. Green is a recurring guest on DNA Today, and he might hold the title as the guest who has been on the show the most times! Dr. Christine Eng is the Chief Medical Officer and Chief Quality Officer at Baylor Genetics, where she leads their clinical strategy and ensures the highest standards in genetic testing for patients across all ages, especially children with rare, undiagnosed genetic disorders. She is also the Vice Chair for Diagnostic Laboratory Affairs at Baylor College of Medicine. As a board-certified pediatrician and clinical geneticist, she has spent her career at the intersection of improving patient care, scientific innovation, and genomic medicine. Dr. Eng has been a pioneer in implementing genomics into clinical practice, and her work is shining a light on how RNAseq and multi-omic approaches are transforming the way we diagnose and care for patients. Stay tuned for a future episode where we dive deeper about RNAseq and other multi-omic approaches with Dr. Eng. Marina Sirota is currently a Professor and the Acting Director at the Bakar Computational Health Sciences Institute at UCSF. Prior to that she has worked as a Senior Research Scientist at Pfizer where she focused on developing Precision Medicine strategies in drug discovery. She completed her PhD in Biomedical Informatics at Stanford University. Dr. Sirota’s research experience in translational bioinformatics spans nearly 20 years during which she has co-authored over 170 scientific publications. Her research interests lie in developing computational integrative methods and applying these approaches in the context of disease diagnostics and therapeutics with a special focus on women’s health. The Sirota laboratory is funded by NIA, NLM, NIAMS, Pfizer, March of Dimes and the Burroughs Wellcome Fund. As a young leader in the field, she has been awarded the AMIA Young Investigator Award in 2017. She leads the UCSF March of Dimes Prematurity Research Center at UCSF as well as co-directs ENACT, a center to study precision medicine for endometriosis. Dr. Sirota also is the founding director of the AI4ALL program at UCSF, with the goal of introducing high school girls to applications of AI and machine learning in biomedicine. Resources: The Advances in Genome Biology and Technology (AGBT) website AGBT Precision Health Conference website Baylor Genetics website Baylor Genetics to Showcase RNA Sequencing Breakthroughs for Rare Disease Diagnosis at 2025 AGBT Precision Health Me

Happy September and back-to-school season, going with this theme we are sharing an episode from a show in our Science Podcast Network, Gene Pool Media. The podcast is called Beyond The Thesis with Papa PhD. It’s hosted by the wonderful Dr. David Mendes and in this episode that you are about to hear he interviews me. We recorded this three years ago, but as I was listening back to our conversation, I realized it was still relevant and timely with most, if not all, applications for genetic counseling and other graduate schools now open. We also chat about science communications and networking and other important aspects of a science career. Over the years I’ve mentored dozens of applicants through this application process and enjoy being a part of their journeys where I can offer advice along the way. I thought it would be helpful to adapt this into a formal group so a couple years ago we launched a Patreon geared specifically towards DNA Today listeners who are going through the GC application process. So I’ll throw that in the show notes or you can go to Patreon.com/DNATodayPodcast if you want to join, especially for our monthly Zoom chats about applications. As we mentioned above, this episode originally aired on Beyond The Thesis with Papa PhD, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series Parálisis Cerebral Respuestas Two brand new shows debuting later this year If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at [email protected]. I’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network. Episode Topics: Grad School Application Best Practices: Insights into personal branding, networking, and navigating the application process for grad school. Science Communication's Role: How podcasting and other forms of science communication have influenced Kira Dineen's career as a genetic counselor. Networking and Personal Branding: The importance of networking and personal branding in building a career, especially when academic grades aren't stellar. Genetic Counseling Career Path: The educational requirements and career path for becoming a genetic counselor in the US and Canada. Communication Skills: The critical role of communication skills in both academic and professional settings, particularly in science-related fields. Informational Interviews: The value of conducting informational interviews to build connections and gain insights into potential career paths. Personal Statement Writing: Tips for crafting a compelling personal statement for grad school applications. DNA Today Relevant Episodes: #87 Genetic Counseling Grad School Apps (Part 1) #97 Genetic Counseling Grad School Interviews, Ranking, Matching (Part 2) #101 Genetic Counseling Match Day #193 Genetic Counseling Application Advice with GC Prep: Part 1 #194 Genetic Counseling Application Advice with GC Prep: Part 2 #245 Genetic Counseling Program Applications: Part 1 #246 Genetic Counseling Program Applications: Part 2 Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen, just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What does it really take to move the needle on health equity for rare diseases, especially on Capitol Hill? In this episode, we are joined by Jenifer Waldrop, Executive Director of the Rare Disease Diversity Coalition (RDDC). Under her leadership, the coalition is tackling systemic inequities across the rare disease journey, from timely diagnosis to clinical trial access, treatment development, and sustained care. With partnerships across biotech, government, and patient advocacy groups, RDDC is reshaping the policy landscape to ensure historically underrepresented communities are not left behind. Right now we are capturing Jenifer’s insider perspective on advocacy strategies, legislative progress, and how every member of the rare disease community can engage in meaningful change. Topics Covered in This Episode: Why the Rare Disease Diversity Coalition (RDDC) was created Unique health disparities impacting rare disease patients Barriers faced by black, brown, and LGBTQ+ communities in rare disease care Collaborations between advocacy organizations and biotech leaders like Amgen Legislative efforts, including RDDC’s HEARD (H.R.1750) health equity bill with Rep. Marilyn Strickland Strategies for engaging Congress and policymakers effectively How patients and families can prepare for Capitol Hill advocacy meetings Practical advice for advocates who feel powerless but want to get involved Long-term vision for advancing equity in rare disease research, care, and policy Resources: Rare Disease Diversity Coalition (RDDC) Website The Orphan Drug Act 1983 strongly influenced by The National Organization for Rare Disorders (NORD) H.R.1750 - HEARD Act of 2025 (Health Equity and Rare Disease Act of 2025) The Tuskegee Syphilis Study We Work For Health Relevant DNA Today Episodes : Amgen's Urea Cycle Disorder Series Part 1: #282 The Evolution of Caring for Females With OTC Deficiency Amgen's Urea Cycle Disorder Series Part 2: #323 Supporting Ongoing Urea Cycle Disorder (UCD) Care Amgen's Urea Cycle Disorder Series Part 2: #338 Social Determinants of Health and Mental Health in Urea Cycle Disorders Connect with DNA Today: Shoutout to listener Grace Dougherty for recommending Jenifer Waldrop to be a guest on the show! Do you have someone you want to hear on DNA Today? Send a pitch to [email protected]. Get ready, genetic nerds—another brand-new episode of DNA Today drops next Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

What if we could ease the suffering of patients with undiagnosed or rare diseases? In this episode, we explore how genomics is reshaping care for some of the most medically complex patients, focusing on the rare disease landscape in Turkey. Our guests are Professor Serdar Ceylaner, a leading medical geneticist and founder of the Intergen Center for Genetics and Rare Disease Diagnosis and Research, and Alice Peng from MGI Tech, a global leader in gene sequencing innovation. Together, they offer a powerful global perspective on the challenges and solutions in rare disease diagnostics, from rapid whole genome sequencing in the NICU to affordable access in developing regions. Alice (Yao) Peng, Sales Manager of MGI, is responsible for the Turkish Market. She has been working in the genomics field for eight years, the last five have been with MGI. Her background is in preventive medicine, and she is passionate about bringing innovative genetic solutions to customers in Turkey. Professor Dr. Serdar Ceylaner is a medical doctor - medical geneticist who focuses on rare and undiagnosed diseases for both diagnosis and scientific studies. He is the director, partner and founder of Intergen Genetics and Rare Diseases Diagnostic and Research Center and Lokman Hekim University, Department of Medical Genetics. He holds various leadership positions including being the Vice President of the Rare and Undiagnosed Diseases Committee, of the European Union of Medical Specialists (UEMS). Dr. Ceylaner is the former president of the Turkish Medical Genetics Association. He was the founder of the Genetics Department of Zekai Tahir Burak Women's Health and Training Hospital between 1997 and 2017. He has focused on genetics and rare diseases and studies in this field for 30 years. He established a center for diagnosis, research and educational work in this field. Undiagnosed diseases, medical complications, and intensive care unit patients are the main research areas in recent years. He has experience in more than 250 international publications, 10 book chapters, more than 500 conferences, and more than 50 scientific projects. Topics include: The rare disease burden in Turkey and the impact of consanguinity Prevalence of dual or triple diagnoses in Turkey and the impact of tailoring treatment Why exome and genome sequencing are replacing panel testing The diagnostic power of rapid WGS in NICUs Tools MGI offers to accelerate analysis and interpretation Making sequencing more accessible in low-resource settings The role of genomics in precision prescribing Opportunities to improve patient quality of life post-diagnosis What’s next for sequencing innovation and rare disease care Relevant Resources: DNA Today Episode #109 Shenela Lakhani on Genetic Counseling in Qatar The Undiagnosed Diseases Network (UDN) MGI’s Sequencing Platforms Dr. Serdar Ceylander’s INTERGEN Genetics and Rare Diseases Diagnosis Research & Application Center Connect With Us Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM. Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Why do some medications work perfectly for one person but cause side effects—or fail completely—for another? The answer often lies in our genes. Pharmacogenomic (PGx) testing analyzes how our DNA affects our response to medications, helping doctors personalize treatment, reduce adverse reactions, and improve outcomes. Joining us today are Kristy Bouvier and Kathleen O’Brien from Quest Diagnostics, both of whom have decades of experience in the field. Kristy, a product manager, brings deep expertise in pharmaceuticals, while Kathleen, a board-certified genetic counselor, specializes in pharmacogenomics and hereditary oncology. In this episode, we’ll explore: ✅ How pharmacogenomics (PGx) works and what results the test provides ✅ How PGx testing prevents adverse drug reactions and improves treatment ✅ Real-world examples of PGx in action ✅ Challenges and future trends in integrating pharmacogenomics into healthcare ✅ What patients should know before getting tested The Panel: Kristy Bouvier started her career with Quest Diagnostics in 2014 as a Neurology Account Executive for the Boston North territory. In this role she has over 8 years of experience in laboratory sales specializing in neurology and genetics. Currently Kristy serves as a product manager for U.S. Specialty genetics where she is responsible for the Quest genetics portfolio in rare diseases. She currently manages the biochemical genetics, cytogenetics, pharmacogenomics, and whole exome product lines. Kathleen O’Brien, MS, DABMG, CGC is a board-certified genetic counselor who has been with Quest Diagnostics since 2005. She previously worked in clinical genetic counseling at Stony Brook University Hospital, Winthrop University Hospital (now NYU), and the NYS Institute for Basic Research. She earned her Master of Science in Genetic Counseling from the University of Colorado Health Sciences Center and has a special interest in hereditary oncology and pharmacogenomics, actively contributing to CPIC, NSGC, and the NSGC pharmacogenetics working group. Resources: Quest’s New Pharmacogenomics Panel GeneReviews ClinPGx Sequence2Script The PREPARE Study Table of Pharmacogenomic Biomarkers in Drug Labeling The Clinical Pharmacogenetics Implementation Consortium (CPIC®) DNA Today Episode #324 Genetic Contraindications for Ozempic and Wegovy (GLP-1 Agonists) with Dr. Josiah Allen Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This special episode of DNA Today was recorded live during Cocktails & Chromosomes, a celebration hosted by Team Telomere in New York City. Held at the stunning venue donated by Hogan Lovells (390 Madison Ave), the evening brought together the telomere biology disorder (TBD) community, including patients, families, clinicians, and researchers, for cocktails, connection, and powerful conversations. Two inspiring and informative guests join the episode: Jena Robertson is the Program Administrator at Team Telomere, a patient advocate, and mother to Lorelei (“Rori”), a young girl living with a telomere biology disorder. Will Mannherz is a MD-PhD Harvard Medical School student and co-author of multiple research papers exploring TBDs and emerging therapeutic strategies. Together, Jena and Will help us understand both the personal and scientific sides of TBDs, from diagnosis to discovery. Topics Covered in This Episode Jena shares the emotional and complex diagnostic odyssey for her daughter Rori that included multiple misdiagnoses. Rori’s final correct diagnosis of Dyskeratosis Congenita, which is a telomere biology disorder. What it’s like parenting a child with a rare, poorly understood condition. The role of Team Telomere in providing support, resources, and hope to families worldwide. Will explains the biology of telomeres, what goes wrong in TBDs, and how thymidine may help elongate telomeres. Importance of family health history in understanding TBD disorders Insights from recent research and what early findings suggest about future treatment potential. How researchers and families are coming together to accelerate progress in this ultra-rare disease space. The upcoming clinical trial starting Fall 2025 at Boston Children’s Hospital Slight correction: In the interview Kira indicates that Team Telomere exclusively raised $1 million for the disorder, this is incorrect, there were other donors involved that all added up to $1 million including Boston’s Children’s Hospital and the Martin family. Memorable Quotes 🗨️ “We kept getting misdiagnoses... it was frustrating, but it also pushed us to keep looking until we found someone who understood telomere biology.” – Jena Robertson 🗨️ “It’s rare, but the impact is massive. Understanding telomere biology isn’t just about rare disorders—it’s about aging, cancer, and regenerative medicine.” – Will Mannherz, MD, PhD About Team Telomere Team Telomere is a New York–based nonprofit dedicated to supporting families impacted by telomere biology disorders. Through advocacy, community-building events like Cocktails & Chromosomes, and support of cutting-edge research, Team Telomere is lighting the path forward for TBD patients and their families. Learn more and get involved here. Relevant Resources DNA Today Episode #93 Team Telomere featuring Dr. Suneet Argwal, Katie Stevens, and Dr. Sharen Savage A Race for Rori: The Work of Dr. Suneet Agarwal (Video played at event) Team Telomere Team Telomere’s Profile on Rori Agarwal Lab (Drs. Suneet Agarwal, Will Mannherz, et. al. TBD research) Fall 2025 Clinical Trial: Nucleoside Therapy in Patients With Telomere Biology Disorders Dyskeratosis Congenita Information via Boston Children’s Hospital “Playing the long game: An exciting discovery in telomere disease” Boston Children’s Hospital Article Referenced Research Articles Check out these key papers Will Mannherz brought up during the episode related to telomere biology disorders and thymidine research. Many of which he is a co-author on! Domínguez-González, C., Madruga-Garrido, M., Mavillard, F., Garone, C., Aguirre-Rodríguez, F. J., Donati, M. A., Kleinsteuber, K., Martí, I., Martín-Hernández, E., Morealejo-Aycinena, J. P., Munell, F., Nascimento, A., Kalko, S. G., Sardina, M. D., Álvarez Del Vayo, C., Serrano, O., Long, Y., Tu, Y., Levin, B., Thompson, J. L. P., … Hirano, M. (2019). Deoxynucleoside Therapy for Thymidine Kinase 2-Deficient Myopathy. Annals of neurology, 86(2), 293–303. https://doi.org/10.1002/ana.25506 Mannherz, W., Agarwal, S. Thymidine nucleotide metabolism controls human telomere length. Nat Genet 55, 568–580 (2023). https://doi.org/10.1038/s41588-023-01339-5 Mannherz, W., Crompton, A., Lampl, N. et al. Metabolic constraint of human telomere length by nucleotide salvage efficiency. Nat Commun 16, 3000 (2025). https://doi.org/10.1038/s41467-025-58221-7 van der Vis, J. J., van der Smagt, J. J., Hennekam, F. A. M., Grutters, J. C., & van Moorsel, C. H. M. (2020). Pulmonary Fibrosis and a TERT Founder Mutation With a Latency Period of 300 Years. Chest, 158(2), 612–619. https://doi.org/10.1016/j.chest.2020.03.069 Vulliamy, T., Marrone, A., Szydlo, R. et al. Disease anticipation is associated with progressive telomere shortening in families with dyskeratosis congenita due to mutations in TERC. Nat Genet 36, 447–449 (2004). https://doi.org/10.1038/ng1346 Connect With DNA Today Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday!

In this bold and wide-ranging conversation, Ian Wendt and Na-Ri Oh sit down with Andrew Craig—British investor, entrepreneur, and author—to explore how biotechnology is poised to shape the next century in the same way physics and computing shaped the last. Craig draws on his decades of experience as a London and New York investment banker and as a former partner at WG Partners, where he advised more than 60 biotech companies and worked on marquee deals like the $7.6B sale of Nordia Bank and IPOs for brands like EasyJet and Burberry. But his latest passion lies at the intersection of finance and innovation: making the case that our future is biotech, without a question mark. This episode originally aired on RealPharma, which is one of 10 shows in our new science podcast network, Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series All Access DNA Parálisis Cerebral Respuestas Two brand new shows debuting later this year If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at [email protected]. I’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network. Topics Covered Why biology will define the 21st century: Andrew outlines the structural and technological reasons biotech is primed for exponential impact. CRISPR, AI, and the "exponential stack": How data storage, ML, and sequencing speed make today's breakthroughs possible. Fixing Europe's biotech lag: The cultural, capital, and regulatory headwinds slowing biotech innovation in the UK and EU. Rebuilding trust in pharma: Why good actors in drug development don’t get headlines—and how that hurts innovation. From Oxford Biomedica to DNA-based storage: Vivid examples of tech cost reductions and where we're headed next. The case for optimism: How to resist the press's negative bias and invest in human progress—literally. Resources & Links 📘 Andrew’s latest book: Our Future is Biotech on Amazon 📕 His first bestseller: How to Own the World on Amazon 🌐 Plain English Finance: www.plainenglishfinance.com 🔗 Connect with Andrew on LinkedIn: linkedin.com/in/andrewcraigpef Memorable Quotes “The last century was about physics and tech. The next one will be about biology—and by extension, biotech.” “If success begets success, then a crop of billion-dollar biotech companies in Europe can kickstart a self-sustaining cycle of innovation and investment.” “People forget that the smartphone they hold was a $100 million science project in the 1990s. Biotech is heading the same direction.” “We need to fight the narrative that pharma is inherently bad. There are good actors, and we must do a better job telling those stories.” Key Takeaway Biotech isn't just a sector—it's a structural solution to some of humanity’s greatest problems. From disease treatment to environmental restoration, the converging forces of AI, genetics, and biological engineering make this the most consequential time in science since the industrial revolution. Connect With Us Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 350 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

This is our fourth installment in our new Mock Genetic Counseling Session Series! In this episode, cardiac and pediatric genetic counselor Monisha Sebastin and student Avital Habshush perform a mock genetic counseling session. The session indication is a family history of sudden death. This session was recorded in-person, providing a more dynamic and engaging learning experience therefore, we highly recommend watching it on YouTube to fully immerse yourself in the interaction. We hope this series is helpful for prospective and current genetic counseling students, as well as the general public, by demystifying the genetic counseling process. Understanding how these sessions work can empower individuals and provide valuable educational insights into this critical healthcare service. Survey for Monisha Sebastin's Global Genomics Services Directory We want to take this opportunity to announce a project of Monisha Sebastin’s aimed at improving global access to genetics and genomics services, and they need your help! Monisha Sebastin and her team have been working on the Global Directory of Genetics Professionals, a centralized platform to connect providers across the globe and streamline care for patients, especially those requiring cross-border genetics services. We’re reaching out to genetics providers like YOU to gather data and contact information for this invaluable resource. If you’re a genetics professional, please take a few moments to fill out the survey and ensure your inclusion in the directory. It took our host Kira Dineen 6 minutes to fill out the survey. Your participation will help foster better connections in genomics care worldwide, benefiting both providers and patients alike. So please, take the 6-minute survey here. The Actors: Monisha Sebastin, MS, CGC, (she/her) is Senior Genetic Counselor, Pediatrics at the Children's Hospital at Montefiore Einstein. In addition to providing genetic counseling services in genetics clinics, Sebastin specializes in rare diseases, cardiovascular genetics and immunogenetics. In 2018, she earned her Master of Science from Sarah Lawrence College. Sebastian has won multiple prestigious awards including the National Society of Genetic Counselors’ (NSGC) 2024 Audrey Heimler Special Projects Award and the 2022 Heart of Genetic Counseling Award in 2022. We caught up with her right after her win on Episode #212 of DNA Today. Sebastin has been principal investigator and contributor to several research projects, and her work has been published in numerous peer-reviewed journals. Her leadership roles include serving as the 2024 President of the New York State (NYS) Genetics Task Force, co-chairing the International Special Interest Group (ISIG) at the NSGC, among many other roles. Avital Habshush (she/her) is currently in her second and final year in the Human Genetics Program at Sarah Lawrence College training to be a genetic counselor. Habshuch is a graduate of Yeshiva University with a B.S. in Biology. She previously served as a genetic testing coordinate at Dana-Farber cancer Institute. The premise of this mock case was Habshush’s work as part of her internship with DNA Today. Mock Cardiac Genetic Counseling Session Outline Indication: 30y AFAB referred to genetics by cardiologist for suspected hereditary LQT syndrome. The patient recently fainted during an exercise class and has a family history of fainting and sudden cardiac death. See cardiology evaluation summary attached. Patient’s Name: Lev Loveheart Cardiac Evaluation: Resting ECG obtained today shows sinus bradycardia (59 bpm) with prolonged QTc of 495 ms (Bazett). T-wave morphology is broad-based without ischemic changes. Electrolytes and TSH are within normal limits. A 14-day ambulatory ECG monitor (Zio patch) is pending. Given the syncopal event, prolonged QTc, and strong family history—including emotion-triggered syncope—the presentation raises concern for congenital Long QT Syndrome, likely type 2 (LQT2). Contracting Introduction Understanding the referral: personal history of fainting and family history of fainting and sudden cardiac death Overview of the session Setting expectations and goals Questions Medical History Fainted “only a handful of times” estimates about 4 times in her lifetime First time fainting was in second grade due to startling Family History Brother: died at age 25 while running Maternal: family history not significant Paternal Aunt 55 who faints a lot, very emotional Grandfather died at 45 due to heart attack Grandmother died of old age 90 Ancestry: Ashkenazi Jewish and Yemen Patient education Overview of genetics Explaining Long QT Syndrome and how this might explain family history Risk assessment Explain how family history factors in to your calculation Which genes/syndrome would you test for? Who is the best person to be tested? Shared Decision Making Explain the type of testing Explain the 3 types of results Asking the patient if they are interested in testing? GINA Recommendat

THIS IS PART TWO, go back and listen to Episode #345 for the first half of this conversation. The co-founders of The Science Underground rejoin our host Kira Dineen for the second part of their conversation continued from Episode #345. This episode was also recorded in-person and discusses the importance of effective science communication in genetics and approaches to achieve this. The Science Underground was founded by former NIH’s National Human Genome Research Institute communicators Jenny Montooth, Sarah Alex Bates, and Britny Kish. Topics Discussed: The Importance of Effective Science Communication The Role of Humor and Pop Culture in Science Creativity in Science Communication Navigating Timeliness vs. Depth in Storytelling The Y Chromosome: Myths and Misconceptions Communicating Complex Genetics to Diverse Audiences Celebrating Scientific Achievements: The T2T Project The Importance of Teamwork in Big Science Learning from Communication Failures Effective Strategies for Science Communication Advice for Scientists on Public Engagement Engagement and Community Building The Panel: Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement—work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English. Jenny Montooth is a science communications professional with a decade of experience making complex research engaging and accessible through innovative, culturally relevant strategies. She holds a master’s degree in public history from the University of Maryland, Baltimore County, where she developed a passion for translating scholarship for broader audiences. As co-founder of The Science Underground, LLC, and former Lead Public Affairs Specialist at the National Human Genome Research Institute, Jenny has led nationally recognized outreach campaigns—including on the first complete human genome sequence- and earned multiple awards for her dynamic use of social media to bring science into the public conversation. Britny Kish is co-founder of The Science Underground, leading administrative and financial operations to support the development of culturally aware, results-driven communications strategies for scientific organizations. Most recently, she served as Deputy Director of Communications at the National Human Genome Research Institute (NHGRI), where she oversaw operations, budgeting, and campaign implementation, and played a key role in advancing equitable science communication and digital outreach. With over 15 years of experience in healthcare administration and communications, Britny specializes in program management, team leadership, and strategic communications, with additional expertise in virtual and exhibit event planning and management within the biomedical research space. Resources/Links Mentioned: Kira Dineen’s Invited NIH Talk: “Mastering the Mic: Interview Strategies for Science Communicators” NHGRI’s Telomere-to-Telomere (T2T) NHGRI’s Pangenome Project NHGRI’s “How to Sequence a Human Genome in 7 'Easy' Steps!” Full Video TIME100: The Most Influential People of 2025 “The Complete Sequence of a Human Y Chromosome” Nature Paper 2023 DNA Today Referenced/Relevant Episodes: #34 Henrietta Lacks Relatives Interviewed About Their Grandmother’s Cells’ Impact #182 Eric Green on the Complete Human Genome Project #183 Dr. Miga and Dr. Phillippy on the Telomere to Telomere (T2T) Consortium #100 Carl Zimmer on Human Heredity #214 2022 Genetics Wrapped with Eric Green #260 PhenoTips: Population Genomics in Clinical Practice (with Dr. Eric Green) #266 Genetics Wrapped 2023 with Dr. Eric Green #287 Familial Hypercholesterolemia with Jess and NIH’s Julie Sapp #306 NIH’s Dr. Francis Collins’ Leadership in the Human Genome Project and COVID-19 #318 Genetics Wrapped 2024: Top Advances in Genomic Medicine (with Dr. Eric Green) Most importantly check out The Science Underground! If you have genetics research or a project you are trying to inform people about Britny, Jenny and Alex are THE people to work with. They have already been helping us out at DNA Today and our new podcast network, Gene Pool Media. You can follow them on social media

Bioethicist Dr. Madison Kilbride is interviewed by Sarah Lawrence College genetic counseling student Shaun Miller. This is part of Shaun’s internship with DNA Today. At the University of Utah, Madison Kilbride is Assistant Professor of Philosophy specializing in bioethics. Her research focuses on ethical implications of genetic testing, particularly direct-to-consumer (DTC) genetic testing, genetic privacy, and family obligations around genetic information. Her work has been published in top journals, including Journal of American Medical Association, Journal of Clinical Oncology, Hastings Center Report, the American Journal of Bioethics, and the Journal of Medical Ethics. From the ethical limits of DTC genetic testing to the complexities of breaching confidentiality to warn at-risk relatives, in this episode Dr. Kilbride dives into some of the most pressing debates in modern medical ethics. In this conversation, we explore: Why Dr. Kilbride, a philosopher by training, was drawn to ethical issues in genetics How direct-to-consumer (DTC) genetic testing has evolved, and the “Goldilocks problem” of too-narrow vs. too-broad test panels What consumers misunderstand about the limitations of tests like 23andMe’s 3-variant BRCA screen Dr. Kilbride’s personal experience with a variant reclassification and the ethical duty of testing companies in communicating critical updates The “principle of rescue” as an ethical framework for when patients should share genetic results with family members Whether patients have a moral duty to get tested in the first place — particularly if family members might benefit Ethical implications of sharing information about non-Mendelian or multifactorial traits like autism or diabetes Pushback against the idea that genetic data is “inherently familial,” and why this philosophical distinction matters When (if ever) healthcare providers should breach patient confidentiality to warn relatives at risk of a genetic condition Ethical criteria for deciding whether breaching confidentiality is justified Why insurance companies should treat IVF with preimplantation genetic testing (PGT) as medically necessary How IVF-with-PGT compares to preventive care models like cancer screening Advice for genetic counselors navigating family disclosure and autonomy tensions Predictions for the future of genetic testing and what ethical frameworks need to evolve now Mentioned Articles by Dr. Kilbride: Dr. Kilbride shares insights from her recent peer-reviewed publications, highlighting the importance of balancing patient autonomy with broader familial and societal responsibilities in genetics. On the limits and need to improve DTC testing: "The Need to Improve the Clinical Utility of Direct-to-Consumer Genetic Tests: Either Too Narrow or Too Broad" JAMA 2020 "Ethical Implications of Direct-to-Consumer Hereditary Cancer Tests" JAMA Oncol 2018 "Evaluating Web-Based Direct-to-Consumer Genetic Tests for Cancer Susceptibility" ASCO 2020 On the principle of rescue and duty to warn family members: "Genetic Privacy, Disease Prevention, and the Principle of Rescue" Hasting Cent Rep 2018 On breaching patient confidentiality under ethical conditions: "Breaching Confidentiality in Genetic and Non-Genetic Cases: Two Problematic Distinctions" AJOB 2024 On expanding insurance coverage for IVF with PGT: “In vitro fertilisation with preimplantation genetic testing: the need for expanded insurance coverage" J Med Ethics 2020 Want to read even more from Dr. Kilbride? Search her full list of publications on PubMed here. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 340 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead and Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

Prenatal screening has transformed over the past decade, with Non-Invasive Prenatal Testing, or NIPT, becoming a go-to tool for early risk assessment. But even as adoption increases globally, we’re still facing real gaps, from limited condition coverage to a lack of support in interpreting results. On this episode, I’m joined by Dr. Fred Ushakov, a renowned fetal medicine expert based in London. We are going to explore how NIPT is evolving and how a next-generation screening tool like Fulgent’s KNOVA is pushing the boundaries of early detection. We’ll also dive into how structural scans and single-gene conditions factor into smarter screening strategies, and what patients and providers alike need to know when choosing the right test. What We Cover in This Episode: The current state of NIPT access and adoption in the UK (public vs. private healthcare) Clinical blind spots in traditional NIPT; and how they impact patients How KNOVA is expanding prenatal screening with 56 genes, associated with 30+ monogenic conditions Why structural ultrasound and NIPT are complementary tools, not replacements How the SMART Test® NIPT algorithm enhances precision and timing of risk detection Early detectable conditions on KNOVA (e.g., Noonan syndrome, skeletal dysplasias) Conditions not typically visible on ultrasound (e.g., Rett syndrome, CHARGE) What providers and patients should know when considering an expanded NIPT Dr. Ushakov’s insights on the future of prenatal screening innovation We want to thank Fulgent for sponsoring this episode. All of our episodes, including this one, are for informational purposes only and do not constitute medical advice. Please consult a healthcare provider for personalized guidance. KNOVA is a screening test and not diagnostic. All results should be confirmed with diagnostic testing and interpreted with the support of a healthcare provider like a genetic counselor. More on Our Guest: Dr. Fred Ushakov is the Founder and Managing Director of London Pregnancy Clinic (formerly City Ultrasound.) He has more than 35 years’ medical professional experience and was working in obstetrics and gynaecology, fetal medicine and ultrasound. In the UK Fred is working in Fetal Medicine and specialising in Fetal Anomalies. He also works at the UCLH Fetal Medicine Unit, having gained recognition as the most skilled ultrasound operator. Dr. Ushakov founded the London School of Ultrasound, where he has lectured doctors and sonographers from more than 100 countries. He founded the Early Fetal Scan Conference, a scientific event that seeks to raise awareness among professionals to recognise and manage different fetal abnormalities at earliest stages of gestation. Furthermore, Dr. Ushakov served as an Ambassador of the International Society of Ultrasound in Obstetrics and Gynaecology (ISUOG) in 2014-2020. He has a particular interest in the training and support of doctors and sonographers in other countries to help them to protect and preserve the health of mothers and unborn babies. Dr. Fred Ushakov is graciously donating his time to be a guest on the show to share his authentic experience with KNOVA and is not a paid consultant by Fulgent. Relevant or Referenced Links: Dr. Fred Ushakov’s London Pregnancy Clinic Fulgent’s KNOVA NIPT The SMART Test® NIPT DNA Today Episode #317 Prenatal Mock Genetic Counseling Session Get ready, genetic nerds—another brand-new episode of DNA Today drops on Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 340 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

To celebrate the end of Pride month, we are sharing this episode of the PhenoTips Speaker Series, which was hosted by our own, Kira Dineen. The current rise in structural hostility towards transgender and gender diverse individuals highlights the importance of appropriate and affirming care for this medically marginalized community. In cancer genetics, specific factors such as medical transition and psychosocial impacts alter the approach to, and requirements of, genetic counseling for trans patients. To support the unique needs of trans and gender diverse patients in hereditary cancer genetic counseling, this episode of the PhenoTips Speakers series features an international panel of cancer genetic counselors with advocacy and research specialties in inclusive genetic counseling practices for LGBTQ+ patients. The PhenoTips Speaker Series is one of many podcasts in our brand new science podcast network called Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series Two brand new shows debuting later this year If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at [email protected]. I’d love to chat with you about the benefits of joining the network. On This Episode We Discuss: Risk considerations for trans and gender diverse cancer genetic counseling patients Creating safe and inclusive environments in cancer genetic counseling Protecting patients during times of unprecedented legislation Resources and methods to support trans and gender diverse patients The Panel: Kimberly Zayhowski, MS, CGC (she/her), is a genetic counselor, researcher, and assistant professor at Boston University Chobanian & Avedisian School of Medicine. She earned her Master’s in Human Genetics and Genetic Counseling from Stanford University School of Medicine and was one of the inaugural research fellows in the GC-FIRST program at the University of Minnesota. Her research focuses on LGBTQIA+ care, and specifically, the intersection of gender-affirming care and cancer genetics, with an emphasis on community-engaged research to improve clinical practices. Kim was awarded the Jane Engelberg Memorial Fellowship for her work in this area. She also serves on the Editorial Board for the Journal of Genetic Counseling as a Deputy Editor and a Director of Diversity, Equity, and Inclusion Integration. In recognition of her contributions to the field, she received the AGCPD Outstanding Clinical Supervisor Award in 2021 and the NSGC Leader in Cultural Advocacy Award in 2022. Josephine Giblin (she/her/hers) is an NHS genetic counsellor working in Bristol, in the South West of England with an interest in barriers that LGBTQIA+ patients face in accessing genetics care. In the last few years, she has been particularly focused on trans and gender diverse patients with inherited cancer predisposition, leading a project to better equip genetics services to meet the needs of these patients. Recently Josephine worked with the UK Cancer Genetics Group to develop the first UK recommendations for the management of trans and gender diverse patients with inherited cancer risks. Diane Koeller (she/her/hers) is a senior genetic counselor in the Division of Cancer Genetics and Prevention at Dana-Farber Cancer Institute in Boston, MA. She completed her MS in Genetic Counseling and MPH in Health Behavior and Health Education at the University of Michigan in Ann Arbor in 2016. She provides clinical genetic counseling for individuals and families with hereditary cancer risks. Diane collaborates on research studies in a variety of areas including hereditary lung cancer, LGBTQIA+ inclusive care, and genetic counseling and testing implementation in low resource settings. She is involved in education and advocacy focused on healthcare equity for transgender and gender diverse individuals. She is a co-founder and former co-chair of the Gender-Inclusive Subcommittee of the National Society of Genetic Counselors Cancer Special Interest Group. Resources and further reading: Navigating sexual orientation and gender identity data privacy concerns in United States genetics practices NSGC Policy Statement: Distinguishing Sex and Gender to Reduce Harm TGD CanScreen Project Canadian Resource: Queering Cancer CoppaFeel: UK patient resource with gender based language selection PhenoTips for Cancer Genetics Tools: LGBTQIA+ inclusive tools for cancer genetics and genetic counseling Book a PhenoTips One-on-One Meeting Relevant DNA Today Episodes: #190 PhenoTips: Gender Affirming Care in Genetic Counseling #212 NSGC Recap 2022 (Amplify Sprouted for Gender Inclusive Cancer Genetic Counseling) #213 Co

We’re kicking off Season 2 of #ThroughTheGenes with a powerful and personal episode in honor of World Sickle Cell Day, which was commemorated yesterday on June 19th. This podcast isn’t just about science, it’s about storytelling through the lens of lived experience. Hosted by three uniquely different women who have experience with transformative therapies for sickle cell disease, this season celebrates the sisterhood they’ve built through vulnerability, advocacy, and the desire to push the conversation forward. If you’ve been following along, you’ll remember Episodes #288 and #289 of DNA Today, where our host Kira Dineen sat down with Victoria Gray, the first person treated with CRISPR for her Sickle Cell Disease symptoms. Her story is one of remarkable resilience and groundbreaking science. Then on Episode #305, she also spoke with the original co-hosts of #ThroughTheGenes, Wunmi Bakare and Dima Hendricks, two powerful patient advocates whose insight, honesty, and unwavering commitment have helped shape how we understand cell and gene-based therapies for sickle cell today. This Season 2 opener sets the tone for what’s ahead. It’s a raw and reflective conversation that unpacks the triumphs and trials of transformative care, while shining a light on the emotional weight of medical decision-making. Through three distinct journeys, we find one undeniable truth: the power of shared experience can create bonds that feel like family, and fuel advocacy that moves scientific storytelling forward. We’re also thrilled to share that #ThroughTheGenes is part of our new science podcast network: Gene Pool Media! We're building a home for engaging, credible, and diverse science storytelling. Check out our growing lineup of shows: DNA Dialogues Demystifying Genetics RealPharma Beyond The Thesis with Papa PhD It Happened To Me All Access DNA PhenoTips Speaker Series ...and two brand-new shows launching later this year! If you host a science podcast and want to be part of a collaborative network that amplifies your voice, go to GenePoolMedia.com and click the “Apply” tab, or just shoot me an email at [email protected]. We’d love to chat with you about what we’re building. In this season 2 premiere of #ThroughTheGenes, hosts Wunmi Bakare, Dima Hendricks, and Christelle Salomon engage in a heartfelt discussion about their personal journeys with sickle cell disease and the transformative therapies they have explored. They share their motivations for seeking experimental treatments, the emotional and physical challenges they faced, and the importance of mental health and self-care. The conversation highlights the resilience of sickle cell warriors and the impact of their experiences on their identities. The episode concludes with a light-hearted quickfire round, reinforcing the bond among the speakers and their commitment to patient advocacy. Takeaways Conversation kicks off with an authentic conversation about cell and gene-based therapies. Dima shares her journey with sickle cell and the challenges faced during her treatment. Christelle discusses her motivations for exploring gene therapy and the impact on her life. The importance of mental health and self-care is emphasized throughout the conversation. Each speaker shares their unique experiences with transformative therapies, highlighting both triumphs and trials. The discussion reveals the emotional and physical challenges faced during treatment processes. The concept of freedom is explored as a central theme in navigating life with sickle cell disease. The speakers reflect on their identities as sickle cell warriors and the ongoing journey of living with the condition. The conversation addresses misconceptions about gene therapy and the realities of patient experiences. The podcast concludes with a light-hearted quickfire round, reinforcing the bond among the speakers. Subscribe to #ThroughTheGenes on Apple, Spotify, YouTube or wherever you listen to podcasts. Next episode of season 2 drops on July 3rd, 2025. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAToday.com. Questions/inquiries can be sent to [email protected].

The co-founders of The Science Underground join our host Kira Dineen for an in-person episode to discuss the importance of effective science communication in genetics and approaches to achieve this. The Science Underground was founded by former NIH’s National Human Genome Research Institute communicators Jenny Montooth, Sarah Alex Bates, and Britny Kish. Topics Discussed: Strategies for making complex genetics concepts accessible to the public The role of humor, memes, and social media in building engagement and trust Challenges of communicating abstract genetic topics and foundational genomics knowledge Reflections on progress in public genomic literacy since the Human Genome Project Disparities in genetics understanding across different socioeconomic and educational backgrounds The critical role of storytelling in science communication Using creative media to preemptively address misconceptions Building public trust in genetics by acknowledging historical injustices and systemic biases Importance of transparency, community collaboration, and ethical considerations in genomic research Engaging underrepresented and Indigenous communities in genetic research conversations Evolving role of research participants: from subjects to true partners in science Cultural sensitivity around ancestral DNA and the emotional weight it carries The misconception that complex science can't be simplified for broader audiences Practical advice for scientists: use analogies, creativity, and empathy to communicate effectively The Panel: Alex Bates is a science communications expert with 20 years of experience leading national, metric-driven campaigns across government, nonprofit, and startup sectors. She is co-founder of The Science Underground, LLC, which crafts culturally competent, science-backed communications for early-stage startups and major consortia. Most recently, she served as Communications Director at the National Human Genome Research Institute (NHGRI), where she led award-winning outreach on topics like the history of eugenics and helped establish NHGRI’s global reputation for innovative public engagement—work that ended with the April 1 HHS layoffs. Alex previously led communications for the National Science Foundation’s Engineering Directorate and BRAIN Initiative, earning Director’s Awards for both Excellence Pioneer and Diversity and Inclusion, and managed BrainFacts.org, a $1.2M science education initiative. She holds master’s degrees in journalism and astronomy, and a bachelor’s degree in physics and English. Jenny Montooth is a science communications professional with a decade of experience making complex research engaging and accessible through innovative, culturally relevant strategies. She holds a master’s degree in public history from the University of Maryland, Baltimore County, where she developed a passion for translating scholarship for broader audiences. As co-founder of The Science Underground, LLC, and former Lead Public Affairs Specialist at the National Human Genome Research Institute, Jenny has led nationally recognized outreach campaigns—including on the first complete human genome sequence- and earned multiple awards for her dynamic use of social media to bring science into the public conversation. Britny Kish is co-founder of The Science Underground, leading administrative and financial operations to support the development of culturally aware, results-driven communications strategies for scientific organizations. Most recently, she served as Deputy Director of Communications at the National Human Genome Research Institute (NHGRI), where she oversaw operations, budgeting, and campaign implementation, and played a key role in advancing equitable science communication and digital outreach. With over 15 years of experience in healthcare administration and communications, Britny specializes in program management, team leadership, and strategic communications, with additional expertise in virtual and exhibit event planning and management within the biomedical research space. Resources/Links Mentioned: Kira Dineen’s Invited NIH Talk: “Mastering the Mic: Interview Strategies for Science Communicators” “Public Knowledge of and Attitudes Toward Genetics and Genetic Testing” in Genetic Testing and Molecular Biomarkers Telomere-to-Telomere (T2T) The Star Wars meme that started it about clarifying T2T NHGRI symposium confronts difficult pasts of eugenics and scientific racism Dorothy Roberts’ Books Informing the Navajo Public about Genetic Research and Policy “Weaving the Strands of Life (Iiná Bitł’ool): History of Genetic Research Involving Navajo People” in Human Biology NHGRI’s Human Genome Fact Sheet “Haunting the Human Genome Project: A Question of Consent” in Undark Magazine “The Immortal Life of Henrietta Lacks” By Rebecca Skloot The Tuskegee Syphilis Study NIH’s Tribal Health Research Office BRAT Summer Meme aka Bring RNA Attention Today DNA Today Referenced/Relevant Episodes: #34 Henrietta Lac

We wanted to let you know of a live podcast episode of the PhenoTips Speakers Series happening soon on June 18th, 2025 at 12pmEST. We do an annual pride installment, this year we are exploring Gender Affirming Cancer Genetic Counseling. Sign up here so you can tune in and ask your questions live to host Kira Dineen and the impressive panel we have lined up. Have you heard? I launched a brand new science podcast network called Gene Pool Media. Thanks to everyone who has supported the network by following us @GenePoolMedia on social. Shoutout to the podcasts in our network, you should check them out! RealPharma Beyond The Thesis with Papa PhD DNA Dialogues It Happened To Me All Access DNA #ThroughTheGenes Demystifying Genetics PhenoTips Speaker Series Two brand new shows debuting this year If you have a science podcast and are interested in joining the network, go to GenePoolMedia.com and click the “Apply” tab at the top right. Or just email me directly at [email protected]. I’d love to chat with you about the benefits of joining the network. Here and there we have been sharing episodes from other podcasts in the Gene Pool Media network. This week we are sharing a segment from a recent episode (#15) of DNA Dialogues, which is the official podcast of the Journal of Genetic Counseling. Our host Kira Dineen, was lucky enough to be on the team that launched the show last year. Here’s what is unique about this show, each episode of this podcast two papers from the journal are highlighted through interviews with the authors themselves. We picked this segment to share in honor of Pride month as it explores the paper “Transgender and gender diverse patients' experiences with pregnancy-related genetics discussions: A qualitative study”. The two authors of the study join for this interview: Jaime Schechner and Darius Haghighat. Jaime Schechner (she/her) works as a neurology genetic counselor at Boston Children’s Hospital. She completed her Master of Science in Genetic Counseling at Boston University, and previously worked as a genetic counseling assistant at Beth Israel’s Maternal Fetal Medicine Center. Darius Haghighat (he/him) is a reproductive genetic counselor at Boston Medical Center and an Assistant Professor of Obstetrics and Gynecology at Boston University Chobanian & Avedisian School of Medicine. He has prior experience as a cancer genetic counselor as well. He completed his Master's in Genetic Counseling at Boston University. As a queer genetic counselor he is especially passionate about LGBTQIA+ health equity. In this segment Kate, Darius, and Jaime discuss: - The inspiration behind focusing the study on pregnancy-related genetic counseling experiences among trans and gender diverse (TGD) individuals. - Major gaps in reproductive healthcare for TGD patients, including misgendering, binary language, and lack of provider knowledge. - Participant stories about feeling unseen or misgendered, and discussed the emotional impact of these encounters. - Frustrations with terms like "maternal" and "advanced maternal age," and suggested inclusive alternatives for clinical language. - Moments of affirming care, showing how small gestures can have a powerful impact across the healthcare journey. - The need for systemic change, including inclusive policies, provider education, and future research that centers TGD voices. Would you like to nominate a JoGC article to be featured in the show? If so, please fill out this nomination submission form here. Multiple entries are encouraged including articles where you, your colleagues, or your friends are authors. Be sure to check out other episodes of DNA Dialogues by searching “DNA Dialogues” in your favorite podcast app or here. Check out the Journal of Genetic Counseling here for articles featured in this episode and others. Any questions, episode ideas, guest pitches, or comments can be sent into [email protected]. DNA Dialogues’ team includes Jehannine Austin, Naomi Wagner, Khalida Liaquat, Kate Wilson and our own, Kira Dineen. Our logo was designed by Ashlyn Enokian. Get ready, genetic nerds—another brand-new episode of DNA Today drops this Friday! You can always count on us to deliver fresh content every Friday. While you wait, why not dive into our library of over 300 episodes? Binge them all on Apple Podcasts, Spotify, our website, or wherever you love to listen—just search “DNA Today.” Prefer watching? We’ve got you covered! For the past four years, we’ve been recording episodes with video, including some filmed at the iconic NBC Universal Stamford Studios. Check them out on our YouTube channel! DNA Today is hosted and produced by Kira Dineen, MS, LCGC, CG(ASCP)CM . Our Video Lead is Amanda Andreoli. Our Social Media Lead is Kajal Patel. Our Outreach Intern is Liv Davidson. And our logo Graphic Designer is Ashlyn Enokian, MS, CGC. See what else we are up to on Instagram, X (Twitter), BluSky, Threads, LinkedIn, Facebook, YouTube and our website, DNAT