Episodios

  • Dr Emily Perry: What is the Genomics England Research Environment?

    Dr Emily Perry: What is the Genomics England Research Environment?
    Oct 15 2025
    In this explainer episode, we’ve asked Dr Emily Perry, research engagement manager at Genomics England, to explain what the Genomics England Research Environment is. 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 listen to the previous episode mentioned in this podcast, How has a groundbreaking genomic discovery impacted thousands worldwide? If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What is the Genomics England Research Environment? My name is Florence Cornish and I'm here with Emily Perry, Research Engagement Manager at Genomics England, to find out more. So Emily, before we dive into the Research Environment, let's set some context. Could you explain what Genomics England is aiming to do as an organisation? Emily: So, Genomics England provides genome sequencing in a healthcare setting for the National Health Service in England. As we sequence genomes for healthcare, the benefit is that we can also put that genomic and clinical data out for research in a controlled manner, and then that can also feed back into healthcare as well. So, it's really, this kind of cyclical process that Genomics England is responsible for. Florence: And so, what do we mean when we say Research Environment? Emily: So, the Research Environment is how our researchers can get access to that clinical and genomic data that we get through healthcare. So, it's a controlled environment, it's completely locked down, so it's kind of like a computer inside a computer. And in there, the researchers can access all of the data that we have and also a lot of tools for working with it in order to do their research. We refer to the data as the National Genomics Research Library, or the NGRL. The NGRL data is provided inside the Research Environment Florence: So you mentioned the National Genomic Research Library. If any listeners want to learn more about this, you can check out our previous Genomics 101 podcast: What is the National Genomic Research Library? And so Emily, could you talk about what kind of data is stored in this library? Emily: So the library is made up of both genomic data and clinical data, which the researchers use alongside each other. The genomic data includes what we call alignments, which is where we match the reads from sequencing onto a reference sequence, and variants, which is where we identify where those alignments differ from the reference sequence, and this is what we are looking for in genomic research. The clinical data includes the data that was taken from our participants at recruitment, so details of the rare disease, the cancer, that they have, but also medical history data. So, we work with the NHS and we're able to get full medical history for our participants as well. This is all fully anonymised, so there's no names, there's no dates of birth, there's no NHS numbers. It's just these identifiers which are used only inside the Research Environment and have no link to the outside world. Florence: And so how is this clinical and genomic data secured? Emily: So, as I said there's no names, there's no NHS numbers, there's no dates of birth. And we have very strict criteria for how people can use the data. So researchers, in order to get access to the Research Environment, they have to be a member of a registered institution, they have to submit a project proposal for what it is that they want to study with the data. There's also restrictions on how they can get the data out, so they do all their research inside, there's no way that they can do things like copy and paste stuff out or move files. The only way that they can get data out of the Research Environment is going through a process called Airlock, which is where they submit the files that they want to export to our committee, who then analyse it, check that it's in accordance with our rules and it protects our participants' safety and that only then would they allow them to export it. Florence: Who has access to the Research Environment? Emily: We have researchers working with the Research Environment all over the world. There's 2 kind of major groups. One of them is academia, so this will be researchers working in universities and academic institutions. The other side of it would is industry - so this will be biotech, startups, pharma companies, things like that. Florence: And finally, can you tell us about some of the discoveries that have been made using this data? Emily: There's lots of really cool things that have come out of the Research Environment. A recent story that came out of the Research Environment was the ReNU syndrome, it was initially just one family that they identified this in, and they were able to extend this discovery across and identify huge numbers of individuals who ...
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    5 m
  • Jenna Cusworth-Bolger, Tracie Miles and Rachel Peck: How are families and hospitals bringing the Generation Study to life?

    Jenna Cusworth-Bolger, Tracie Miles and Rachel Peck: How are families and hospitals bringing the Generation Study to life?
    Sep 24 2025
    In this episode, we step inside the NHS to explore how the Generation Study is brought to life - from posters in waiting rooms to midwife training. We follow the journey of parents joining the study at the very start of their baby’s life, and hear from those making it happen on the ground. Our guests reflect on the teamwork between families and hospitals, the importance of informed consent, and the powerful insights this study could unlock for the future of care and research. Our host Jenna Cusworth-Bolger, Senior Service Designer at Genomics England, is joined by: Tracie Miles, Associate Director of Nursing and Midwifery at the South West Genomic Medicine Service Alliance, and Co-Investigator for the Generation Study at St Michael’s Hospital in Bristol Rachel Peck, parent participant in the Generation Study and mum to Amber If you enjoyed today’s conversation, please like and share wherever you listen to your podcasts. For more on the Generation Study, explore: Podcast: How has design research shaped the Generation Study Podcast: What can we learn from the Generation Study Podcast: What do parents want to know about the Generation Study Blog: Genomics 101 - What is the Generation Study Generation Study official website “I think from a parent’s point of view I guess that's the hardest thing to consent for, in terms of you having to make a decision on behalf of your unborn child. But I think why we thought that was worthwhile was that could potentially benefit Amber personally herself, or if not, there's a potential it could benefit other children.” You can download the transcript, or read it below. Jenna: Hi, and welcome to Behind the Genes. Rachel: I think if whole genome sequencing can help families get answers earlier, then from a parent perspective I think anything that reduces a long and potentially stressful journey to a diagnosis is really valuable. If a disease is picked up earlier and treatment can start sooner, then that could make a real difference to a child or even Amber’s health and development. Jenna: My name is Jenna Cusworth-Bolger and today I have the great pleasure to be your host. I’m a senior service designer at Genomics England specifically working with the hospitals involved in delivering the Generation Study. In March 2023 we started with our very first hospital, St. Michael’s in Bristol. I am today joined by Tracie Miles who I had the utter pleasure of working closely with when they were setting up. And we also have Rachel Peck, one of the mums who joined the study in Bristol. Regular listeners to this podcast may already be familiar with the Generation Study but for those who are not, the Generation Study is running in England and aims to sequence the genomes of 100,000 newborn babies from a cord blood sample taken at birth. The families consented to take part will have their babies screened for over 200 rare genetic conditions most of which are not normally tested for at birth. We expect only 1% of these babies to receive a condition suspected result, but for those 1,000 families that result could be utterly life changing as it could mean early treatment or support for that condition. Would you like to introduce yourselves and tell us what it means to you to have been that first hospital open in this landmark study. Tracie, I’ll come to you first. Tracie: Hi Jenna, lovely to be with you all this morning. And for those who are listening it is early in the morning, we get up early in the morning because we never know when these babies are going to be born on the Generation Study and we have to be ready for them. So, my name is Tracie, I am the Co-Investigator with the wonderful Andrew Mumford, and we work together with a huge team bringing this study to life in Bristol. I am also the Associate Director of Nursing and Midwifery at the South West Genomic Medicine Service Alliance. Jenna: Thanks Tracie. We’re also joined today by Rachel. Would you like to introduce yourself and your baby, and tell me when you found out about the Generation Study? Rachel: Hi, thank you for inviting me. My name’s Rachel, I’m based in Bristol. My baby is Amber; she was born four months ago in St. Michael’s hospital in Bristol. I first heard about the Generation Study when I was going to one of my antenatal appointments and saw some of the posters in the waiting room. Amber is napping at the moment, so hopefully she’ll stay asleep for long enough for the recording. Jenna: Well done, that's the perfect mum skill to get a baby to nap whilst you’re busy doing something online. So, Rachel, you said you heard about the study from a poster. When you first saw that poster, what were your initial thoughts? Rachel: I thought it was really interesting, I haven’t come across anything like that before and I thought the ability to screen my unborn baby at the time’s whole genome sounded really appealing. Jenna: Fantastic. So, what happened after ...
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    41 m
  • Dr Nour Elkhateeb: What is a clinical geneticist?

    Dr Nour Elkhateeb: What is a clinical geneticist?
    Sep 10 2025
    In this explainer episode, we’ve asked Dr Nour Elkhateeb, clinical fellow at Genomics England and clinical geneticist for the NHS, to explain the role of a clinical geneticist. The previous episode mentioned in the conversation is linked below. What is the diagnostic odyssey? 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, let us know on podcast@genomicsengland.co.uk. You can download the transcript or read it below. Florence: What is a clinical geneticist? My name is Florence Cornish and I'm here with Nour Elkhateeb, clinical geneticist for the NHS and fellow at Genomics England, to find out more. So, Nour, before we dive into talking about clinical geneticists, could you explain what we mean by the term genetics? Nour: Hi Florence, so at its heart, genetics is the study of our genes and how they are passed down through families. Think of your genome as a huge, incredibly detailed instruction manual for building and running your body. This manual is written in a specific language, DNA, which is made up of millions of letters arranged in a specific order. And here is the interesting part, we all have tiny differences in our genetic spelling, which is what makes each of us unique. But sometimes a change in the instructions, a spelling mistake in a critical place, can affect health. Genetics is all about learning to read that manual, understand how changes in it can cause disease, how it's passed down through families and finding ways to help. Florence: And so, what kind of thing does a geneticist actually do? Nour: Well, the term geneticist can cover a few different roles, which often work together. Crudely speaking, you can think of two main types, laboratory geneticists and clinical geneticists. Laboratory geneticists are the incredible scientists who work behind the scenes. When we send a blood sample for genomic sequencing, they are the ones who use amazing technology to read the billions of letters in that person's instruction manual. The job is to find the one tiny spelling mistake among those billions of letters that might be causing a health problem. Clinical geneticists like me are medical doctors specialised in the field of genetics, and we work face-to-face with patients and families in a hospital or a clinic setting. You can think of us as the bridge between the incredibly complex science of the genomics lab and the real-life health journey of the person in front of them. We diagnose, manage and provide support for individuals and families who are affected by or at risk of genetic conditions. And we translate that complex genetic information into meaningful information for the patient, the family and the other doctors as well. Florence: So, let's talk a little bit more about clinical geneticists. What stage of someone's genomics journey are they likely to see you? What are some typical reasons they might get referred, for example? Nour: That's a really good question. So, people actually can be seen by clinical geneticists at almost any stage of life, and for many different reasons. Let me give you some examples. We see a lot of babies and children. A family may be referred to us if their baby is born with health problems that do not have a clear cause, or if a child is not developing as expected. And sometimes families may have been searching for answers for years, or what we call a diagnostic odyssey, but no one has been able to find a single unifying diagnosis to explain their challenges. And our job is to see if there is a genetic explanation that can connect all the dots. Florence: You touched there on the diagnostic odyssey, and I know we don't have time to dive into that right now, but if listeners want to learn more about this, then they can check out our previous Genomics 101 podcast: What is the Diagnostic Odyssey? So, Nour, we know that you see children and families in their genomics journeys. Do you see adults as well? Nour: Yes, indeed. We also see many adults who develop certain health conditions, such as cancer or certain types of heart disease, and their clinicians suspect they might be having an underlying inherited genetic cause, or it could be actually someone who is healthy themselves, but have a family history of a particular condition, and want to understand their own risk or the risk for their children and other family members. A classic example is in cancer genetics. A woman with breast cancer at a young age, or who has several family members who have also had it, she would be investigated to see if she carries a gene change that increases the risk of breast cancer and other cancers, and finding that actually would be critical for the treatment choices, and it has huge implications for her relatives. Also, a major part of our work is in the prenatal setting, so we might...
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    10 m
  • Francisco Azuaje, Karim Beguir, Harry Farmer and Dr Rich Scott: How can cross-sector collaborations drive responsible use of AI for genomic innovation?

    Francisco Azuaje, Karim Beguir, Harry Farmer and Dr Rich Scott: How can cross-sector collaborations drive responsible use of AI for genomic innovation?
    Aug 27 2025
    In this episode of Behind the Genes, we explore how Artificial Intelligence (AI) is being applied in genomics through cross-sector collaborations. Genomics England and InstaDeep are working together on AI and machine learning-related projects to accelerate cancer research and drive more personalised healthcare. Alongside these scientific advances, our guests also discuss the ethical, societal and policy challenges associated with the use of AI in genomics, including data privacy and genomic discrimination. Our guests ask what responsible deployment of AI in healthcare should look like and how the UK can lead by example. Our host, Francisco Azuaje, Director of Bioinformatics Genomics England is joined by Dr Rich Scott, Chief Executive Officer at Genomics England Karim Beguir - Chief Executive Officer at InstaDeep Harry Farmer – Senior Researcher at Ada Lovelace Institute If you enjoyed today’s conversation, please like and share wherever you listen to your podcasts. And for more on AI in genomics, tune in to our earlier episode: Can Artificial Intelligence Accelerate the Impact of Genomics? "In terms of what AI’s actually doing and what it’s bringing, it’s really just making possible things that we’ve been trying to do in genomics for some time, making these things easier and cheaper and in some cases viable. So really it’s best to see it as an accelerant for genomic science; it doesn’t present any brand-new ethical problems, instead what it’s doing is taking some fairly old ethical challenges and making these things far more urgent." You can download the transcript, or read it below. Francisco: Welcome to Behind the Genes. [Music plays] Rich: The key is to deliver what we see at the heart of our mission which is bringing the potential of genomic healthcare to everyone. We can only do that by working in partnership. We bring our expertise and those unique capabilities. It’s about finding it in different ways, in different collaborations, that multiplier effect, and it’s really exciting. And I think the phase we’re in at the moment in terms of the use of AI in genomics is we’re still really early in that learning curve. [Music plays] Francisco: My name is Francisco Azuaje, and I am Director of Bioinformatics at Genomics England. On today’s episode I am joined by Karim Beguir, CEO of InstaDeep, a pioneering AI company, Harry Farmer, Senior Researcher at the Ada Lovelace Institute, and Rich Scott, CEO of Genomics England. Today we will explore how Genomics England is collaborating with InstaDeep to harness the power of AI in genomic research. We will also dive into the critical role of ethical considerations in the development and application of AI technologies for healthcare. If you’ve enjoyed today’s episode, please like, share on wherever you listen to your podcasts. [Music plays] Let’s meet our guests. Karim: Hi Francisco, it’s a pleasure to be here. I am the Co-Founder and CEO of InstaDeep and the AI arm of BioNTech Group, and I’m also an AI Researcher. Harry: I’m Harry Farmer, I’m a Senior Researcher at the Ada Lovelace Institute, which is a think-tank that works on the ethical and the societal implications of AI, data and other emerging digital technologies, and it’s a pleasure to be here. Rich: Hi, it’s great to be here with such a great panel. I’m Rich Scott, I’m the CEO of Genomics England. Francisco: Thank you all for joining us. I am excited to explore this intersection of AI and genomics with all of you. To our listeners, if you wish to hear more about AI in genomics, listen to our previous podcast episode, ‘Can Artificial Intelligence Accelerate the Impact of Genomics’, which is linked in this podcast description. Let’s set the stage with what is happening right now, Rich, there have been lots of exciting advances in AI and biomedical research but in genomics it’s far more than just hype, can you walk us through some examples of how AI is actually impacting genomic healthcare research? Rich: Yeah, so, as you say, Francisco, it is a lot more than hype and it’s really exciting. I’d also say that we’re just at the beginning of a real wave of change that’s coming. So while AI is already happening today and driving our thinking, really we’re at the beginning of a process. So when you think about how genomics could impact healthcare and people’s health in general, what we’re thinking about is genomics potentially playing a routine part in up to half of all healthcare encounters, we think, based on the sorts of differences it could make in different parts of our lives and our health journey. There are so many different areas where AI, we expect, will help us on that journey. So thinking about, for example, how we speed up the interpretation of genetic information through to its use and the simple presentation of how to use that in life, in routine healthcare, through to discovery of new ...
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    38 m
  • Dr Harriet Etheredge, Gordon Bedford, Suzalee Blair-Gordon and Suzannah Kinsella: How do people feel about using genomic data to guide health across a lifetime?

    Dr Harriet Etheredge, Gordon Bedford, Suzalee Blair-Gordon and Suzannah Kinsella: How do people feel about using genomic data to guide health across a lifetime?
    May 13 2025
    In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single genomic record used across a person’s life to guide healthcare decisions. Drawing on conversations from Genomics England’s Public Standing Group on the lifetime genome, our guests explore what it might mean for individuals, families and society to have their genome stored from birth, and how it could transform healthcare. The discussion reflects on the potential for earlier diagnoses, better treatments and long-term prevention, alongside pressing ethical concerns such as data security, consent, and the impact on family dynamics. Participants share their views and discuss the future role of genomic data in medicine, with insights into how trust, equity and public dialogue must shape this evolving field. Our host for this episode, Dr Harriet Etheredge, is joined by Suzalee Blair-Gordon and Gordon Bedford, two members of the Genomics England’s Public Standing Group on the lifetime genome, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that helped to facilitate this work. Together, they consider the broader societal implications of lifetime genomic data, and how public involvement can help guide policy and practice in the UK and beyond. This conversation is part of our ongoing work through the Generation Study, exploring how genomics can be used responsibly and meaningfully from birth onwards. You can listen to some of our Generation Study episodes by following the links below. What can we learn from the Generation Study?How has design research shaped the Generation Study?What do parents want to know about the Generation Study? "This isn’t just a science project, it’s about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction." You can download the transcript, or read it below. Harriet: Welcome to Behind the Genes. Suzalee: I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms. Harriet: My name is Harriet Etheredge, and I am the Ethics Lead on the Newborn Genomes Programme here at Genomic England. On today’s episode I’m joined by 3 really special guests, Suzalee Blair and Gordon Bedford, who are members of Genomics England’s Public Standing Group on Lifetime Genomes, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that has helped us to facilitate this work. Today we’ll be discussing the concept of the lifetime genome. What do we mean when we say, ‘lifetime genome’? How can we realise the promise of the lifetime genome to benefit people’s healthcare whilst at the same time really appreciating and understanding the very real risks associated? How do we collectively navigate ethical issues emerging at this genomic frontier? If you enjoy today’s episode, we would really love your support. Please share, like and give us a 5-star rating wherever you listen to your podcasts. And if there’s a guest that you’d love to hear on a future episode of Behind the Genes, please contact us on podcast@genomicsengland.co.uk. Let’s get on with the show. I’ll start off by asking our guests to please introduce yourselves. Suzalee, over to you. Suzalee: Thanks, Harriet. So I am a proud mum of two kids, teacher of computing at one of the best academic trusts in the UK, and I am also a sickler, and for those who don’t know what that means, I am living with sickle cell disease. Harriet: Thank you so much, Suzalee. Gordon, over to you. Gordon: I’m Gordon Bedford, I’m a pharmacist based in The Midlands. I’ve worked in hospital and community pharmacy. I have a genetic condition, which I won’t disclose on the podcast but that was my sort of position coming into this as I’m not a parent of children, but it was coming in from my perspective as a pharmacist professional and as a member of society as well. Harriet: Thank you so much, Gordon. And, last but certainly not least, Suzannah. Suzannah: So, yes, Suzannah Kinsella. I am a social researcher at Hopkins Van Mil, and I had the pleasure of facilitating all of the workshops where we gathered together the Public Standing Group and working on reporting the outcome from our discussions, so delighted to be coming in from South London. Harriet: Thank you so much, ...
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    31 m
  • Dr Natalie Banner, Paul Arvidson, Dr Rich Gorman and Professor Bobbie Farsides: How can we enable ethical and inclusive research to thrive?

    Dr Natalie Banner, Paul Arvidson, Dr Rich Gorman and Professor Bobbie Farsides: How can we enable ethical and inclusive research to thrive?
    Apr 23 2025
    In this episode of Behind the Genes, we explore how ethical preparedness can offer a more compassionate and collaborative approach to genomic medicine. Drawing on insights from the EPPiGen Project, our guests discuss how creative storytelling methods, like poetry, have helped families and professionals navigate the complex emotional, ethical and practical realities of genomics. Our guests reflect on the power of involving patients and families as equal partners in research, and how this can lead to more inclusive, empathetic, and effective care. The conversation explores how ethics can be a tool for support, not just regulation, and how creating space for people to share their stories can have a lasting impact on healthcare delivery. Our host for this episode, Dr Natalie Banner, Director of Ethics at Genomics England is joined by Professor Bobbie Farsides, Professor of Clinical and Biomedical Ethics and Dr Richard Gorman, Senior Research Fellow, both at Brighton and Sussex Medical School, and Paul Arvidson, member of the Genomics England Participant Panel and the Dad's Representative for SWAN UK. Paul shares his poem 'Tap tap tap' from the Helix of Love poetry book and we also hear from Lisa Beaton and Jo Wright, both members of the Participant Panel. "The project gave us the tools to find a different way to get at all of those things inside of all of us who were going through that experience... It’s almost like a different lens or a different filter to give us a way to look at all those things, almost like a magnifying lens; you can either hold it really close to your eye and it gives you like a blurry view of the world that goes on and you can relax behind that and find a way to explore things in a funny way or an interesting way, but you can also go really close into the subject and then you’ve got to deal with the things that are painful and the things that are difficult and the things that have had an impact." You can download the transcript, or read it below. Natalie: Welcome to Behind the Genes. Bobbie: In an earlier conversation with Paul, he used the word ‘extractive,’ and he said that he’s been involved in research before, and looking back on it he had felt at times it could be a little bit extractive. You come in, you ask questions, you take the data away and analyse it, and it might only be by chance that the participants ever know what became of things next. One of the real principles of this project was always going to be co-production and true collaboration with our participants. Our participants now have a variety of ways in which they can transport their voices into spaces that they previously found maybe alienating, challenging, and not particularly welcoming. Natalie: My name is Natalie Banner, I’m the Director of Ethics at Genomics England and your host on today’s episode of Behind the Genes. Today I’ll be joined by Paul Arvidson, a member of the participant panel at Genomics England, Professor Bobbie Farsides, Professor of Clinical and Biomedical Ethics at Brighton and Sussex Medical School, and Dr Rich Gorman, Senior Research Fellow, also at Bright and Sussex Medical School. Today, we’ll be exploring the ethical preparedness in genomic medicine or EPPiGen Project. This project examined how the promise and challenges of genomic medicine are understood and experienced by the people at the heart of it, both the clinicians providing care and the patients and families involved. A big part of the EPPiGen Project explored using creative methods of storytelling and poetry to explore the experiences of parents of children with rare genetic conditions. We’ll discuss why the idea of ethical preparedness is crucial in genomic medicine to acknowledge the challenges and uncertainties that often accompany the search for knowledge and treatment in genomic healthcare, and to help professionals develop the skills to navigate the complex ethical considerations. If you enjoy today’s episode we’d love your support. Please like, share and rate us wherever you listen to your podcasts. Is there a guest you’d really like to hear on a future episode? Get in touch at podcast@genomicsengland.co.uk. So, I’m going to ask our fantastic guests to introduce themselves. Paul, would you like to go first? Paul: Hi, I’m Paul Arvidson. As well as my Genomics England hat, I’ve got a SWAN hat as well, I’m the dads’ rep for SWAN UK, and I’m on the poets from the EPPiGen Project. Natalie: Brilliant to have you hear today. Thanks, Paul. Rich? Rich: Hi, I’m Rich Gorman, I’m a Senior Research Fellow at Brighton and Sussex Medical School and I’ve been working on some of the research on the EPPiGen Project that looks at people’s social and ethical experiences of genomic medicine, and particularly families’ lived experiences of genomics. Natalie: Brilliant. Really looking forward to hearing from you. And Bobbie? Bobbie: Hello, I’m Bobbie Farsides, I’m ...
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    42 m
  • Vivienne Parry, Alice Tuff-Lacey, Dalia Kasperaviciute and Kerry Leeson Bevers: What can we learn from the Generation Study?

    Vivienne Parry, Alice Tuff-Lacey, Dalia Kasperaviciute and Kerry Leeson Bevers: What can we learn from the Generation Study?
    Mar 19 2025
    As of February 2025, the Generation Study has recruited over 3,000 participants. In this episode of Behind the Genes, we explore what we have learnt so far from running the study and how it continues to evolve in response to emerging challenges. The conversation delves into key lessons from early recruitment, the challenges of ensuring diverse representation, and the ethical considerations surrounding the storage of genomic data. Our guests discuss how ongoing dialogue with communities is helping to refine recruitment strategies, improve equity in access, and enhance the diversity of genomic data. Our host Vivienne Parry, Head of Public Engagement at Genomics England, is joined by Alice Tuff-Lacey, Program Director for the Generation Study; Dalia Kasperaviciute, Scientific Director for Human Genomics at Genomics England; and Kerry Leeson Bevers, CEO of Alström Syndrome UK. For more information on the study, visit the Generation Study website, or see below for some of our top blogs and podcasts on the topic: Podcast: What do parents want to know about the Generation Study?Podcast: How has design research shaped the Generation Study?Blog: What is the Generation Study? "We always have to remember, don’t we, that if people say no to these things, it’s not a failure to on our part, or a failure on their part. It’s just something they’ve thought about and they don’t want to do, and for all sorts of different reasons. And the other reflection I have about different communities is the ‘different’ bit, is that what approach works for one community may not work for another, and I think that that’s something that’s going to have to evolve over length of the study, is finding the things that are the right way, the most helpful way to approach people." You can download the transcript, or read it below. Vivienne: Hello and welcome to Behind the Genes. Alice: “And this is quite an exciting shift in how we use whole genome sequencing, because what we are talking about is using it in a much more preventative way. Traditionally, where we’ve been using it is diagnostically where we know someone is sick and they’ve got symptoms of a rare condition, and we’re looking to see what they might have. What we’re actually talking about is screening babies from birth using their genome, to see if they are at risk of a particular condition, and what this means is this raising quite a lot of complex ethical, operational, and scientific and clinical questions.” Vivienne: My name’s Vivienne Parry, and I’m Head of Public Engagement here at Genomics England, and I’m your host on this episode of Behind the Genes. Now, if you are a fan of this podcast, and of course you’re a fan of this podcast, you may have already heard us talking about the Generation Study, the very exciting Genomics England research project which aims to screen 100,000 newborn babies for over 200 genetic conditions using whole genome sequencing. Well, we’ve got more on the study for you now. What we’re doing to make it both accessible and equitable for all parents-to-be, and our plans to ensure that we continue to listen to parents, and perhaps in future, the babies as they grow up. We’ll chat, too, about emerging challenges and how we might deal with them. I’m joined in our studio by Alice Tuff-Lacey, the Programme Director for the Generation Study, and Dalia Kasperaviciute, Scientific Director for Human Genomics, both from Genomics England, and we’re delighted to welcome Kerry Leeson-Bevers, Chief Executive of Alström Syndrome UK. And I’m just going to quickly ask Kerry, just tell us about Alström Syndrome and how you’re involved. Kerry: Yes, so Alström Syndrome is an ultra-rare genetic condition. My son has the condition and that’s how I got involved. So, the charity has been around now since 1998, so quite a well-established charity, but as part of our work we developed Breaking Down Barriers, which is a network of organisations working to improving engagement and involvement from diverse, marginalised and under-served communities as well. Vivienne: And you wear another hat as well? Kerry: I do. So, I’m also a member of the research team working on the process and impact evaluation for the Generation Study. So, I’m Chair of the Patient and Public Involvement and Engagement Advisory Group there. Vivienne: Well, the multiply hatted Kerry, we’re delighted to welcome you. Thank you so much for being with us. So, first of all, let’s just have a sense from Alice Tuff-Lacey about this project. In a nutshell, what’s it all about, Alice? Alice: Thanks Viv. So, I think in the last few years we’ve seen some really big advances in the diagnoses of rare diseases through things the Genomic Medicine Service. But we know it takes about 5 years often to diagnose most of these rare conditions. What we also know is that there are several hundred ...
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    34 m
  • Dr Ana Lisa Tavares, Anne Lennox, Dr Meriel McEntagart, Dr Carlo Rinaldi: Can patient collaboration shape the future of therapies for rare conditions?

    Dr Ana Lisa Tavares, Anne Lennox, Dr Meriel McEntagart, Dr Carlo Rinaldi: Can patient collaboration shape the future of therapies for rare conditions?
    Feb 26 2025
    Rare condition research is evolving, and patient communities are driving the breakthrough. In this special Rare Disease Day episode, we explore the challenges and opportunities shaping the future of rare condition therapies. From groundbreaking gene therapy trials to the power of patient-driven research, our guests discuss how collaboration between families, clinicians, researchers, and regulators is paving the way for faster diagnoses, equitable access to treatments, and innovative approaches like nucleic acid therapies and CRISPR gene editing. With insights from Myotubular Trust, we follow the journey of family-led patient communities and their impact on advancing gene therapy for myotubular myopathy - showcasing how lived experience is shaping the future of medicine. However, while patient-driven initiatives have led to incredible progress, not every family has the time, resources, or networks to lead these research efforts. Our guests discuss initiatives like the UK Platform for Nucleic Acid Therapies (UPNAT), which aims to streamline the development of innovative treatments and ensure equitable access for everyone impacted by rare conditions. Our host Dr Ana Lisa Tavares, Clinical lead for rare disease at Genomics England, is joined by Meriel McEntagart, Clinical lead for rare disease technologies at Genomics England, Anne Lennox, Founder and CEO of Myotubular Trust and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at University of Oxford. "My dream is in 5 to 10 years time, an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested. And at that exact time, the day of the diagnosis becomes also a day of hope, in a way, where immediately the researcher that sent the genetics lab flags that specific variant or specific mutations. We know exactly which is the best genetic therapy to go after." You can download the transcript, or read it below. Ana Lisa: Welcome to Behind the Genes. [Music plays] Anne: What we’ve understood is that the knowledge and experience of families and patients is even more vital than we’ve all been going on about for a long time. Because the issue of there being a liver complication in myotubular myopathy has been hiding in plain sight all this time, because if you asked any family, they would tell you, “Yes, my son has had the odd liver result.” There were some very serious liver complications but everybody thought that was a minor issue, but if we are able to engage the people who live with the disease and the people who observe the disease at a much more fundamental level we may be able to see more about what these rare genes are doing. [Music plays] Ana Lisa: My name is Ana Lisa Tavares, I’m Clinical Lead for Rare Disease research at Genomics England and your host for this episode of Behind the Genes. Today I’m joined by Anne Lennox, Founder and CEO of the Myotubular Trust, Dr Meriel McEntagart, an NHS consultant and Clinical Lead for Rare Disease Technologies at Genomics England, and Dr Carlo Rinaldi, Professor of Molecular and Translational Neuroscience at the University of Oxford. Today we’ll be hearing about the importance of involving the patient community, particularly as new rare therapies are developed, and discussing the forward-facing work that’s happening that could have potential to unlock novel treatments for many rare conditions. If you enjoy today’s episode we’d love your support. Please like, share and rate us on wherever you listen to your podcasts. Thank you so much for joining me today. Please could you introduce yourselves. Anne: I’m Anne Lennox, I’m one of the founders of the Myotubular Trust, a charity that raises research funds for and supports families affected by the rare genetic neuromuscular disorder myotubular myopathy. Meriel: I’m Meriel McEntagart, I’m a consultant in clinical genetics in the NHS and I have a special interest in neurogenic and neuromuscular conditions. Carlo: Hi, I’m Carlo Rinaldi, I’m Professor of Molecular and Translational Neuroscience at the University of Oxford. I’m a clinician scientist juggling my time between the clinic and the lab where we try to understand mechanisms of diseases to develop treatments for these conditions. And I’m also here as a representative of the UK Platform for Nucleic Acid Therapies, UPNAT. Thanks for your invitation, I’m very pleased to be here. Ana Lisa: Thank you. Meriel, I’d love you to tell us a bit about your work and how you met Anne, how did this story start? Meriel: Thank you. Well prior to being a consultant in clinical genetics, I spent 2 years as a clinical research fellow in neuromuscular conditions, and as part of that training I worked on a project where the gene for myotubular myopathy had just been identified, and so there was a big international effort to try and come up with sort of a registry of all the genetic variants that ...
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