Behind the Genes

In this explainer episode, we’ve asked Helen Brittain, Clinical Lead for Rare Disease Diagnostics at Genomics England, to explain what a variant of uncertain significance is, in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected]. You can download the transcript or read it below. Naimah: What is a variant of uncertain significance? Today I’m joined by Helen Brittain, who’s the clinical lead for rare disease diagnostics at Genomics England, to find out more. So first of all, Helen, before we dive into the topic, I’d like to go one step further back and ask you to explain what is a gene? Helen: A gene is effectively a section of our DNA, which is our genetic code, and it contains an instruction, something important about how we grow, how we develop, how we function as a human. Humans in total have around 20,000 genes, which is our complete set of instructions, to tell us everything we need to know about ourselves. Naimah: So, what are gene variants then, and do they all have an effect? Helen: Variants are effectively differences within genes. So genes, like I said, are instructions, and they have a particular way that they’re spelled out and structured, so that the body can understand them and make sense of that instruction. A variant is where there’s something different about the way that that gene is spelled out or structured that could affect how it works, and basically a variant is a difference to what we expect to see. Naimah: And do all of these have an effect? Helen: So no, not all of them will have an effect. Some differences or variants within a gene may not affect the way it works at all, whereas others might alter that gene so significantly that it can’t do its job anymore, and could be very significant for that person’s health. Naimah: And how do we find these gene variants? Helen: Gene variants are exactly what we’re looking for when we’re trying to find a diagnosis for somebody. So, somebody with a rare condition is likely to have an underlying difference within their genes that would be the explanation for it. We’re finding these through doing genetic testing or genomic testing, so looking at an individual gene, a series of genes, or even across someone’s entire genetic code, through whole genome sequencing, and we find these variants through doing that testing. Naimah: And this might be a good opportunity to mention our other Genomics 101 episode on genetic testing, if you’d like to find out some more information on that as well. So, moving on with the next question, how is a variant’s significance determined? Helen: Variants, as we say, come from the genetic tests we undertake, and there are a team of people who look at and try to determine what effect that variant might have on that person. This is the majority of the time the work done within the laboratory teams, through the clinical scientists, who have expertise in understanding the impact of variants within a gene, and they work together with other clinical representatives, like the clinician looking after the patient, to understand that patient’s disease in as much detail as they can, to try to pull all of the information together and determine whether that variant is making a difference or not. They would look at a lot of different pieces of information to try to work out, could this be the reason behind that person’s genetic disorder? And that might be things like have we seen it before, can we predict the effect of that variant on the gene? And we have to understand how variants within that gene cause a condition to be able to match up against the variant that’s seen, as to whether that would make sense for that individual. So, it’s a lengthy process but an important one, to make sure that we’ve got the most accurate information about that variant, and the understanding about that in that person’s health and development. Naimah: So then, what would be a variant of uncertain significance? Helen: So, the output of that clinical scientist’s work looking at whether a variant is significant or not comes out into five categories, but three main groupings. What we’re looking for obviously through doing genetic testing is to try to find a diagnosis for somebody, and a diagnosis would be a place where we are confident that that variant impacts on that gene and leads to the condition that that person is presenting with. So, that would be a diagnosis on one end of the spectrum of what we might find. On the very other end of the spectrum are variants that don’t make an effect on the gene, that would be benign. We would call those harmless variants, things that don’t change the gene and wouldn’t be expected to be associated with a condition. And then, in life there’s always a grey area, and the part in the m

29 February marks Rare Disease Day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. In this episode of the G Word, our host Julia Vitarello, Founder and CEO of Mila’s Miracle Foundation, is joined by Rich Scott, Interim CEO for Genomics England, and Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England, as they discuss challenges for those living with a rare condition and the work being carried out across the genomics ecosystem to support them. Julia is the mother of Mila, a young girl who was diagnosed with a rare genetic condition called Batten Disease, and in this episode Julia takes us through Mila's story, and how she hopes to help many more families access treatments for their children. "So when parents, children, are diagnosed whether it’s a fatal or life-longing debilitating or difficult disease, if you know that what’s being learned from your child both from just the genomics to the potential treatments that’s helping the next child, that helps parents like me be able to continue living." You can find out more about Mila's story in our previous podcast episode with Rich Scott, Julia Vitarello and Dr Tim Yu. You can download the transcript or read it below. Julia: Welcome to the G Word So my life at that point seemed to just disappear in that moment, all the things that had mattered to me were gone; I knew there was something wrong with my daughter but I had absolutely no idea that a typical child who was outgoing and active and verbal and had friends could suddenly lose all of her abilities and die. My name is Julia Vitarello, and I’m your host for today’s episode. Today joining me in conversation is Rich Scott, Interim CEO for Genomics England, and Ana Lisa Tavares, Clinical Lead for Rare Disease Research, also at Genomics England. Today we’ll be discussing challenges for those living with a rare condition and the work being carried out across the genomics ecosystem to support them. If you enjoy today’s episode, please like, share and rate the G Word on wherever you listen to your podcasts. The 29th of February marks rare disease day. This day is an opportunity for the rare community to come together to raise awareness of the common issues affecting those living with rare conditions. A rare condition is a condition that affects less than one in 2,000 in the population, and although rare conditions are individually rare they are collectively common. It is estimated that there are over 7,000 rare conditions. Around 80% of rare conditions have an identified genetic origin. Before I get into speaking with Rich and Ana Lisa, I wanted to share my story and my daughter, Mila’s, story. My life as a mother started really like anyone else’s, my daughter was perfectly healthy, her name is Mila. For the first three or four years of her life she was like any other kid. I live in Colorado in the United States, my daughter was a skier, she was a hiker, she was rock climbing, she was incredibly active and singing songs and swimming and riding bikes. But around four years’ old she started tripping and falling, she started pulling books and toys up closely to her face; she started being covered in bruises, getting stuck on words and repeating her sentences and I brought her to about 100 different doctors and therapists around the United States to try to figure out what was going on with her. Around four years’ old I started speaking with orthopaedic surgeons, with ophthalmologists, with neurologists, with speech therapists and each one of them, you know, told me pretty much that I was a crazy mom and that my daughter was typical and normal and that she would grow out of these sort of strange symptoms that she was having. By the time that she was six years’ old, I had had enough and I was crying on a regular basis, no doctor could help me and I was tired of lugging my daughter, who was now covered in bruises and tripping and falling and stuttering, together with my newborn son at the time, kind of around the country only to be told that I was crazy. And at that point at six years’ old I brought her into the emergency room in the Children’s Hospital Colorado, near where I live. She was in there for about a week and underwent a battery of tests and at the end of that week I was told that my daughter had a rare genetic condition called Batten Disease and that she would lose all of her abilities and die in the next few years. So my life at that point, first four years of my life seemed to just disappear in that moment, all the things that had mattered to me were gone. I knew there was something wrong with my

In this explainer episode, we’ve asked David Bick, Principal Clinician for the Newborn Genomes Programme at Genomics England, to explain more about the Generation Study, in less than 10 minutes. For more information you can listen to our podcast episode where David discusses the conditions that we will initially look for in the study. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected]. Want to find out more? Check out the blog 'Genomics 101: What is the Generation Study?' You can download the transcript or read it below. Naimah: What is the Generation Study? I'm Naimah Callachand, and today I'm joined by David Bick, the principal clinician for the Newborn Genomes Program at Genomics England, and he's going to explain more. Okay, so first of all, David, please, can you tell me what is the generation study? David: The Generation Study is a research study organised by Genomics England in partnership with the NHS. So what is the study exactly? We know that children are born every day with treatable genetic conditions. What we want to do in this study is we want to find those children and treat them before they become sick. We know that if we can find these children early in life, we can keep them healthy. Naimah: Can you tell me a bit about how the study was designed? David: Yes, this study was designed to look for genetic conditions that are treatable, and we went about looking for which conditions to include through an extensive evaluation that involves specialists, laboratory specialists, the NHS and patients from different support groups. And through this process, we identified more than 200 conditions that are treatable, and we are including those in the study. Naimah: And David, you mentioned the conditions list there. You can also find an additional podcast on our website where you go into more detail as to why the conditions on that list were chosen initially for the study. Can you tell me how this fits in with the current newborn screening program? David: The current newborn screening program looks for a smaller number of conditions, nine conditions. It has been extremely successful and is an extremely important program, and so we're looking to see how our program could be an adjunct to the current screening process. Naimah: How would people take part in this study? David: What we're going to do is we're going to ask couples in mid-trimester, in the middle of pregnancy to join in the study, we're going give them a number of opportunities to learn about the study and those that sign up. We plan to obtain cord blood from the placenta after birth. And as you may recall, the placenta is discarded and so this cord blood would normally simply be discarded, but we can take this umbilical cord blood and test it for genes. We expect it to expand to perhaps 40 trusts across the country. Naimah: And David, the NHS is already under quite a lot of pressure at the minute. What will this study mean for the NHS? What impact will it have? David: That has been one of the main concerns as we went forward with thinking about the study was to make sure that we did not add additional burden to the NHS. But it's important to realise that the children that we're looking for already have the condition, they're going to become ill. And our plan is, our hope is that if we can find them before they become ill, we will actually relieve stress on the NHS system. Let me give an example. There is a condition called biotinidase deficiency. Here is a condition where the child who has it, is unable to recycle a vitamin called biotin. Well, biotin is something you can pick up at the health food store, and so these children. Need to be given extra biotin every day. Very, very inexpensive, very, very safe. But if you don't find these children before they become ill, they can become quite seriously ill. So if we can find these children before they get sick, get them started on this very simple, very inexpensive, very safe medication vitamin. In fact, this will actually save money for the NHS, but also help the NHS function more effectively. And most importantly, to allow parents to have the knowledge that they have done something for their child, which will prevent their child from becoming ill. Naimah: Some parents might want to know if their child's data is being kept safe. What are you doing to ensure this? David: Data safety is very important to us. We know that this information is extremely sensitive, and so our data protection is a very high priority. We're controlling very carefully who will have access to the data. There are groups that we do want to work with this data. We want researchers and the pharmaceutical industry to work with this data to improve treatments. We know that there are many, many genetic conditi

In January we saw experts from across the genomics ecosystem, including patients and those with an interest in genomics, gather at the Festival of Genomics - the UK's largest annual life sciences event. In this episode, our host, Vivienne Parry, Head of Engagement at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Professor Matt Brown, Chief Scientific Officer at Genomics England, to discuss the event and emerging future trends in genomics. In this episode you'll also hear some exciting future advances in genomics research from some eminent speakers at the Festival: Harold Sneider, Professor of Genetic Epidemiology, University Medical Center Groningen sheds light on the "Identification of methylation markers for Type 2 diabetes up to 10 years before disease onset." Nagy Habib, Professor of Surgery, Imperial College London, delves into "The future of saRNA therapeutics and its potential for treatment". Lennard Lee, National Clinical Advisor on innovation and cancer vaccines, presents his perspectives on "The Future of Cancer Vaccines," offering a glimpse into the promising advancements in this critical field. "The scientific breakthroughs that are being made are absolutely incredible and they’re really exciting, but from the point of someone living with a genetic condition, what they want to see is those scientific breakthroughs making a real difference in the clinics...For some conditions, it’s about treatments, but it’s also about being able to get a diagnosis faster, to be able to understand what condition is impacting on you, how it might affect you over your lifetime and your wider family, and to be able to work with NHS services to understand and plan for the care and treatment that you’ll need throughout your lifetime." You can download the transcript or read it below. Vivienne Parry: Hello and welcome to the G Word. The Festival of Genomics is the UK’s biggest genomics event, and it’s become an essential part of our year. It’s free for 90% of its delegates, it’s in person, and with more than 5,000 people expected, it’s now so big that it’s had to move to ExCel’s cavernous Dockland Halls. It’s the place to hear top science and to spot new trends, but actually for me the joy of the festival is the people you meet. Of course, it’s great to catch up with old friends, but it’s the new collaborations sparked by random encounters at the festival which I think are the lifeblood of the genomics ecosystem, and everyone with an interest in genomics is here, patients, clinicians from the NHS, researchers, industry, policymakers, and the G Word. What we thought we’d do is bring you a flavour of this great event from the floor of the ExCel halls, and give you a quick soundbite from three of the speakers that we felt best exemplify the future of genomics. With me to discuss the event and future trends in genomics, Professor Matt Brown, Genomic England’s chief scientific officer, and Louise Fish, CEO of the Genetic Alliance UK, which as its name suggests, is an alliance of over 200 organisations reflecting the needs and concerns of those affected by genetic conditions. My name’s Vivienne Parry, I’m head of public engagement at Genomics England, and I’m delighted to be your host for today’s pod from the Festival of Genomics. Welcome to you both. So, let’s start with you, Matt. How important is the Festival of Genomics for genomics in the UK? Matt Brown: Well, the Festival of Genomics has become a really key meeting for the genomics community in the UK, and I think increasingly in Europe as well. It’s a really large, high quality event that brings together commercial and academic and biotech companies in the one forum, and I think it’s a really exciting programme. Vivienne Parry: And of course, Louise, it’s open to patients as well, which makes it an unusual event. Louise Fish: Absolutely, and it’s brilliant to have patients and families here. So, people living with genetic conditions clearly need to be part of the debate when we’re talking about developing new services, and developing new treatments and diagnostics, so it’s absolutely fantastic to be able to come together in one room with people from the NHS and the broader sector. Vivienne Parry: And it’s grown enormously, and I guess that reflects, as much as anything else, just how exciting genomics is. Matt, I’m going to pin you to the ground [laughter] and say, why is it so exciting in genomics at the moment? Matt Brown: Look, the field’s really hitting its tracks. We’re seeing advances in technology, analytics, application in the clinical space, and of course booming commercial activity associated with that. But from a situation ten years ago, where we had research capability for using genomics to assist in diagnosis and cancer profiling, now we’re in a situation where we have multiple different approaches to assist with both of those things, transcriptomics, proteomics, spatial, single cell methods, optical mapping, a whole monopoly of

In this explainer episode, we’ve asked Ana Lisa Tavares, Clinical Lead for rare disease research at Genomics England, to explain what a rare condition is, in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected]. Want to find out more? Check out the blog 'Genomics 101: What is a rare condition?' You can download the transcript or read it below. Naimah: What is a rare condition? Today I’m joined by Ana Lisa Tavares, Clinical Lead for rare disease research at Genomics England, and she’s going to explain more. Ana Lisa: There are thousands of rare conditions. I hesitate to say a number as we’re learning all the time, so this keeps changing. There are estimated to be perhaps around 10,000 different rare conditions, as an order of magnitude. Many rare conditions start in childhood, 75% or three quarters affect children. A little over 10% affect adults, only adults, and some, around 20% can start in children or adults. Naimah: So, what makes a condition rare? Ana Lisa: A rare condition can be defined as affecting less than one in 2,000 people in the general population. This is a definition that’s used in Europe. Different parts of the world use slightly different numbers and definitions, so for example, the number of people with a rare condition living in that country, there isn’t one single universal definition. The important part I think is that this is a practical way to help shine a spotlight on rare conditions, which collectively affect a lot of people, and the particular challenges in making diagnoses and finding treatments for rare conditions. So together, it’s estimated 7% of people are affected by a rare disease in their lifetime, or one in 17, so that means that there are 3 and a half million people in the UK affected by a rare disease, and in the world, probably somewhere between 250 to 450 million people, so perhaps 350 million people, a really huge number. When you look into these numbers, there are rare conditions that are much more common than others. So, 80% of people with a rare condition have one of the 150 most commonly occurring rare conditions. Cystic fibrosis would be an example that many people will have heard of, and if you look at those numbers from a different angle, 85% of rare conditions affect less than one in a million people, so are very rare, and it’s important to bring together these different voices to solve some of the common challenges. Naimah: Can you explain to me how these differ from more common conditions? Ana Lisa: The simplest answer is that they are defined by the frequency, so how often they happen in the general population, and one reason for grouping together thousands of rare conditions is to highlight some of the particular challenges. This includes delays in getting a correct diagnosis that can often take years, an increased chance of a misdiagnosis before getting to an accurate diagnosis, and treatment challenges, as 95% of rare conditions don’t have a specific treatment. This is a very good question, and I would like to note that it’s also an artificial distinction to some extent. So, human conditions have a range of underlying causes that can be broadly grouped together, including genetic and environmental, such as a viral infection. However, it gets complicated, for example, a proportion of common conditions that may have many different causes will have a genetic component, so for example causing an early onset familial form of a condition, such as diabetes. And in fact, genetic causes may give or can give the clue or the key that’s necessary to develop a new drug therapy that can then help many people with the condition, so those that may have a rare genetic cause and those that have a more common cause, such as for high cholesterol. So, one other way that rare and common conditions can differ, not just based on frequency, is the causes of those rare conditions and common conditions. I’ll start by saying that there are lots of rare conditions that aren’t genetic, and there are common conditions that do have a genetic basis, so none of these observations are absolute, but there’s a spectrum of different causes for rare and common conditions. So, I would say there are more rare conditions that are caused by a single genetic cause, and there are more common conditions that might be caused by many very small genetic effects acting together, and also many different environmental causes. Naimah: So, are rare conditions always genetic? Ana Lisa: The short answer is no. Many rare conditions do have a genetic cause, perhaps 70 to 80% of rare conditions, so if you had 10 people with different rare conditions together in a room, the chances are that 8 of them will have a genetic component to their rare condition. And when we talk about

On this episode, we delve into the promising advances that artificial intelligence (AI) brings to the world of genomics, exploring its potential to revolutionise patient care. Our guests discuss public perspectives on AI in genomics and address the ethical complexities that arise in this rapidly evolving field. Gain valuable insights into the future landscape of genomics and AI, as our experts discuss what to expect on the horizon. Our host Dr Natalie Banner, Director of Ethics at Genomics England, is joined by Ismael Kherroubi García, member of the Participant Panel and Ethics Advisory Committee at Genomics England, and Francisco Azuaje, Director of Bioinformatics at Genomics England. “So, AI is already driving the development of personalised medicine for both research and healthcare purposes. [...] In the context of healthcare, we are talking about AI tools that can support the prioritisation, the ranking of genomic variants. To allow clinicians to make more accurate and faster diagnosis.” You can download the transcript or read it below. Natalie Banner: Hello, and welcome to the G Word. In the past few years, artificial intelligence, or AI as a shorthand, has taken centre stage in the headlines. Sometimes for really exciting, positive reasons about the potential to drive improvements for society, and sometimes because of its potential risks and harms. These discussions and stories can sometimes seem like they're straight out of science fiction. There are a lot of questions, excitement, concerns about the societal impact of AI, so not just looking at individual patients, but that broader what does this mean for society? Ismael Kherroubi García: My somewhat hot take is that AI only accelerates societal impacts that genomics research and healthcare can have. So the impacts, of course, will be diverse and complex and quite widespread, especially given the quite nuance and sometimes difficult to understand areas of genomics and artificial intelligence. But the key takeaway from what I want to say is that it only accelerates the impacts of genomics and healthcare. So if we take genomics research to promote human flourishing, ideally, artificial intelligence will also only help further human flourishing. Conversely, applying artificial intelligence tools to genomics research can help perpetuate certain stereotypes and related harms. Natalie Banner: My name is Natalie Banner, and I'm the Director of Ethics at Genomics England. On today's episode I'm joined by Ismael Kherroubi García, member of the Participant Panel, and Ethics Advisory Committee at Genomics England. And Francisco Azuaje, Director of Bioinformatics at Genomics England. In today's episode we aim to cut through the hype and hyperbole and explore the real possibilities for AI within the domain of genomics and healthcare. We'll look at how AI tools and techniques have been used to date, and what the future holds, considering both the benefits and challenges faced in the genomics ecosystem. If you enjoy today's episode, we'd love your support. Please like, share, and rate us on wherever you listen to your podcasts. AI is in the news an awful lot, and not always for good reasons. There are many big and small tech companies that are exploring the use of AI in all walks of life, from finance to retail, to healthcare. And it's not always clear what AI means in these contexts, where it actually has the potential to really help people, drive improvements to healthcare and society, for example. But there are some exciting stories, so recently, Genomics England undertook a collaboration with DeepMind on their AlphaMissense tool, and that sought to classify the effects of 71 million missense mutations in the human genome. So it could process data at a scale and a speed far faster than any human has ever been able to before. So there's an awful lot of exciting work going on in AI, but we should emphasise that although some of this technology is really cutting edge, a lot of the techniques that are being used and talked about in AI, have actually been around for quite a long time. So Francisco, if I could start with you, can you help us understand what artificial intelligence, AI really is in the context of genomics? And maybe explain to us the difference between AI and machine learning, and how they relate to one another? Francisco Azuaje: Sure, Natalie. AI involves the creation of computer systems capable of performing tasks that typically require human intelligence, such as understanding natural language, recognising patterns in big data sets, and making decisions. Now, machine learning is the most successful technology within the field of AI, but machine learning focuses on the use of algorithms that allow computers to learn from the data and make predictions about the data without the need for explicit programming for each task or application. Natalie Banner: Ismael, perhaps I can turn to you. What do you see as the primary motivations or reasons for incorp

In this instalment, our guests engage in a compelling discussion centred around a recently published paper that supports the integration of whole genome sequencing into standard cancer care. Our guests shed light on the transformative potential of combining health data with whole genome data. Discover how this innovative approach empowers doctors to deliver more personalised and effective care. Our guests delve into the findings of a landmark national study, unravelling the significance of identifying inherited cancers for patients and their families. The episode explores not only the scientific advancements but also the real-world impact on individuals facing a cancer diagnosis. Our host Naimah Callachand is joined by Dr Nirupa Murugaesu, a Consultant in medical oncology at Guy's and St Thomas' NHS Foundation Trust, and the Principal Clinician for Cancer Genomics and Clinical Studies at Genomics England. And by Professor Sir Mark Caulfield, a Professor of Clinical Pharmacology at Queen Mary University of London, and who previously served as Chief Scientist for Genomics England and was instrumental in the delivery of the 100,000 Genomes Project. "In cancer we were sequencing sections of the tumour and comparing them to DNA inherited from your mum and dad, and that comparison allows us to work out what is driving the cancer, what may be affecting its potential for treatment and how we might choose treatments for patients. So this is a real opportunity to create precision cancer care." You can download the transcript or read it below. Naimah: Welcome to the G Word. What does it mean if we can test for inherited genes? Nirupa: It can influence how their cancer is treated. So it means that there may be certain types of therapy that are available if they have a specific inherited cancer gene, number one. It also can impact in terms of preventing further or other cancers related to those genes, and it may impact the type of surgery they have, and also the type of overall cancer treatment. And then finally, if they have got an inherited cancer, then, as I mentioned before, it may impact in terms of testing and screening for their family members. Naimah: I'm your host Naimah: Callachand. Today, I'm delighted to be joined by Dr Nirupa Murugaesu, who's a consultant in medical oncology at Guy's and St Thomas' NHS Foundation Trust, and the principal clinician for cancer genomics and clinical studies here at Genomics England. And Professor Sir Mark Caufield, who's a Professor of Clinical Pharmacology at Queen Mary University of London, and who previously served as chief scientist for Genomics England and was instrumental in the delivery of the 100,000 genomes project. Today, Mark and Nirupa are going to discuss key findings from a recent paper that's just been published in Nature. If you enjoy today's podcast, we'd really love your support. Please like, share and rate us on wherever you listen to your podcasts. Now, let's get into the interview. So first of all, Mark, I wondered if you could give me a bit of background on the 100,000 genomes project? Mark: So the 100,000 genomes project started in July 2013 following an announcement by the then prime minister, David Cameron, that the UK would be the first health system in the world to sequence 100,000 whole genomes, which is as much as you and I can read of the genetic code. In the case of cancer, which we focused on here, in cancer we were sequencing sections of the tumour and comparing them to DNA inherited from your mum and dad, and that comparison allows us to work out what is driving the cancer, what may be affecting its potential for treatment and how we might choose treatments for patients. So this is a real opportunity to create precision cancer care. Naimah: And Nirupa, can you tell me what the 100,000 genomes project meant for these patients with cancer? Nirupa: I think, firstly, we're very grateful for all of the participants in the programme, because what it's allowed us to do is to look at the data as a whole, and having all of that sequencing data alongside clinical information has been incredibly valuable, it has also developed the infrastructure for testing. And really I think for patients with cancer, they participated in this programme as a research project, and unusually for a research project these results were returned back to treating clinicians to clinical teams, if there may have been a result that would impact or change their management. But I think, importantly, what it enabled is the implementation of standardised cancer testing in the NHS, and really enabling that for a wider range of patients, not just those that participated in the project. And because of patients participating, this then allowed all of the data to be stored in a single place, and this has been incredibly valuable for clinical academics and researchers. Naimah: And can I ask what specific types of cancer that were looked at in 100,000 genomes project? Nirupa: Again, the pro

As we approach the conclusion of 2023, we reflect on a year that not only signifies our 10-year anniversary but also marks another chapter of our podcast. Throughout the year, guests have joined us fortnightly to share their research, stories, and aspirations for the future of genomic healthcare. In this special end-of-year episode, Naimah Callachand sits down with Dr Rich Scott, Interim Chief Executive Officer at Genomics England, to look back on the last decade of Genomics England. Tune in as we revisit memorable moments from the 2023 podcast episodes through key quotes, reflecting on the transformative journey of Genomics England. Join us for this insightful recap and a glimpse into the exciting future ahead! Below are the links to the podcasts mentioned in this episode, in order of appearance: Adam Rutherford, Laurence Hurst, Cristina Fonseca and Vivienne Parry: Public views on genetics - what have we learnt? Dr Jack Bartram: Can genomics improve our understanding of childhood cancers? Helen Webb, Lizzie Mordey, Kirsty Russell and Prabs Arumugam: How can advances in genome sequencing support patients through their sarcoma journey? Vivienne Parry and David Bick: Which conditions will we look for initially in the Generation Study? Dr Nicola Byrne: What are the challenges of data governance in the digital age? Chris Wigley: The journey to the Human Genome Project and beyond with Dr Francis Collins “We’re also looking to the future where, as I say, we’re proud of the impact that there already has been, and the NHS Genomic Medicine Service is the first national healthcare system to offer whole genome sequencing and that is extraordinary. Thinking about how we can broaden our impact is a really important part of that, and that’s thinking about how we can be supportive of genomic technologies broader than just whole genome.” You can download the transcript or read it below. Naimah: Welcome to the G Word. Rich: We’re in an extraordinary time. The power to analyse genomic data has changed enormously. These are big changes in terms of the, sort of, analytics that AI could bring and the potential to work not just within the UK but with other countries and other big initiatives to make sure that we’re answering the questions as best we can. Naimah: I’m your host Naimah Callachand and today we’ll be hearing from Rich Scott, Interim CEO for Genomics England. He’ll be sharing insights with us from the last year, and we’ll be revisiting key moments from earlier podcasts in the year featuring some of the voices that have shaped our discussions. If you enjoyed today’s episode we would love your support, please like, share and rate us on wherever you listen to your podcasts. Now let’s get into the interview. So, this year we celebrated our ten-year anniversary and as 2023 comes to a close we want to reflect on our achievements not just in the last year but over the last ten. So, Rich first of all can you talk us through where we started in 2013 and where we are now? Rich: It’s amazing really to think about how much things have changed in terms of genomics in clinic and in hospitals and then for us as Genomics England over the last ten years. So, actually thinking back ten years ago was only ten years after the Human Genome Project was completed, and when one thinks about what one could do in clinic and those questions you could answer using genomics in clinic. We could see what was coming, we could see these new technologies, next generation sequence in coming, but it was much more dependent on very targeted testing. And now with, you know, our founding project, the 100,000 Genomes Project that Genomics England was founded to deliver in partnership with the NHS we asked the first big question if you like which was how can whole genome sequencing play a role in routine clinical care. And that’s now played out where evidence from the project, what we’ve learnt, the infrastructure we’ve built, and also evidence from around the world that through the NHS Genomics Medicine Service has now put that into practice and we’re working in partnership to help them deliver it. So, it has gone from an idea where we could see this new technology, this potential, to a position where now patients in the NHS with cancer or with rare conditions have whole genome sequencing as a routine part of their clinical care where that’s in that national genomic test directory that NHS England have set up. Naimah: Earlier in the year we heard from Dr Adam Rutherford, geneticist, author and broadcaster who commented on how the public perception of genetics and science has evolved over the last few decades. “I’ve been doing this a long time and I think that when it comes down to it, genetics which is a relatively young science and really in a sophisticated way, you know, a mere few decades old, but what is it at its absolute core, it’s thinking about families, it’s thinking about inheritance and it’s thinking about sex. And these have been the major preoc

On today's episode, our guests will be discussing the CanGene-CanVar programme. Funded by Cancer Research UK, the 5-year programme aims to create an interface between NHS clinical care and research that will expand genetic testing access for those with inherited cancers. Our host Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Dr Helen Hanson, Consultant in cancer genetics at the Peninsular Regional Genetic Service, Kelly Kohut, Lead Genetic Counsellor at the South West Thames Centre for Genomics, and Rochelle Gold, Patient Representative on the CanGene-Canvar research programme and co-founder of BRCA Journey. "There is also the possibility of finding out genetic information that’s familial or inherited, which could mean that the information is not only important for the person who is being treated for cancer at the current time but also as a next step informing relatives that they might have a higher chance of getting cancers in the future due to a genetic variant..." You can download the transcript or read it below. Amanda: Hello and welcome to The G Word. My name is Amanda Pichini and I’m the Clinical Lead for Genetic Counselling at Genomics England. We know that cancer is a very common disease. About one in two people will develop cancer at some point in their lifetime. Cancer is a disease of the genome involving many changes to a person’s genome over time as well as other factors. Only a small proportion of all cancers are inherited, but this can have a significant impact for those families who have a much higher risk of cancer and options to reduce their risk. Today I’m delighted to be joined by Dr Helen Hanson, Consultant Clinical Geneticist; Kelly Kohut, Consultant Genetic Counsellor; and Rochelle Gold, Patient Representative and co-founder of BRCA Journey. We’ll be discussing the CanGene-CanVar programme which aims to link NHS clinical care and research to expand access to genetic testing and care for people with inherited cancers. Welcome, Rochelle, Helen and Kelly to The G Word. Thank you for joining me today. Let’s start with some introductions. Rochelle, over to you? Rochelle: Hi, everyone. I’m Rochelle and I’m one of the Patient Reps on the CanGene-CanVar research programme. I also co-founded an organisation called BRCA Journey that helps to raise awareness of the BRCA genetic mutation amongst both clinicians and the community, and also supports people who might be at risk of the mutation or who are thinking about testing, all the way through to maybe having preventative treatment or preventative surgery. We support those with that decisions. We’re not genetic counsellors but we do basically talk to people about our experience and knowledge that we have of what it’s like as a patient to be someone living with the mutation. Amanda: Thank you. Could you briefly tell us what BRCA is and how you came to be a patient? Rochelle: BRCA is a genetic mutation that puts people at greater risk of breast and ovarian cancer. My mum had the mutation, in fact she had two of the mutations which is apparently quite rare. She passed away from breast cancer and just before she passed away I found out that I had the genetic mutation as well. I personally have had preventative surgery and reconstruction to prevent myself from getting breast and ovarian cancer. I got involved in being a patient rep so that I can advocate for people who may have the mutation, but also make sure that as many people as possible can be tested and be aware that they have the mutation and have that power to have the knowledge to be able to do something about it should they so wish. Amanda: Thank you so much for sharing that with us. Kelly, over to you? Kelly: Hello, everyone. I’m Kelly Kohut, I’m the Lead Consultant Genetic Counsellor at the South West Thames Centre for Genomics, which is based at St George’s Hospital in London. For many years I’ve been working in clinical practice in genetic counselling, seeing patients and their families regarding personal or family history of cancer, offering genetic testing where that’s available, and then giving the results and helping to refer people on for surveillance programmes and to discuss risk reducing options, and also help a lot with communication within families, sharing the information from the genetic test results. For the past few years, I’ve also been doing my own research as part of the CanGene-CanVar programme, funded by the charity Cancer Research UK. This has involved partnering directly with patients and other expert stakeholders to co-design a patient website to support decision-making around the genetic chances of getting cancer in families. Amanda: Thank you. And Helen? Helen: Hi, everyone. I’m Helen Hanson, I’m a Consultant in Cancer Genetics. I’m based at the Peninsular Regional Genetic Service which is in Exeter. In my clinical practice I see patients who either have a cancer diagnosis to consider whether they may have an inherited sus

This year as we celebrated our 10-year annivesary, the NHS celebrated a significant milestone of 75 years. In this episode we reflect on our journey over the last 10 years, including the impact of embedding genomic testing into the NHS, how it all started with the 100,000 Genomes Project, and how patients have influenced the shape of the Genomic Medicine Service today. Host Rebecca Middleton, Vice Chair of The Participant Panel at Genomics England is joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in the NHS, and Dr Rich Scott, Interim Chief Executive Officer for Genomics England in this special episode. "To date, we’ve had over 1,500 putative diagnostic variants returned to the NHS, so to our NHS genomic laboratory hubs, for further investigation, further discussion with clinical teams. About 80% of those have been returned to clinicians and therefore to patients to, for example, give them a diagnosis or to update the diagnosis that they’ve been given or make treatments available. That is a real positive benefit from that pipeline to individual patients." Listen to the other episodes in our 10-year series: Shelley Simmonds, member of the Participant Panel at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Amanda Pichini, clinical lead for genetic counselling for Genomics England as they reflect on how the patient journey has changed over the last 10 years for those living with rare conditions. Dave McCormick, member of the Participant Panel at Genomics England is joined by Jenny Taylor, a valued member of our research community, and Professor Matt Brown, our Chief Scientific Officer, discussed the last decade of genomic research at Genomics England. Transcript You can read the transcript below or download it here: Transforming-the-NHS-with-genomic-testing.docx Rebecca: Hello and welcome to the G Word. My name is Rebecca Middleton and I’m the Vice Chair of The Participant Panel at Genomics England. On today’s episode, I’m joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in the NHS, and Dr Rich Scott, Interim Chief Executive Officer for Genomics England. Today we’ll be reflecting on the last ten years of genomics, including the impact of embedding whole genome sequencing into the NHS, how it all started with the 100,000 Genomes Project, and how patients have influenced the shape of the Genomic Medicine Service today. If you’ve enjoyed today’s episode, we would love your support. Please like, share and rate us on wherever you listen to your podcasts. Thank you, Sue and Rich, for joining me today as we look back at how genomics has developed in the NHS over the past decade and impacted tens of thousands of lives. It all started with the creation of Genomics England and it’s first groundbreaking initiative, the 100,000 Genomes Project, which sequenced around 85,000 NHS patients affected by rare conditions or cancers and led to groundbreaking insights and discoveries for so many families. I’m one of those rare condition patients and my genome sits in the National Genomics Research Library besides thousands of others. Along with the project, I’ve been on a journey over the past ten years and I’m still hopeful that through time and further scientific discovery, my family and many others will get the answers they need for the future. Today is a chance to reflect back over the progress of the past ten years and to look forward about what’s next for genomics, for genomic science, the genomic service, and for the patients and families it impacts. Sue, welcome. If we can come to you first, and it’s a very big ask coming up, but can you briefly sum up your critical role in genomics over the past ten years and talk us through how you’ve shaped the service in the NHS to date? Sue: My role in genomics in the NHS has actually been much longer than ten years, because particularly genetic services have been part of the NHS journey since it was formed in 1948. As Chief Scientific Officer for England, part of my responsibility since I was first in that post in the Department of Health at that time and now subsequently in NHS England, but still with a crosscutting health and social care role, genetics and genomic services actually sit under the remit of the Chief Scientific Officer for England. Shortly after the 100,000 Genomes Project was announced and that the NHS would be a major contributor to the 10,000 Genomes Project, I was asked to lead the NHS contribution to the 100,000 Genomes Project. My role has been both of leading the NHS contribution to the 100,000 Genomes Project, and then as Senior Responsible Officer for Genomics in the NHS in introducing the NHS Genomic Medicine Service to the NHS and its subsequent role in delivery and in supporting research and other initiatives. Rebecca: Rich, over to you. Ten years ago I believe your role was very different and you were in clinic, so how

Genetic Counsellors play an important part in healthcare and research. This Genetic Counsellor Awareness Day we focus on the role genetic counsellors have in research, to help improve care for patients and families. On this episode, Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Emma Walters, member of the Participant Panel at Genomics England, and Jonathan Roberts, NHS Genetic Counsellor and Clinical Content Developer at Genomics England. Emma shares her personal story and our guests delve into the impact of not having access to genetic counselling. They explore how research priorities can be defined by bringing together both the genetic counsellors and what they're doing in their healthcare roles and the patients themselves and their experiences together. Johnathan will also be talking to genetic counsellors throughout this episode from the recent World Congress on Genetic Counselling. You can download the transcript here. "I think another way in which research can really push that agenda forward is understanding who isn't accessing that [genetic] counselling. So when people get through the door and they experience genetic counselling, often that can be really valuable and they can suddenly start to make sense of all this testing, this family history. They can have a chance to talk about how they feel about it." With special thanks and acknowledgements to World Congress on Genetic Counselling and Wellcome Connecting Science for their contribution to this podcast including Genetic Counsellors, Manisha Chauhan, Alison McEwen, Jared Warde-Jospeh, Nour Chanouha, Jehannine Austin and Kennedy Borle.

Unfortunately, please note you may be able to hear some background noise or static during some parts of the recording. In this episode, Candice King, Patient and Public Engagement Manager and Will Townley, Cohorts Manager who both work at the Diverse Data initiative at Genomics England, are joined by Dr Mie Rizig and Sir John Hardy, who both work at University College London (UCL). This podcast delves into a new paper published by Mie and John in the Lancet Neurology. The paper describes a novel African ancestry Parkinson's disease genetic risk factor. Our guests discuss the need for diversity in genetic research, the key findings from their study, and opportunities for future research in Parkinson's disease. You can read the full transcript here: Diversity-in-Parkinsons-research.docx “The number of people [in genomic research studies] from a white background, Northern Europeans, is about 95%. The number of people from an African background is only 0.2%. This is a significant disparity. When [clinicians] want to translate this into clinical practice, [they] think about: How will be able to test those people sufficiently enough?” The study was conducted by scientists from the UCL Queen Square Institute of Neurology, London, the National Institutes of Health, and the University of Lagos, Nigeria as part of the Global Parkinson's Genomic Program (GP2). GP2 is supported by the Aligning Science Across Parkinson's (ASAP) initiative and implemented by The Michael J. Fox Foundation for Parkinson's Research (MJFF). The paper mainly included cohorts from: The Nigerian Parkinson Disease Research Network, which is part of the International Parkinson's Disease Genomics Consortium (IPDGC) Africa, a collaboration of cohorts across 12 countries to increase the scientific understanding of Parkinson's disease in Africans. IPDGC Africa is funded in part by MJFF. The BLAAC PD study is a cross-sectional study that collects blood or saliva samples and clinical data from Black and African Americans. It is funded by ASAP and implemented by MJFF. Most of the control participants were obtained from 23andMe, a personal genetics company that has assembled a sizable cohort of individuals who have consented to contribute their data for use in various research studies.

The Newborn Genomes Programme is delivering the Generation Study in partnership with the NHS. The study will explore the possibilities of whole genome sequencing in newborn babies, including to identify a wider range of rare genetic conditions current NHS newborn blood spot test. To do this, we have undertaken significant engagement work to identify the genetic conditions that should be looked for and fed back to families. In this episode, Vivienne Parry, Head of Public Engagement at Genomics England, speaks to David Bick, Principal Clinician for Newborn Genomes Programme at Genomics England. They discuss the process behind determining the provisional list of over 200 conditions caused by genetic changes in more than 500 different genes and how this list may change during the course of the study as new evidence emerges. You can read the transcript here: Conditions-list-for-the-Generation-Study.docx You can also find a short explainer video explaining the conditions list on our YouTube channel.

In this episode, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, is joined by Dr Jack Bartram, consultant paediatric haematologist at Great Ormond Street Hospital (GOSH) for Children. Dr Bartram leads on molecular diagnostics within the haematology department at GOSH and has expertise in minimal residual disease in acute lymphoblastic leukaemia. He is currently the clinical lead for haematological malignancy genomics in the NHSE North London genomic laboratory hub and has been responsible for the implementation of advanced genomics and whole genome sequencing into clinical practice at GOSH. Approximately 2,000 children in the UK receive a childhood cancer diagnosis each year. However, childhood cancers account for a relatively small percentage (less than 1%) of all cancer diagnoses in the UK. This rarity has posed challenges in fully understanding the associated risk factors and underlying causes. In this podcast Dr Bartram discusses how genomics has emerged as a pivotal tool in enhancing our understanding, offering opportunities for precise diagnosis, personalised treatment, and improved screening methods for childhood cancer. You can read the transcript here: Childhood-cancer-awareness.docx "If I look back on and if I reflect on the last three years, we can probably accurately say for at least a quarter of patients it's [genomics] given us additional information, which has either aided in diagnosis or like I'd say to help re-stratify a patient or potentially reveal a target for a therapy that we didn't know of before."

This week, our host Will Macken, is joined by a panel of Early Career Researcher (ECR) representatives to discuss how ECRs can navigate and position themselves within the ever-changing field of genomic research. Will is a clinician and researcher at the University College London Queen Square Institute of Neurology and Great Ormond Street Hospital. Will is also an ECR representative on the Genomics England Clinical Interpretation Partnership board. In this week's episode he's joined by: Nicky Whiffin, Associate Professor and Sir Henry Dale Fellow at the University of Oxford, and Quantitative Genomics representative on the Genomics England Clinical Interpretation Partnership board Charlotte Durkin, Head of Programme at the Medical Research Council, and Jamie Ellingford, Lead Genome Data Scientist for Rare Disease at Genomics England. "There can be people that just pick up basic skills to analyse the dataset that's in front of them that they've spent months in the wet lab trying to generate. Through to people who are proper software engineers and will be writing unit tests to test every single line of that code. I don't think it really matters where you sit on that continuum as long as it works for you, and it aligns with your future career progressions and what you want to be in the future, essentially." You can read the transcript here: Early-Career-Researchers.docx You can find the information on resources, events and support for ECRs mentioned on this podcast on our website. We've got free-to-attend monthly research seminars, and Research environment training sessions for those who have joined the Genomics England research community - find out more and register for our next sessions here. Email us if you have any questions: [email protected].

In this episode, Lois Gulliford, Legal Counsel at Genomics England, is joined by Sarah Justine Kerruish, Chief Strategy Officer at Kheiron Medical, Hélène Guillaume Pabis, Founder and CEO of Wild.AI and Emilia Molimpakis, CEO and Founder of thymia, to discuss how to tackle bias in healthtech. With growing concerns about the safety of AI prompted by rapid technological advancements, a crucial question arises: how can we guarantee the equitable and unbiased utilisation of AI? Our guests delve into this issue and examine the importance of integrating diverse data sources. You can read the transcript here: How-can-we-overcome-bias-in-healthtech.docx "I think multimodal is the future, but we have a very special responsibility to be inclusive - to make sure that we are completely rigorous and robust in making sure that women and people from ethnic minorities are represented from the beginning and not as an afterthought."

In this episode of our explainer podcasts, we’ve asked Jamie Ellingford, Lead Genome Data Scientist for Rare Disease at Genomics England, to explain what bioinformaticians do and how they're involved in the study of genomes, in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: What-is-a-bioinformatician.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected].

In this episode, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Dr Rich Scott, Chief Medical Officer and Deputy CEO at Genomics England, and Professor Zornitza Stark, clinical geneticist at the Victorian Clinical Genetic Services in Melbourne, to discuss their recent paper published in the Nature Review's Genetics journal on 'Genomic newborn screening for rare diseases'. Rich and Zornitza discuss and compare newborn screening practices on a global scale, and delve into the benefits and challenges of incorporating genomic sequencing into newborn screening. Read the full review paper here. You can read the transcript here: Genomic-newborn-screening-for-rare-diseases.docx "We’re just also on the cusp of what feels like a really potential game-changing period in terms of the availability of treatments and interventions for rare conditions."

In this episode of our explainer podcasts, we’ve asked Dr Prabhu Arumugam, Director of Clinical Data and Imaging at Genomics England, to explain multimodal data in less than 10 minutes. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: What-is-multimodal-data.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected].

In this episode, Chris Wigley, CEO at Genomics England, is joined by renowned physician-geneticist, Dr Francis Collins, best known for his landmark discoveries of disease genes and his previous leadership of the international Human Genome Project. Dr Collins currently serves as a Senior Investigator in the intramural program of the National Human Genome Research Institute and as a Senior Advisor to the National Institutes of Health (NIH) Director. Dr Collins is the longest serving Presidentially-appointed director of the NIH (2009-2021). Beyond his work on the Human Genome Project, Dr Collins has made significant contributions to advancing medical research and precision medicine. He has been a strong advocate for the responsible application of genomics in healthcare and has received numerous awards and honors for his contributions to science and medicine. In this episode, he speaks to Chris Wigley about his journey from eager Chemistry student to co-leader of the landmark Human Genome Project and his thoughts on what's next in the world of genomics. You can read the transcript here: Chris-Wigley-interview-with-Francis-Collins.docx "My dream, Chris, is that we come up with, in the next decade, a scalable approach to every genetic disease where you know the mutation."

In this episode of our explainer podcasts, we’ve asked Emma McCargow, Programme Lead for the cancer programme at Genomics England, to explain in less than 10 minutes, the difference between long-read and short-read sequencing. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: Long-read-vs-short-read-sequencing.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected].

In this episode, Helen Webb, Product Lead for the bioinformatics pipeline at Genomics England, is joined by Dr Prabs Arumugam, Director of Clinical Data and Imaging and Caldicott Guardian for Genomics England and Kirsty Russell, Product Manager for cancer long-read sequencing at Genomics England, as they speak to Lizzie Mordey, a clinical trials coordinator, whose husband Stevie sadly passed away last year after receiving a sarcoma diagnosis. On average, 15 people in the UK are diagnosed with sarcoma cancer every day, but awareness of its signs and symptoms remains low. When Stevie first became unwell, after months of inconclusive tests, it was not until he had whole genome sequencing, that Stevie finally had some answers and received a diagnosis of sarcoma. July is Sarcoma Awareness Month, and in today's podcast, Lizzie takes us through Stevie's journey and how whole genome sequencing can provide answers and guide treatment decisions for patients diagnosed with sarcoma. You can read the transcript here: Sarcoma-awareness-month-transcript.docx If you'd like some further help or support after listening to this podcast, Sarcoma UK is a national charity that funds vital research, offers support for anyone affected by sarcoma cancer and campaigns for better treatments. The free Sarcoma UK Support Line is here for every person affected by sarcoma. You can call the confidential Sarcoma UK Support Line on 0808 801 0401 or email [email protected],or text 07860 058830 to speak with a specialist adviser.

In this episode of our explainer podcasts, we’ve asked Dr Natalie Banner, Director of Ethics at Genomics England, to answer in less than 15 minutes: what is the National Genomic Research Library and what is it used for? You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: What-is-the-National-Genomic-Research-Library.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected].

In this episode, Dave McCormick, member of the Participant Panel at Genomics England is joined by Jenny Taylor*, a valued member of our research community, and Professor Matt Brown, our Chief Scientific Officer, to discuss the last decade of genomic research at Genomics England. During this podcast our guests will consider: Is the National Genomic Research Library (NGRL) meeting its full potential? What is the future direction for research at Genomics England? How will Genomics England help research participants make connections with researchers who are interested in their gene or condition? You can read the transcript here: Reaching-the-full-potential-of-genomic-research.docx "One thing I'm really keen to see is that [the NGRL] grows and continues to be bringing in details on new patients who are experiencing treatments and diagnostic processes in the current day…We're expecting that over the next three years it will grow to over half a million in size by the end of 2026. We also would like to see an increase in diversity, and I mean that not just in terms of clinical diversity, but also ancestral diversity." *Jenny Taylor is an Associate Professor in Translational Genomics at the Wellcome Centre for Human Genetics, University of Oxford, and Co-Lead for the Genomic Medicine Theme at the Oxford Biomedical Research Centre.

For our World Sickle Cell Day episode, Marie Nugent, Community Manager for the Diverse Data initiative at Genomics England, is joined by John James OBE, CEO of the Sickle Cell Society, and Suzannah Kinsella from the James Lind Alliance. They discuss the new priority setting partnership for sickle cell and genomics, including the longer-term plan to engage communities to create space for learning and trust building, and the importance of the patient-voice in setting research agendas for the use of genomics in sickle cell disease. By creating a 'top ten' for future research priorities set by patients, their carers, and their healthcare professionals using a trusted methodology, we aim to build trust and understanding across patients, healthcare and research to bring maximum benefit to patients through the newly developing technology that is genomic medicine in the health service. You can read the transcript here: Research-priorities-for-sickle-cell-and-genomics.docx "It was a few years ago when I met the Chief Executive Office of Genomics England, and we had the first podcast about sickle cell. Why I remember it well is because I was arguing that why isn't there any action being taken by way of research and genomics for sickle cell... And so Marie, it was effectively a call to action. Here today talking about the Diverse Data, which is specific work to help us prioritise what the research priorities for sickle cell should be." - John James, OBE You can also listen to the first podcast with John James and Chris Wigley.

In this episode of our explainer podcasts, we’ve asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, what is whole genome sequencing. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: What-is-whole-genome-sequencing.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected].

In this episode, Shelley Simmonds, member of the Participant Panel at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Amanda Pichini, clinical lead for genetic counselling for Genomics England, to discuss how the patient journey has changed over the last 10 years for those living with rare conditions. This year, we're celebrating our 10-year anniversary, and in this special episode our guests will delve into how we can continue to strengthen the relationships between Genomics England and charities such as Genetic Alliance, and we will explore the significance of these partnerships in transforming the landscape of support for individuals with genetic conditions. You can read the transcript here: Supporting-complex-patient-journeys.docx "Our challenges as charities is both to help shape the research and to help make sure that the research is addressing the things that matter most to people with living with rare genetic conditions and their families, but also to make sure that the benefits of that research actually reach patients and their families and really improve people's lives in the longer term."

In this episode, Vivienne Parry, the Head of Public Engagement at Genomics England, is joined by Helen Dolling, a researcher at the Centre for Family Research at the University of Cambridge, Kym Winter, the Clinical Director and founder of Rare Minds, and Melanie Watson, the Lead Genetic Counsellor for the Wessex Clinical Genetic Services, to discuss the impact that a genetic diagnosis can have on mental health for both the person directly affected and their wider family. For Mental Health Awareness Week 2023 (15 to 21 May) we want to signpost to resources and support available for those families affected by a genetic diagnosis. Our guests discuss the gaps in mental health support and how the process of receiving a genetic diagnosis could be improved to support the mental health of those affected. You can read the transcript here: Genetic-diagnosis-and-impact-on-mental-health.docx Resources and support mentioned in this podcast: Charities and patient organisations Rareminds work in partnership with patient organisations to provide psychotherapeutic counselling, groups, and training about the mental health impact of rare conditions. Unique provide support, information and networking to families affected by rare chromosome and gene disorders. Genetic Alliance UK have a comprehensive list of condition-specific patient organisations. SWAN UK supports families affected by a syndrome without a name. Gene People provide valuable resources for adults and children affected by genetic disorders. Affinity Hub signposts to emotional support (including counselling) for parents and carers of children with special needs. Other resources Rareminds and Medics4Rare Diseases have worked together on a module for Health Care Professionals on 'Rare Diseases and Mental Health'.

We're going back to basics today, and in this explainer podcast, we’ve asked Greg Elgar, Director of Sequencing R&D here at Genomics England, to clarify in less than 10 minutes, exactly what is a genome. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: What-is-a-genome.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected].

In this weeks' episode, Naimah Callachand, Head of Product Marketing at Genomics England, is joined by Tiggy Johnstone-Burt, a Macmillan Genomics Clinical Fellow and a clinical nurse specialist, Vicky Cuthill, a nurse consultant, and Sally Shillaker, a health visitor and practice development lead in genomics, to discuss how both nurses and health visitors play a vital role in the patient care pathway for those who have received a genetic diagnosis. For this years' International Nurses Day on 12 May, we're celebrating a brighter future of nursing. With the rapid advances in genomic medicine, both nurses and health visitors are uniquely positioned to translate genomic information into clinical care and to educate patients and families about the role of genomics in their health. You can read to the transcript here: International-Nurses-Day.docx "I would love to see an NHS service where genomic testing was part of the standard routine care…This is a beautiful example of advanced practice and I think that we [nurses and health visitors] are perfectly placed to be taking this on, and I'd really like to see a better recognition of that in the future."

In this episode, our Director of Ethics, Dr Natalie Banner, is joined by Dr Nicola Byrne, the National Data Guardian for health and adult social care in England. Listen to find out more about the challenges of data governance in healthcare, people’s relationship to their health and care data, the importance of transparency and accountability in how data is used to support better outcomes from health and care services. The National Data Guardian is responsible for ensuring that personal confidential data is used to improve health and care services while also maintaining thorough safeguards to protect this information. You can read the transcript here: National-Data-Guardian.docx "It's absolutely important that people feel that they can share that information and then feel confident... Whether that's for their own care or thinking about the benefit, rather, people in future through research and innovation and planning."

People often use the terms genetics and genomics interchangeably, but is this right? In the first of a series of explainer podcasts, we’ve asked Dr Rich Scott, Chief Medical Officer, and Deputy CEO here at Genomics England, to clarify in less than 10 minutes, exactly what these two terms mean and when we should use them. You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel. You can read the transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genetics-vs-genomics-whats-the-difference.docx If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on [email protected].

A survey of over 2000 British adults conducted by the Genetics Society found that trust in genetics is high and went up significantly during the pandemic. In this episode, our Head of Public Engagement, Vivienne Parry OBE, is joined by guests, Dr Adam Rutherford, geneticist, author, and broadcaster, Professor Laurence Hurst, Professor of evolutionary genetics and Director of the Milner Centre for Evolution and Dr Cristina Fonseca, Head of Engagement and Communications at Genetics Society, to discuss findings from the survey and the supporting research paper published in Plos Biology exploring the links between someone’s understanding of science and their attitudes towards it. You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Public-views-on-genetics.docx "We're all responsible for communicating science.... and our jobs will never be done because this is a hard game it turns out."

The Errol McKellar Foundation focuses on giving presentations and talks around the UK to raise the awareness of important men’s health issues, especially prostate cancer. Friends of Caswell Thompson (FOCT) is an organisation set up for, and dedicated to, raising awareness about prostate cancer in the BAME communities in Bristol and surrounding towns and villages through a range of activities, with a particular focus on reaching black men, in whom the incidence of prostate cancer is 1 in 4, compared with 1 in 8 in the general population. You can read our transcript here: The-Errol-McKellar-Foundation-and-friends-of-Caswell-Thompson.docx "The fear of knowing vs. the fear of doing nothing." Marie Nugent, Community Manager for Diverse Data at Genomics England, is joined by Errol McKellar, MBE, founder of the Errol McKellar Foundation, and the MOT yourself campaign, and Errol Thompson and Errol Campbell, Directors of Friends of Caswell Thompson, who are dedicated to supporting families affected by prostate cancer in and around Bristol. Today, we'll be hearing about the impact these two incredible companies are having in raising awareness of prostate cancer risk in the communities.

On this episode, Lyra Nightingale, our ethics lead at Genomics England, is joined by Professor Anneke Lucassen and Dr Faranak Hardcastle in a deep discussion about ethics and data. They discuss the neutrality of data, cultural humility in research, the role of structural racism in science and the role of co-production in diversity. You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Professor-Anneke-Lucassen-and-Dr-Faranak-Hardcastle.docx "Data is not neutral, or objective, because they don't exist in a vacuum. And they are produced by processes that we put them through, we curate them, we select them, collect them, clean them, edit them, and classify them and then end up analysing them." References: Bowker, Geoffrey C., and Susan Leigh Star. Sorting things out: Classification and its consequences. MIT press, 2000. Gitelman, Lisa, ed. Raw data is an oxymoron. MIT press, 2013. Ruppert, Evelyn, and Stephan Scheel, eds. Data practices: Making up a European people. MIT Press, 2021.

What is the impact of the participant data from the 100,000 Genomes Project? Rebecca Middleton and Jillian Hastings Ward explore these questions and discuss how the science has evolved at Genomics England with our CEO, Chris Wigley, Head of Translational Genomics, Dr Suzi Walker (a.k.a. the gene detective!) and Clinical Director and Director of Quality, Dr Ellen Thomas. We are taking you back to the Reanalysis Webinar for Participants, where Jillian, Chair of the Participant Panel, and Rebecca, Vice Chair of the Participant Panel, asked Chris, Suzi and Ellen questions that the participants had about Genomics England's approach to reanalysis. Hear directly from participants of the 100,000 Genomes Project! You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Reanalyis-Webinar.docx ''What should I do? Should I have another test? If so, what test should I have? What should be my next steps?''

As we draw a close to 2022, Chris Wigley takes us through the best parts of the year in this short but sweet episode of The G Word. From our 10-year anniversary to GERS 2022 to our inspiring patient stories, Genomics England has achieved many milestones this year. We have enjoyed the privilege to speak to so many incredible people from across the world to talk about what we love most, genomics. Thank you to our wonderful listeners, see you in 2023! You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/End-of-year-transcript.docx

Nicola Perrin MBE, who is a new non-executive director on the Genomics England Board, has also recently been appointed to the Board of UK Biobank, as well as being the CEO of the Association of Medical Research Charities that AMRC, an organisation that brings together and supports over 150 health and medical charities to enable and support high-quality research. View our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Nicola-Perrin.docx "Don't underestimate the power of mothers on a mission!" In this episode, Chris Wigley and Nicola Perrin MBE discuss all things life science, data and the importance of engaging users in research.

This week we are celebrating the 10-year anniversary of the announcement of the 100,000 Genomes Project. To mark this ground-breaking project, our Head of Public Engagement, Vivienne Parry OBE, is joined by two guests who have played a critical role over the last 10 years: Professor Sir Mark Caulfield, who led the strategic oversight and delivery of the project, and Jillian Hastings Ward, Chair of the Participant Panel at Genomics England. Jillian and her family joined the project in 2015, in search of answers for her young son who is severely disabled. Tune in to hear Jillian and Mark discuss their highlights over the last 10 years, how Genomics England has grown as an organisation and what they think the future of genomics holds. You can read our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/10-years-of-100K-Project.docx “Thanks to the 100,000 Genomes Project, Sam was the first person diagnosed in the mainstream NHS in England with a GRIN1 genetic disorder. That's been wonderful for us to know, as a family, who else we can find around the world with the same condition. But also, I'm really delighted that GRIN1 genes were added to the gene panels that the teams were using to diagnose more people as a consequence directly of the 100,000 Genomes Project. That's meant that we've been able to find a lot more since then, who shared the same condition. Hopefully, in due course, we'll have enough people that we can get more researchers interested and make real progress together."

Genome Canada is an independent, federally funded not-for-profit organisation and a national leader for Canada’s genomics ecosystem. Working in partnership, and across sectors, they invest in, and coordinate, genomics research, innovation, data and talent to generate solutions to today’s biggest challenges. CEO Rob Annan joins us in an inspiring and fascinating discussion. You can view our Transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Rob-Annan.docx "We do work in health, but we work beyond health." Today, Genomics England's CEO Chris Wigley meets Rob Annan, CEO of Genome Canada. They discuss challenges in sharing genomic data in Canada, working with indigenous communities in the north of Canada, and Rob's 'manifesto' for the future.

Another brilliant session from the last genomics England Research Summit, where Chris Wigley spoke with Professor Dame Sue Hill and Vivienne Parry, about the state of genomics research and the pathway to clinical implementation. What does it take to scale an idea like whole genome sequencing diagnostics across an entire health service? You can find our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genomics-England-Research-Summit-2.docx "the NHS is both the producer and the consumer of innovation" On todays episode of The G Word, Chris Wigley is joined by Vivienne Parry, our Head of Public Engagement and Professor Dame Sue Hill at our 2022 Genomics England Research Summit. They discuss what genomic testing means for both clinicians and patients, how we measure equity of access and patient stories from the 100,000 Genome Project.

Genetic counsellors are a highly specialised group of healthcare professionals, who have the expertise to help patients and families understand complex information relating to genomics, as well as provide guidance and emotional support. Whether that's to understand their family history, make informed choices about genetic testing, or come to terms with a result or a new diagnosis. As genomics becomes more commonly used in health care, more and more people are likely to require genetic counselling and more healthcare professionals need to rely on their expertise. You can find our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genetic-Counsellors.docx "What we're really here for, is to be able to explain something that's really quite complicated science, and how that fits into your life, your family, your values and your decision-making." Today, Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Dave McCormack, member of the participant panel to Genomics England, Sara Levine, consultant, a genetic counsellor at the Centre for reproductive and genetic health and chair of the Association of genetic nurses and counsellors. Janice Bailey, a cardiology clinical nurse specialist and preregistration genetic counsellor, and Heather Pierce, a genetic counsellor with a neural net Project at the University of Cambridge.

The Genomics England Research Summit is an exciting one-day event that explores the latest research and technology innovations from Genomics England, partners, and complementary fields. The summit covers all things genetics from Cancer Genomics, Emerging Technologies, Rare Diseases to Policies and Initiatives. You can view our transcript, here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Genomics-England-Research-Summit.docx "...one of the most important things is to understand you have to build a sustainable system and really invest in building those relationships." Today, we're very excited to share one of the brilliant sessions from the last Genomics England Research Summit, where Jillian Hastings Ward, who is the chair of our Participant Panel, spoke with Baroness Nicola Blackwood, who's the Chair of the Board at Genomics England, about the importance of patients being at the heart of the research.

A doctor, a scientist, an entrepreneur, and a Pulitzer Prize-winning author is Siddhartha Mukherjee. His new book is called 'The Song of the Cell, An Exploration of Medicine and the New Human'. Siddhartha Mukherjee is a cancer physician and researcher. He is an assistant professor of medicine at Columbia University and a staff cancer physician at Columbia University Medical Center. A Rhodes scholar, he graduated from Stanford University, University of Oxford, Harvard Medical School. He has published articles in Nature, The New England Journal of Medicine, The New York Times, and The New Republic. You can view our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Siddhartha-Mukherjee.docx "A gene, as you know, is extraordinarily important. It's a carrier of information. But it's lifeless. Without a cell, a gene is a molecule, a cell brings it to life." Today on The G Word, Parker Moss, our Chief Partnership Officer is joined by Siddhartha Mukherjee. They Discuss Siddhartha's new book release covering some of the main insights into his lab research and personal life. They also discuss other scientific areas of research .

Before joining All of Us, Martin Mendoza served as director of the Division of Policy and Data at the Office of Minority Health in the Office of the Secretary at the U.S. Department of Health and Human Services, charged with developing health policies and initiatives to eliminate health disparities and advance health equity. View our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Martin-Mendoza.docx "Information can then help to improve the ways to diagnose, prevent, and treat health conditions and lead to improved health for hopefully generations to come." Today on The G Word, Maxine Mackintosh, programme lead for Diverse Data at Genomics England, is joined by Martin Mendoza, Director of Health Equity at All of Us. They discuss the need for health equity engagement of special populations and the impact of the pandemic.

Muslim Census surveyed 1,007 Muslims aged 18-65+ living in the UK to understand whether these pre-conceptions about Muslim’s attitudes towards health research and genomics more broadly, as well as health information, are based in fact. Our aim is for the findings to help explore how to engage with Muslims to increase Muslim representation in genetic research. Aman Ali, one of Genomics England's proud ambassadors is joined by two health researchers from Muslim Census, Mai Shehab and Zaynah Asad. They discuss the lack of representation in the Muslim community and how and why this must change in order to benefit the future of healthcare. You can find our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/The-Muslim-Census.docx "Over 70% of our respondents said that they were hopeful about where developments in science and tech are going. It shows a willingness to learn more and participate more." Mai Shehab and Zaynah Asad joined Aman Ali, one of our ambassadors, at the Genomics England Research Summit 2022. They discussed the lack of Muslim representation in genetic and genomics research, the lack of knowledge of genomic terminology and genomics generally in Muslim communities and what genomics England need to do to change these figures and engage more ethnic communities in studies.

This Breast Cancer Awareness Month, Kate Grafton shares her journey with breast cancer at the Genomics England Research Summit hosted earlier this year. She talks living with breast cancer and the side effects of cancer treatments and the importance of engaging with the patient community. If you're a researcher wanting to understand how and where to connect with your patients, listen to this episode. You can find our transcript here: https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Kate-Grafton.docx "We want to work with you to look at how can we make kinder treatments and how can we have longevity. I don't just want quantity of life, I want quality of life." Kate has been living with secondary breast cancer since 2011 and is a member of ARC as part of her role as a representative of the Participant Panel. She has an active role with several national breast cancer support groups, has successfully campaigned for fair access to cancer interventions and has sat as an expert patient on the Leeds Teaching Hospitals NHS Trust cancer patient forum. Kate is a HCPC and CSP registered physiotherapist with a specialist clinical background in ICU and surgical oncology. She is currently a Principal Lecturer in Physiotherapy at Leeds Beckett University and has undertaken and supervised numerous NHS based clinical research projects. Kate hopes to bring to ARC her knowledge and experience as a long term cancer patient and be a voice for others with an incurable cancer diagnosis.

The genome itself was the beginning of a whole technological revolution. Matt and Chris talk about taking on the challenge, searching for the needle in the haystack, and making it work at scale! Join Chris and population geneticist Prof Matthew Hurles this week as they delve into the genetic detective work and the future of research while engaging the research and participant community. If you're a student wanting to get into the field, Matt gives his take on how to go about it. You can find our transcript here – https://files.genomicsengland.co.uk/documents/Podcast-transcripts/Matthew-Hurles.docx. “The reference datasets of normal population variation in individuals of African ancestry are just smaller, and therefore less powerful than the ones of European ancestry. What we really need to do is enrich those African ancestry population datasets, that's something we really can hit on. I think that's a real global challenge." Prof Matt Hurles is Head of Human Genetics at the Wellcome Sanger Institute and Senior Group Leader of The Hurles Group. He is also the founder of Congenica and an honorary professor of Human Genetics and Genomics at the University of Cambridge. He leads the Deciphering Developmental Disorders (DDD) Study and the Prenatal Assessment of Genomes and Exomes (PAGE) Study. He also led the DECIPHER initiative that is enabling rare disease patients to share anonymised genetic and clinical data globally.

“I like ambitious visions, I like try to break the codes in order to get something to work to get a result. But on top of that, I want to make a change for the patient today, and a change for the future patients. And actually to use the knowledge and technology in order to change that to make a better healthcare system to make a better life for each patient today, each citizen.” Today, Chris Wigley, CEO of Genomics England is joined by Bettina Lundgren, CEO of the Danish National Genome Centre. They discuss Bettina's career, the importance of translating and understanding colleagues, and genome sequencing to benefit patients and to help find better treatments and cures.

"We took a look and we perform whole genome sequencing of Mila, her mother, her father, as well as her little brother. And we looked for something that might have been missed in those dark regions of the genome. And we found something quite unusual..." In Todays Episode, Dr Richard Scott, Chief Medical Officer of Genomics England is joined by Julia Vitarello, the mother of Mila, a young girl who was diagnosed with Battens Disease, and Dr Tim Yu, the doctor who designed a medicine just for her. We'll be hearing Mila's story and how Julia and Tim hope to help many more families access treatments for their children -- as they put it, from Mila to millions.