Behind the Genes

Genomics England
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At Genomics England, our vision is a world where everyone benefits from genomic healthcare.  From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science.   Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.

  1. 1 DAY AGO

    How is genomic research being guided by patient and participant voices?

    In this episode, we celebrate 10 years of the Participant Panel and explore how genomic research is being guided by patient and participant voices.  Made up of people who have consented for their genome, or the genome of their loved one, to be included in the National Genomics Research Library, the Panel plays a vital role in shaping how research is designed, how data is used, and how genomics is communicated. From influencing policy discussions to to advising the Genomics England board, their work helps ensure lived experience is embedded from the very beginning.  Over the past decade, the Panel has driven meaningful change. From advocating for greater transparency and accessibility, to challenging how the genomics community talks about genetic conditions. But beyond the impact, this episode focuses on the people behind the work: their motivations, experiences, and the realities of representing a wider community.  Our host, Sharon Jones is joined by:  Kirsty Irvine – Chair of the Participant Panel and member of the NHS Genomic Medical Service People and Communities Forum  Lisa Beaton - member of the Participant Panel, panel member for the North East and Yorkshire GMSA and research and development for Harrogate Hospital Foundation Trust  Frances Allan – member of the Participant Panel and member of the following:  CRUK Women+s Cancers PPIE at Cambridge MHRA Yellowcard Biobank Northumberland NHS health forum Ovacome Healthforum IMPRESS cancer diagnostic tool study participant  You can find out more about the Participant Panel in our recent Genomics 101 episode which Lisa featured in, titled ‘What is the Participant Panel?’, and you can read about their timeline of achievements over the last 10 years.   “One of the things as participants that we're always really keen to get across, particularly to the scientists, is that behind every piece of data is a face and a name”   You can download the transcript, or read it below. Sharon Jones: This time on Behind the Genes, we'll be celebrating the 10th anniversary of the Participant Panel, and we'll discuss how genomic research is being guided by patient and participant voices. The panel is made up of participants whose data is held in the National Genomic Research Library. They help us to put lived experience at the heart of our work. My name is Sharon Jones, and in this podcast we cover everything from cutting-edge research to real-life stories in genomic healthcare. Joining me this time are Kirsty Irvine, chair of the Participant Panel, and Frances Allan and Lisa Beaton, who are also both members. Collectively, they wear many hats for a range of organisations, which are listed in the episode description. As you'll hear, this one is all about people power. So back in 2016, the Participant Panel was in its infancy, with 12 founding members bringing lived experience of rare conditions. The idea was straightforward but radical: that the people whose genomes were being sequenced should have a real say in how the work was done. Over the decade since, the Panel has shaped some significant changes, from pushing for a service that let participants track their own samples, to publishing a language guide that changed how the genomics community talks about genetic conditions and disability. They've navigated the pandemic, welcomed new members and, in 2025, launched their first formal strategy. This year they mark their 10th anniversary, and today we're hearing from some of the people who've been part of that story. So welcome Kirsty, Frances and Lisa. So what was your reason for joining the Participant Panel? And I will ask Frances that. Frances Allan: Hi Sharon. I joined the Panel back in 2023 following a cancer diagnosis, and as part of that investigation I was fortunate enough to have a whole genome sequence performed. And they also asked would I be interested in taking part in a panel who look after this information, and I ticked the box and then thought no more of it. And then a month or so later I heard from the then Chair, Jillian, um, and had a chat about genomics and joined the Panel, and it was a very good decision that I made. Sharon Jones: Did you have any kind of expectations? What were your early thoughts when you kind of accepted? Frances Allan: Not many thoughts. So I was in the middle of my chemotherapy treatment, but one of the things that really stood out: when I signed the consent form, I said, well, of course I would do that. And the clinician consenting me, said, actually, not everybody does. And I thought, well, why would they not want to do that? So I was really interested in finding out about that. I had no idea how influential the Panel was, and that was great to discover as I became part of it. But seeing the breadth of the research and the knowledge already gained, compared to my rudimentary A-level Biology from many, many years ago, gave me incredible hope, um, and really helped me through a very difficult, difficult time. Sharon Jones: Yeah, that's, that's amazing. It's amazing that you could kind of think in that way whilst you were actually going through the treatment itself. I mean, how did you split yourself in that way? Frances Allan: I think it gave me a sense of, of purpose. So at the time, I'd, I'd stopped working to have my treatment and I was a, a vet previously, so I was used to thinking about medical things and problem solving, and it, it filled a, a void in my life. I had no idea I'd be able to contribute to it. I thought, well, I'd learn something from it. But, you know, the, the Panel is managed very well. Kirsty's a fantastic Chair. Everybody gets an opportunity to speak, and the attendance can be in person. And I've done most of them in person. When I was poorly I attended an online meeting, but even that is managed so well that you get a chance to speak up. If you're not feeling well enough, then you can, you can add it to the chat or email. So it's very, very inclusive and a very supportive environment, as well. Sharon Jones: Yeah, it sounds like a, a very safe space to be in. And Lisa, what was your reason for joining the Participant Panel? Lisa Beaton: I think it was sort of one of those, bit of a light bulb moment for me thinking, yeah, I could do that. I'm not quite sure why I felt I was qualified to do that, but my reasoning is slightly different than Frances. So I joined the 100,000 Genomes Project back in 2015 in respect of one of my children who has an undiagnosed, thought to be neuromuscular, syndrome. Um, so myself, my husband and our daughter recruited for genetic sampling, and over the years I've sort of taken a keen interest in all things genetic and genomic related, followed on kind of various social media platform. And I think if memory serves, I saw an announcement or an advert stating, do you want to be part of the Participant Panel, clicked on the link and thought, this is something that really resonates with me. I've served with different hats on different kind of participant groups and speaking events, and it's something I feel really, it's an overused phrase, but I do feel really passionate and strong about it because, you know, we are the people who are the front and centre of this, because it's our genetic information. So I applied, did a bit of a kind of resume of myself, um, then had huge imposter syndrome and thought, oh, that'll be the last I'll ever hear of that. And uh, actually had a really lovely interview with some of the then, uh, members of the Panel and must have said a few of the right things, 'cause here I am, three years down the line. Sharon Jones: That's amazing. Has it lived up to your expectation? How has it, how has it helped you get through what sounds like a really challenging time? Lisa Beaton: It's, it probably sounds wrong to say I, I didn't really have an expectation, but I joined it really just wanting to kind of know more and see if I could find out more details, more information, kind of more genomic discovery, and hope that I could give something back, if that doesn't sound too cringey. I think one of the things I'm always really keen to say is that you don't need to be a geneticist. You don't need to be a scientist. You don't need to kind of have lots of scientific information. And I will confess that the very first meeting I went to, I did come away thinking, I think I probably only understood about one word in three. But three years down line as I say, I'm still here, and it's been good to challenge myself and to explore kind of things that I don't know information about, but also I found that there are areas that I can definitely bring lived experience to and, and hopefully a voice for people like myself and my family. Sharon Jones: Yeah. That's so important. It sounds like you've become a bit of an expert by, uh, experience there. Has your vocabulary improved in the last three years? Do you know more words now? Lisa Beaton: Yes. Uh, I've, I have to remind myself not to use an acronym. It's one of my pet peeves. You know, when you're, you're in a, a meeting and terminology or, or vernacular, that is not necessarily something that people would use day-to-day, and I think lots of you know, you don't, don't have to be genomics or genetics to, um, using acronyms for things. It's something we all need to remind ourselves that just because you know that expression, somebody else doesn't. So it's really important to kind of keep that at a, a lay explanation so that everybody understands it. Um, I think particularly with quite heavy subject matter such as genomics and genetics, there can be a tendency otherwise for people to feel that it's not for them. And of course it is, because it's about our own personal data. Sharon Jones: Yeah, absolutely. And, um, and coming to you, Kirsty, what were your kind of motivations for, for joining the Participant Panel? Kirsty Irvine: Well, it's been quite a lo

    36 min

  2. 15 APR

    What is the Participant Panel at Genomics England?

    In this explainer episode, we’ve asked Lisa Beaton, Panel Member and Parent Representative for SWAN UK, to tell us about the Participant Panel. 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 the Participant Panel at Genomics England? My name is Florence Cornish and today I'm joined with Lisa Beaton, who is a Parent Representative for Syndrome Without a Name, Swan UK, and a member of the Participant Panel. And we have a special episode today because it is to celebrate the 10th anniversary, so a decade of the Participant Panel at Genomics England. Lisa, I think it would be good to start with a quick rundown of what the Participant Panel is. If you had to describe it in a few sentences, what would you say? Lisa: Ooh, that's tricky actually, to cram all our wealth of expertise and knowledge into that, I guess in just a few sentences. But essentially, we are a group of lay people who have all contributed by way of being on genomic studies, such as the 100,000 Genome, for our data to be held in the NGRL, the National Genomic Research Library. We may have joined because our children or another family member have a disorder or a syndrome or a condition that requires further genetic testing. So, there are panel members who represent from different cancer communities, there's panel members who have connections with rare disease, and then there's panel members like myself who come from the undiagnosed community, where we joined to essentially try and find a diagnosis in respect of our daughter. The majority of us don't have any kind of medical background. We're all just individuals who collectively are really interested in where genomics and genetics is going to take us in the future. But probably most importantly, we all feel a sense of responsibility to ensure that there's equity of access, to diversify, to basically ensure that the lived experience of real-life people become more than just the data point to the scientific and research community. We, we are real people. Florence: Yeah. And could you explain a little bit more about the practical role of the panel? So what you aim to do as a group and what it involves to be a part of it? Lisa: Certainly. So as a panel, we meet either in person or on Teams approximately four times a year. So quarterly. We also get to listen to what we call 'Lunch and Learns', which have been absolutely fascinating. It's different people from different areas of the scientific and research community who will come along and talk to us about their latest discovery or what new things have been found. What's in pipelines, what we can be looking forward to. There's all sorts of different aspects of that. So currently a project that's been quite well known in the news is the Generation Study, the study of newborns. There have been research interviews and meetings around cancer studies. It's really exciting actually because every time there's something kind of new to learn or to see where progress is going, and that is just, I guess that's what most of us are there for, really just to see it in action. The role of the panel really is there to hold accountability, to ensure that, you know, data is being kept in a safe and secure manner, to ask any questions that we have about that. I think probably, we are all just members of the public, so our interests are widely there to ensure, you know, we're representing what we feel we would want to know, and therefore, hopefully in connection with what other members of who have kindly donated their genetic information and material towards studies so we, we can hold that agency for them and just to get more information, knowledge, share that out there with power. Power to the people, as it were! Florence: I'm interested if there's anything in particular that comes to mind that the panel has achieved that you are especially proud of, or that you are the most proud of. Lisa: Again, I think to squash that into just kind of one or two sentences is probably impossible, because there's so many things that panel members are proud of. One of the things that has definitely, we feel made a huge difference is the Plain Language Guide. We are absolutely adamant that, you know, everything should be as clear and easy to understand as possible. It's all very well having all the, the science and researchers who, you almost speak like a different language. For us, to get that passionately back to everybody who, who can be involved at different levels. You know, if you've contributed your time, your information, your DNA to research, then everybody who's done that, whether they speak English as a first language or second language, or if they have any kind of say, learning disability or just different socioeconomic experience, et cetera, it's really key that across the board everybody can, can access the language and terminology that is used around genetics. To summon up a point that has been used time and again, but is so, so crucial: nothing about us, without us. Florence Cornish: I can confirm, I'm a very big fan of the Language Guide. I use it all the time, I share it all the time. It's amazing, and you should be very proud of it. Lisa: Well, we definitely are. When I first joined the panel, one of the things I found really hard was I came into a room and I already had a bit of imposter syndrome. There were lots of terms being flung around in kind of, and acronyms. It's something we all do in everyday life, and you know, the more used to them you are the more you use them. But actually it's to go back and remind ourselves what those are. You don't want to be sort of 10 steps behind because you're constantly having to go back and, and look something up. So if you've got that guide there with you, if we ensure that everything is written as plainly and simply, whilst not dumbing anything down, just ensuring that it is accessible, that's incredibly important. Florence: Yeah, completely. So it's been really great to hear about what the panel does and, and the vital role that they play, and you've given a really great example there. But I thought it might also be nice to hear about what being part of the panel has meant for you and how it's impacted you just as a person, I guess, if you feel comfortable to share more about that. Lisa: Yes, definitely. So as I said, when I joined the panel, I did have a bit of imposter syndrome. Um, I don't have a medical background. I've gained 17+ years of medical experience because of our undiagnosed child, and I suppose I've gleaned quite a lot of information along the way, but clearly I'm not a geneticist. I'm not a doctor. I know what I know and I'm comfortable with that. I think joining the panel for me gave me back some of who I am as a person. Over the years, I've been 'mum' a lot of the time. Medical professionals in particular face-to-face, utilise that term. And I know it's not meant in any kind of patronising way, but being part of the panel has, has made me become sort of myself as a person again, I'm more than just 'mum'. It's enabled me to meet with fellow parents and caregivers and kind of share that common bond. Although we all come from different pathways and walks of life, be that the cancer pathway or the rare disease pathway, or the undiagnosed pathway, or in our case a combination of rare and undiagnosed, we share so many different things in common and our experience of commonalities, even if we've come about it from a different pathway, and that gives agency and strength, I think to us as individuals. We know what we are going through, that lived experience, that real voice really brings it back and I know from chatting to members of Genomics England and being at different networking events that they really hear us when they meet us, we are so much more than just the data. Florence: Yeah. Thank you for sharing that. And in connection to that, I just wanted to finish off by giving you the opportunity to say, is there one thing that you wish people knew about patient advocacy in general? Lisa: Yes, come and join us would be my message. We need more people. We definitely need more diversity. We want to hear from everybody and anybody, you know, genetics, genomics affects all of us. By 2035, I think it is, that it's predicted that more than 50% of medical such encounters will be with a genomic connection. And so to ensure that, you know, we are representing all members of communities across the board, we need more and more people particularly people of different backgrounds, would be something that I would be very keen to see the panel kind of move and diversify into. Florence: And so, for anyone listening that does want to get involved, how would they go about doing that? Lisa: So, I think there's probably quite a number of ways. I personally saw some information on Facebook. They're across different social media - X, Instagram, et cetera. So, there's definitely more information there. Obviously type in their website, Genomics England, and there's different links on the pages there. And come, come and join us. We're a very friendly bunch. Florence: Thank you so much, Lisa, for sharing more about the Participant Panel and the vital role they play and have done for the last 10 years. Lisa: Thank you so much for inviting me to be a part of this. Florence: If you want to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk or wherever you get your podcasts. Thank you for listening.

    10 min

  3. 25 MAR

    What if a treatment created for one person could transform care for thousands?

    In this episode, we explore how individualised medicines are evolving from “n=1” treatments (a treatment effective for a single individual) into approaches that could transform care for many people living with rare conditions.  Advances in genomic medicine are making it possible to design highly targeted treatments based on an individual’s genetic information. While these therapies may begin as bespoke solutions for a single patient, they can often be adapted, refined or reused to benefit others with similar conditions.  While the research is evolving, the systems needed to deliver these treatments at scale are still catching up. From regulation to access, our guests discuss what needs to change to turn this potential into reality.  Our host Sharon Jones, is joined by:  Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England  Mel Dixon, Participant Panel member and CEO and Founder of Cure DHDDS  If you enjoyed today’s conversation, please like and share wherever you listen to your podcasts.  “However rare your condition is, someone has a right to have hope. Everybody should have a hope that we should be able to find a treatment.” You can download the transcript or read it below. Sharon: What if treatments once designed for just one person could now help many others? Thanks to advances in genomic medicine, regulations are changing and research is expanding. This opens up more options for treatments for rare conditions. But what does this mean and how close is real change? I'm Sharon Jones, and this is Behind the Genes. We look at how genomics is changing healthcare, covering everything from cutting-edge research to real-life stories. Individualised medicines are a fast-moving area, but there's still a big gap between scientific progress and what's actually happening to patients. You could call it the gap between hype and hope. Ana Lisa: However rare your condition is, someone has a right to have hope. Everybody should have a hope that we should be able to find a treatment. Sharon: Coming up, we'll hear from Ana Lisa Tavares, Clinical Lead for Rare Disease Research at Genomics England, and Consultant in Clinical Genetics at Cambridge University Hospital, as well as Mel Dixon, member of the Participant Panel at Genomics England and CEO and founder of Cure DHDDS. Mel opens this chat by explaining why developments in individualised healthcare really matter to her. Mel: This issue is really personal to me. I have three children, two of whom are affected with an ultra-rare DHDDS gene variant, for which there is currently no treatment. Their condition causes symptoms such as, well, it varies between mild to severe learning difficulties, seizures, tremors, and movement and coordination difficulties. But the, the most worrying thing for us was that this condition is actually also progressive. So over time it becomes more of a Parkinsonism and some patients experience dementia-like symptoms and psychosis. So for us to get a treatment that targets the genetic cause of, of their condition is, like, the most important thing in, in our lives. If we could intervene now, they could potentially, at the stage they're at, you know, live an independent life with, with some supports. But if the disease is left to progress, it would be a very different outcome for them. Sharon: I mean, that sounds so difficult and I can't even imagine how life is for you and your family. And I can see what is driving you to find anything to extend the life of your children and to give them that opportunity to, to have a better quality of life. And then Lisa. Ana Lisa: It's a huge burden for families to carry. And I think at the moment there's an additional layer of burden, which shouldn't fall on families, to feel like they need to forge a pathway for their child to have a chance of a treatment. That's, that's a lot to bear. Mel: I think as well, families feel they almost have to become mini scientists in their children's specific condition overnight, because you go to these appointments with the consultants and nobody's heard of the condition and they don't know, they just don't really know what to do with you. So they're asking you, you know, so tell me about this, this gene change. What, what does it do? What does it mean? So you have to become the mini professor in your child's condition to be able to advocate for them. We've had to really learn on our feet so that we're able to advocate and push for research into DHDDS, because without us doing it, nobody else was going to be. Sharon: Yeah. So that's, you know, that's partly what we're here and what this podcast is for, it's here to support families to, to understand this stuff. And Ana Lisa, can you just break it down to us, what is individualised medicines? Ana Lisa: An individualised medicine that's made for one individual person. In reality, sometimes there are other individuals that can also benefit from the same medicines, and sometimes actually, although the medicine is made for one specific person, it might be made using a strategy that other patients could also benefit from, either directly, exactly the same, even, or through tweaking them so that they could work for a different patient. In the context that they're most often referred to at the moment, they're therapies that are being made based on the genetic information about somebody. Sharon: Thank you. I mean, that sounds amazing. And now coming to you, Mel, what does receiving a diagnosis mean for a family? And how do you navigate the space between finally having answers and the reality that the treatment may not yet exist? Mel: So for us, I think, we went down the, the diagnostic route in the hope that we would be able to find a treatment for our children, or there would already be a treatment in place. But unfortunately when we got their diagnosis, we were told that their, their condition was ultra rare, neurodegenerative and also newly discovered. So there was, there was no treatment pathway and actually minimal research happening into it at the time. So it was frustrating, upsetting, um, and it felt like quite a hopeless situation at the start, but actually this was just over three years ago. And through a lot of proactiveness on our part in fundraising, we've been able to better understand the condition and we now have treatments in the pipeline. So in that three-year window, from there being nothing, we now have treatments both in terms of potential drug repurposing candidates and also, um, an individualised therapy called an ASO is also in development for them. So it was hard, but it's given huge benefit to us. Otherwise, we'd just be going, remaining going from specialist to specialist without having any answers or understanding why their symptoms were progressing. Sharon: I mean, that sounds really, really tough and you know, coming back to you, Ana Lisa, could you talk us through how genomics is changing the way we can treat rare conditions? You know, what types of individualised medicines now exist and how do they even work? Ana Lisa: Maybe I'll start with how some of these medicines are working. So with, without going into details, but the sort of principle that these medicines might be able to, to do something called gene editing. So our, our DNA, uh, the instruction manual is made up of genes and it's now can be possible scientifically to change even a single DNA letter code in somebody to try and ameliorate the symptoms of their rare condition. You know that's phenomenal scientific progress to be able to do that. I think a lot of people have heard about gene therapy, where one is trying to get into the body a gene or part of a gene that might be able to sort of replace the function of a gene that isn't working as it should. There are various other strategies. So our DNA is actually used to send messages to our body, if you like, to, to decode these instructions. And so there are medicines that target the next step in this process, the RNA, which are the ASO therapies that Mel was referring to earlier. And really what those are doing are either trying to correct for a protein in our body that isn't working as it should, or to try and get rid of one that shouldn't be there. And so they can act in different ways. And that's actually quite powerful, because you can, theoretically, use these strategies to correct for different genetic rare conditions. So I think going to the sort of first part of your question, maybe if I can phrase it as "directly at source". If you can go upstream and target in a very direct way the cause of a rare condition, then actually you might be able to apply those same principles to many different types of rare condition. We know that there are, you know, 8,000 as a very ballpark number of rare conditions, and it might be that these strategies could be used I don't want to say for all rare conditions, but for many rare conditions where we find the genetic cause, these strategies could collectively be a very powerful way to treat them. And traditionally we've had to understand all the underlying biology, find a druggable target, find a drug that could target that, that's safe, effective, et cetera. And that's a lot of work. And that's still very, very valuable. If we were going to do this for these thousands of conditions, it would probably take us hundreds to thousands of years, collectively. And these strategies provide a lot of hope for being able to do this in a, in a more efficient way, where we can actually use the information used to treat one rare condition and apply those learnings to another rare condition. Sharon : I mean, that's really helpful to understand. So if the science is there, why aren't more patients benefiting from it yet? You know, what's standing in the way from your perspective? Ana Lisa: That's a really good question, and it's complex because the, our whole ecosystem i

    27 min

  4. 18 MAR

    What is de-identified data?

    In this explainer episode, we’ve asked Georgia Chan, Senior Data Wrangler at Genomics England, to explain what de-identified data 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. 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 do we mean by de-identified data?   My name is Florence Cornish, and today I'm here with Georgia Chan. Georgia is Senior Data Wrangler here at Genomics England, which just means that she cleans up and adds structure to complicated data so that it becomes usable, and she is going to be telling us much more about the topic of de-identified data.  Georgia, I think it would be a good place to start by talking about the National Genomic Research Library, which is the library that we at Genomics England store data in. So maybe you could explain more about that and what kind of data is in there.   Georgia: Sure. Thanks Florence. So, we have genomic data.  Genomic data is information that comes from a person's DNA. It helps us understand how the body works and why disease happens. This can include whole genome sequencing data, variants found in genes, small differences that make each of us unique, and information about how genes function or how they differ between people.  Genomic data does not include a person's name or who they are. It's biological information, not identity, and it's used to understand health and disease. It's really important to note that by nature, it's nature, genomic information is incredibly rich. We all have millions of common genetic variants, but your whole genome is unique to you. So although genomic data alone can't directly identify you, it still counts as personal data under data protection.   We also have clinical data. Clinical data provides real world context for the genomic data. It shows what's happening in someone's health. This can include diagnosis of a disease or a symptom, treatments that have been received, health outcomes over time, such as remission or progression, and this clinical data that help researchers see how genetic differences relate to symptoms, treatment response, and long-term outcomes.   So, we have both of these kinds of data. Genomic data on its own can be hard to interpret, and clinical data on its own only tells part of the story. Together, they allow researchers to better understand how diseases develop, helps them discover new or more targeted treatments, and it helps them improve diagnosis, care, and outcomes.  And this is why both types of this data are used together in the National Genomic Research Library.   Florence: And so, both of these data types, both clinical and genomic, we say that they are de-identified. But what exactly does that mean?   Georgia: Yes, good question. De-identified data means that information which directly identifies a person has been changed or removed from a health record before researchers can access it.  And in practice, it means that researchers cannot see who the person is. The data cannot be used to contact individuals, and a person's identity is protected by design, which means that necessary safeguards are embedded into every stage of a service or process. So, researchers work with the data, but not with people's identities.  Florence: Could you tell me a little bit more about why it's so important to de-identify data in this way?   Georgia: Sure. De-identification creates a safe middle ground. It means that data can be used to improve healthcare whilst people's privacy and trust is respected. So, without de-identification, every new research question would require individual contact and large-scale, long-term research would be extremely difficult.  With de-identification, we reduce the risk of someone being identified. We prevent inappropriate use of data, and we ensure that data is used only for approved research.   And it's important to note also that it sits alongside a list of other safeguards, so that helps ensure data is used responsibly, such as secure Research Environment, strict access control, independent ethical and governance approvals. And all of those safeguards are provided in Genomics England's Research Environment.   Florence: I think a common question that people might have, or a question that I definitely had when I first heard the term, is how de-identified data is different from anonymous data.   Georgia: Yes, it is a good question. So, anonymised data cannot be linked back to an individual and is no longer considered personal data, whereas de-identified anonymised data, it has identified as hidden from researchers, but it can still be relinked by a trusted authorised organisation if needed.   So, in healthcare research, de-identification is often preferred because it allows long-term follow up. It also allows updates as new health information becomes available, and also allows corrections or withdrawals when they occur and when they're appropriate.  Florence: So say a researcher did find something in the data that they might want to feedback, how can we re-identify that participant? What does that process look like?   Georgia: Researchers cannot re-identify participants themselves. At Genomics England, if researchers do make a new discovery that could help an individual, for example, a possible diagnosis for a rare condition, we have an in-house clinical team who can link back to that individual's details and work with their NHS clinicians to establish if this new insight can be fed back.  So if something clinically important is discovered, research is reported through a formal governance process, and then a trusted authorized team, not the researchers who re-identify the participant, and this ensures that researchers never know who the participant is and individuals remain protected.  Whilst important findings can still benefit patients, and this would only happen when it's ethically approved and clinically appropriate.   Florence: Great. Well, I think we'll finish there. Thank you so much, Georgia, for taking the time to talk us through the meaning of de-identified data and why it is so important to protect participants.  Georgia: Thank you, Flo. And let's remember that de-identified data isn't about hiding information. It's about using it responsibly.   Florence: Absolutely. If you want to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk or wherever you get your podcasts. Thank you for listening.

    7 min

  5. 25 FEB

    Can blood cancer be inherited?

    Blood cancers are the fifth most common group of cancers in the UK. But for a small number of people, the condition may have an inherited genetic cause.  In this episode of Behind the Genes, we explore the role of genetics in blood cancer, and what an inherited risk means for patients and their families. Our guests explain what blood cancer is, how inherited factors can increase risk, and why multidisciplinary teamwork is key to supporting families. They also look ahead to future advances, from whole genome sequencing to prevention trials.  Our host Amanda Pichini, Clinical Director at Genomics England, is joined by:  Dr Katie Snape, Principal Clinician at Genomics England and Consultant Cancer Geneticist  Bev Speight, Principal Genetic Counsellor Dr Sarah Westbury, Consultant Haematologist “By doing whole genome sequencing we get all of the information about all of the changes that might have happened, we know whether any are inherited, but importantly, we’re certain of the ones that have just occurred in the cancer cells and can help guide us with their treatment.”  You can download the transcript or read it below. Amanda: Hello, and welcome to Behind the Genes.  Sarah: When we think about blood cancers, it’s a whole range of different conditions and when you talk to patients who are affected with blood cancers or are living with them, their experiences are often really different from one another, depending in part on what kind of blood cancer they have.  We also know that blood cancers affect not just the cell numbers but also the way that those cells function, and so the range of symptoms that people can get is really variable.  Amanda: I am your host, Amanda Pichini, clinical director at Genomics England and genetic counsellor.  Today I’ll be joined by Dr Katie Snape, principal clinician at Genomics England and a consultant cancer geneticist in London, Bev Speight, a principal genetic counsellor in Cambridge, and Dr Sarah Westbury, and haematologist from Bristol.  They’ll be talking about blood cancers and the inherited factors that increase blood cancer risk.  If you enjoy this episode, we’d love your support, so please subscribe, rate and share on your favourite podcast app.  Let’s get started.  Thanks to everyone for joining us today on this podcast, we’re delighted to have so many experts in the room to talk to us about blood cancer.  I’d love to start with each of you introducing yourself and telling us and the listeners a little bit about your role, so, Sarah, could we start with you?  Sarah: Sure.  It’s great to be here.  My name’s Sarah Westbury, and I’m a consultant haematologist who works down in Bristol.  And my interest in this area is I’m a diagnostic haematologist so I work in the laboratories here in the hospitals, helping to make a diagnosis of blood cancer for people who are affected with these conditions.  And I also look after patients in clinic who have different forms of blood cancer, but particularly looking after families who have an inherited predisposition to developing blood cancer.  And in the other half of my job, I work as a researcher at the University of Bristol.  And in that part of my job, I’m interested in understanding the genetic basis of how blood counts are controlled and some of the factors that lead to loss of control of those normal blood counts and how the bone marrow functions and works.  Amanda: Thank you.  That’s really interesting, we’ll be looking forward to hearing more about your experience.  Bev, we’ll come to you next.  Bev: Thank you.  Hello everyone, I’m Bev Speight, I’m a genetic counsellor, and I work at Addenbrooke’s Hospital in Cambridge.  I work with families with hereditary cancers in the clinical genetic service, and for the last six years or so have been focused on hereditary blood cancers.  So we’ve been helping our haematologists across the region to do genetic tests and interpret the results, and then in my clinic seeing some of the onward referrals that come to clinical genetics after a hereditary cause for blood cancer is found.  I’m also part of the Council for the UK Cancer Genetics Group.  Amanda: Thank you, Bev.  And Katie, over to you.  Katie: Hello, I’m Katie Snape.  I’m a genetics doctor and I am a specialist in inherited cancer.  So we look after anyone who might have an increased chance of developing cancer in their lifetime due to genetic factors.  I am the chair of the UK Cancer Genetics Group, so that’s a national organisation to try and improve the quality of care and care pathways for people with inherited cancer risk in the UK.  And I have a special interest in inherited blood cancers through my work at King’s College Hospital, I work in the haematology medicine service there seeing individuals who might have or have been diagnosed as having an inherited component to their blood cancers.  So it’s great to be here.  Amanda: Excellent, thank you for those introductions.  I’d like to then dive right in and understand a little bit more about blood cancers.  So, Sarah, could you tell us a little bit more about what blood cancer is?  Sarah: Yes, sure.  The term blood cancer is used to describe a whole range of different kinds of cancer, all of which affect some part of the blood or sometimes parts of the immune system that kind of gets represented as part of the blood.  So it’s really describing a big group of conditions rather than one single kind of condition or entity itself.  But like any form of cancer, we understand blood cancers as being conditions where because cells as part of the blood system are rapidly dividing and normally doing so under really well controlled circumstances to produce just the right balance of blood cells and just the right number of those cells.  In a cancer affecting those cells, we see that that loss of control results in either too many of one type of blood cell being produced or too few, or that balance being lost.  And like any form of cancer, this is because of genetic changes that happen in individual cells that then go on to grow in a way that is not controlled and well regulated.    And because when we talk about blood cancer we’re talking about such a wide range of different kinds of cancer affecting different cells within that blood system, there’s a really wide range of different conditions.  From conditions that we might think of as being like a form of acute leukaemia, so something that produces often symptoms and signs in patients very quickly and they can often feel quite unwell quite soon and then get picked up with having this condition because they present feeling unwell.  All the way to chronic and slow growing cancers that can be found completely by chance and serendipity when blood tests are done for other reasons.  So when we think about blood cancers, it’s a whole range of different conditions.  And when you talk to patients who are affected with blood cancers or are living with them, their experiences are often really different from one another, depending in part on what kind of blood cancer they have.  We also know that blood cancers affect not just the cell numbers, but also the way that those cells function.  And so the range of symptoms that people can get is really variable, again depending on which of the blood cells are really affected by that.  And it may be that during the course of some of the conversations we have today in this podcast, we’ll perhaps focus on particular kinds of blood cancer.  But like any cancer, it’s that disruption of the normal growth and development of cells that means that the number and function of those blood cells has been disrupted in some way.  Amanda: Thank you so much for explaining that, Sarah, that’s really helpful.  In terms of across the range of blood cancers, is that something that people can get at any age, and how common is it?  Sarah: It does depend, as we were sort of talking about that really wide range of different disorders that make up that group of blood cancers.  And individually each of those blood cancers is reasonably uncommon compared to cancers that we might typically think of, like breast cancer or colon cancer.  But actually, if you group blood cancers together, they make up quite a sizeable proportion, and they’re actually as a group the fifth most common form of cancer that’s diagnosed in people in the UK.  In adults in particular we think that perhaps people diagnosed with leukaemia would make up about 3% of the new diagnosis of cancer made in any year.  Amanda: So coming to you, Bev, when we talk about inherited blood cancers, what are the differences between those and blood cancers more generally?    Bev: So at point of diagnosis, it may not be obvious that somebody with a new blood cancer diagnosis is one of the minority of people in that big group as Sarah has described, who has an inherited cause.  So it may not be immediately obvious.  However, in the last few years certainly, it’s become more and more routine to do quite broad genetic testing.  Often on a bone marrow sample or blood, because that is done looking for genetic changes, which are part of all cancer and we find within cancer cells, that can help with treatment planning.  It can also find that there is an inherited cause to that new blood cancer diagnosis.  Sometimes that might not be clear cut, sometimes that might be inferred from the genetic tests that are done on the blood or the bone marrow. And the proportion of blood cancers in that huge group which do have an inherited cause is fairly small, the actual proportion will depend a bit on the age of the patient and the specific

    37 min

  6. 11 FEB

    What is informed consent?

    In this explainer episode, we’ve asked Réka Novotta, Research Ethics Operations Manager at Genomics England, to explain what informed consent 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. 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 do we mean by informed consent? My name is Florence Cornish, and today I'm here with Réka, who is Research Ethics Operations Manager here at Genomics England, and she's going to be telling us much more about it.   I think it would first be helpful Réka, if you could explain the word consent.   Réka: The broad definition of consent is that it's the voluntary agreement given by an individual to participate in a particular activity.  We all probably give consent to a lot of different things each day without really realizing it. So, you go on to read the news in the morning, and the website asks for your consent to process cookies. You maybe go to a routine GP appointment later, and you stick your arm out for them to measure your blood pressure. Maybe you even go to a podcast and you give consent to a host to record your voice. So, these are all based on affirmative action made by you while taking into consideration the information that's available to you.   The technical definition of consent often includes that it's freely given, meaning that you are not coerced. That it’s specific, meaning when you stick your arm out for your doctor, you're only agreeing to that part of the examination, and perhaps most importantly, that person needs to be adequately informed for the consent to be meaningful.  Florence: So you gave lots of really interesting examples there. I think it would be good to understand what we mean by informed consent and where this distinction comes in. How does it differ?  Réka: By informed consent, we mean that the person consenting has been provided with all relevant and necessary information about the activity, in a format that is accessible and understandable for them.   And that latter part of the sentence is really important, because if you go to the doctor and the doctor speaks to you in French, if you speak French, then wonderful, you have all the information that you need. But if you don't, even though the information is technically there, you not understanding it makes it impossible for your consent to be informed.   Similarly, if you think about maybe an older person who's not familiar with technology, if they see a QR code, they might not necessarily know what to do with it, even if it would technically lead to all of the information that they would ever want to know about Genomics England.  Florence: So you mentioned Genomics England, obviously we both work for Genomics England, this is a Genomics 101 podcast. So what do we mean by informed consent in the context of genomics? Where does it come into play?  Réka: So if we think about informed in a traditional research study, they test a drug, the treatment either works or it doesn't work, and there's analysis of that data, and that's sort of the end of the process.  With genomics, there's a huge amount of information that gets generated and analysed, and the field itself is rapidly evolving. So we may not have an answer today, but we might do tomorrow, which puts our participants' data in the research resource that we manage in a really unique position.   Because of that, it's even more important perhaps for this consent to be ongoing. Consent is often incorrectly considered a tick box exercise, where you receive information, you consider the information, you make a decision, and that's sort of it. Whereas for genomics, it's important that it is an ongoing conversation and it doesn't just stop at the signing of a form.   We also employ what's called a broad consent model. Genomics England manages the National Genomic Research Library, which rather than being a single study, is a resource for a wide range of research uses. It allows us to gain permission via the informed consent conversations for the storage and the use of data and samples for upcoming studies that we don't yet know about.  And this eliminates the need to reconsent each participant every time a researcher starts to use their data for a new research project, and in turn, and this also feeds back to the need for ongoing conversation, a fully informed consent is very hard to achieve at the time of consenting.  Florence: So you mentioned the National Genomic Research Library, and we actually did a previous explainer podcast episode about this. So, if listeners would like to learn more about it, you can check out our previous Genomics 101 episode: What is the National Genomic Research Library?   Réka, I'd be interested to know, are there any challenges related to informed consent that are specific to the field of genomics?  Réka: Yeah, so there’s many fascinating challenges. There's one that I really want to highlight, which is the family aspect. It's a lot more pronounced in genomics than it is in traditional medicine. The information that you receive, it doesn't only affect you, but it also affects your parents, your siblings, your existing, or even your future children, which is quite unique, and there's a challenge in how we articulate that without causing further anxiety.  Florence: So speaking of the challenges there, the family aspect and the fact that genomics as a field is rapidly evolving, I think this highlights how important it is that we embed informed consent into our practices.   Could you tell me a bit about how we're doing this at Genomics England?  Réka: We follow best practice in informed consent called information layering, where we provide materials for our research in different formats. And this can ensure that participants can get the depth of understanding that they need, without feeling overwhelmed by a massive amount of information from the outset.  So this includes longer and shorter information sheets, providing materials and training for healthcare professionals so that they can have conversations with potential participants. We also have lots of different copy on our website. We have videos, and this podcast as well.  And it's all part of what we call patient and public involvement and engagement or PPIE, which means that we co-produce our materials involving members of the public and patients in the design of our materials, making sure that they present accessible and understandable information.  It is really important for us not to, as you say, mark our own homework. What makes sense to one person might not make sense to another, and it's important to get lots of different perspectives. And I just wanted to shout out the Participant Panel who's a committee of wonderful people who help us, and also keep us accountable in everything that we do.  Florence: What would happen if say, somebody gave informed consent for their data to be stored in the National Genomic Research Library, but then they change their mind and they want to take it back? What would happen then?  Réka: So we offer 2 types of withdraw from a resource. There is an option to withdraw partially or to unsubscribe, which means that you can leave your de-identified donated data for researchers to analyse, but not receive any updates or contact from us going forward.   You can also decide to withdraw your participation fully, and that's where we make your data unavailable for future research. One of the key pillars in informed consent and the consent model that Genomics England employs, is that research participants can withdraw their consent to participate at any time without giving us a reason.  So, it doesn't matter if you submit your request on a website or on a paper form or if you call us, we will respect your decision with no questions asked.  Florence: Thank you so much for coming on and for walking us through the meaning of informed consent, and why it's so important in the context of healthcare and research.  If you want to learn more about terms we use in genomics, check out our other podcasts at www.genomicsengland.co.uk, or, wherever you get your podcasts. Thank you for listening.

    8 min

  7. 28 JAN

    What Does the Diagnostic Odyssey Really Mean for Families?

    In this special episode, recorded live at the 2025 Genomics England Research Summit, host Adam Clatworthy is joined by parents, clinicians and researchers to explore the long, uncertain and often emotional journey to a genetic diagnosis. Together, they go behind the science to share what it means to live with uncertainty, how results like variants of uncertain significance (VUS) are experienced by families, and why communication and support matter just as much as genomic testing and research. The panel discuss the challenges families face when a diagnosis remains out of reach, the role of research in refining and revisiting results over time, and how collaboration between researchers, clinicians and participants could help shorten diagnostic journeys in the future. Joining Adam Clatworthy, Vice-Chair for the Participant Panel, on this episode are: Emma Baple – Clinical geneticist and Medical Director, South West Genomic Laboratory Hub  Jamie Ellingford – Lead genomic data scientist, Genomics England  Jo Wright – Member of the Participant Panel and Parent Representative for SWAN UK  Lisa Beaton - Member of the Participant Panel and Parent Representative for SWAN UK  Linked below are the episodes mentioned in the episode:  What is the diagnostic odyssey?  What is a Variant of Uncertain Significance?  Visit the Genomics England Research Summit website, to get your ticket to this years event. You can download the transcript, or read it below. Sharon: Hello, and welcome to Behind the Genes. My name is Sharon Jones and today we’re bringing you a special episode recorded live from our Research Summit held in June this year. The episode features a panel conversation hosted by Adam Clatworthy, Vice-Chair of the Participant Panel. Our guests explore navigating the diagnostic odyssey, the often-complex journey to reaching a genetic diagnosis. If you’d like to know more about what the diagnostic odyssey is, check our bitesize explainer episode, ‘What is the Diagnostic Odyssey?’ linked in the episode description. In today’s episode you may hear our guests refer to ‘VUS’ which stands for a variant of uncertain significance. This is when a genetic variant is identified, but its precise impact is not yet known. You can learn more about these in another one of our explainer episodes, “What is a Variant of Uncertain Significance?” And now over to Adam. -- Adam: Welcome, everyone, thanks for joining this session. I’m always really humbled by the lived experiences and the journeys behind the stories that we talk about at these conferences, so I’m really delighted to be hosting this panel session. It’s taking us behind the science, it’s really focusing on the people behind the data and the lived experiences of all the individuals and the families who are really navigating this system, trying to find answers and really aiming to get a diagnosis – that has to be the end goal. We know it’s not the silver bullet, but it has to be the goal so that everyone can get that diagnosis and get that clarity and what this means for their medical care moving forwards.    So, today we’re really going to aim to demystify what this diagnostic odyssey is, challenging the way researchers and clinicians often discuss long diagnostic journeys, and we’ll really talk about the vital importance of research in improving diagnoses, discussing the challenges that limit the impact of emerging research for families on this odyssey and the opportunities for progress. So, we’ve got an amazing panel here. Rather than me trying to introduce you, I think it’s great if you could just introduce yourselves, and Lisa, I’ll start with you. Lisa: Hi, I’m Lisa Beaton and I am the parent of a child with an unknown, thought to be neuromuscular, disease. I joined the patient Participant Panel 2 years ago now and I’m also a Parent Representative for SWAN UK, which stands of Syndromes Without A Name. I have 4 children who have all come with unique and wonderful bits and pieces, but it’s our daughter who’s the most complicated. Adam:  Thank you. Over to you, Jo. Jo:  Hi, I’m Jo Wright, I am the parent of a child with an undiagnosed genetic condition.  So I’ve got an 11-year-old daughter. 100,000 Genomes gave us a VUS, which we’re still trying to find the research for and sort of what I’ll talk about in a bit.  And I’ve also got a younger daughter. I joined the Participant Panel just back in December. I’m also a Parent Rep for SWAN UK, so Lisa and I have known each other for quite a while through that. Adam:  Thank you, Jo.  And, Jamie, you’re going to be covering both the research and the clinician side and you kind of wear 2 hats, so, yeah, over to you. Jamie:  Hi, everyone, so I’m Jamie Ellingford and, as Adam alluded to, I’m fortunate and I get to wear 2 hats. So, one of those hats is that I’m Lead Genomic Data Scientist for Rare Disease at Genomics England and so work as part of a really talented team of scientists and engineers to help develop our bioinformatic pipelines, so computational processes. I work as part of a team of scientists and software engineers to develop the computation pipelines that we apply at Genomics England as part of the National Health Service, so the Genomic Medicine Service that families get referred to and recruited to, and we try to develop and improve those. So that’s one of my hats. And the second of those is I am a researcher, I’m an academic at the University of Manchester, and there I work really closely with some of the clinical teams in the North West to try and understand a little bit more about the functional impact of genomic variants on kind of how things happen in a cell. So, we can explore a little bit more about that but essentially, it’s to provide a little bit more colour as to the impact that that genomic variant is having. Adam: Great, thank you, Jamie. Over to you, Emma. Emma: My name’s Emma Baple, I’m an academic clinical geneticist in Exeter but I’m also the Medical Director of the South West genomic laboratory hub, so that’s the Exeter and Bristol Genomics Laboratory. And I wear several other hats, including helping NHS England as the National Specialty Advisor for Genomics. Adam: Thank you all for being here. I think it’s really important before we get into the questions just to ground ourselves in like those lived experiences that yourself and Jo and going through. So, Lisa, I’m going to start with you. The term ‘diagnostic odyssey’ gets bandied around a lot, we hear about it so many times, but how does that reflect your experience that you’ve been through and what would you like researchers and clinicians to understand about this journey that you’re on, essentially? Lisa: So I think ours is less an odyssey and more of a roller-coaster, and I say that because we sort of first started on a genetic journey, as it were, when my daughter was 9 weeks of age and she’s now 16½ – the half’s very important – and we still have no answers. And we’ve sort of come a bit backwards to this because when she was 6 months old Great Ormond Street Hospital felt very strongly that they knew exactly what was wrong with her and it was just a case of kind of confirmation by genetics. And then they sent off for a lot of different myasthenia panel genes, all of which came back negative, and so having been told, “Yes, it’s definitely a myasthenia, we just need to know which one it is,” at 4 years of age that was removed and it was all of a sudden like, “Yeah, thanks, sorry.” And that was really hard actually because we felt we’d had somewhere to hang our hat and a cohort of people with very similar issues with their children, and then all of a sudden we were told, “No, no, that’s not where you belong” and that was a really isolating experience. I can remember sort of saying to the neuromuscular team, “Well is it still neuromuscular in that case?” and there was a lot of shrugging of shoulders, and it just…  We felt like not only had we only just got on board the life raft, then we’d been chucked out, and we didn’t even have a floaty. And in many ways I think I have made peace with the fact that we don’t have a genetic diagnosis for our daughter but it doesn’t get easier in that she has her own questions and my older children – one getting married in August who’s already sort of said to me, you know, “Does this have implications for when we have children?”  And those are all questions I can’t answer so that’s really hard. Adam:  Thank you, Lisa. Yourself, Jo, how would you describe the odyssey that you’re currently experiencing? Jo: So my daughter was about one when I started really noticing that she was having regressions. They were kind of there beforehand but, I really noticed them when she was one, and that’s when I went to the GP and then got referred to the paediatrician. So initially we had genetic tests for things like Rett syndrome and Angelman syndrome, which they were all negative, and then we got referred on to the tertiary hospital and then went into 100,000 Genomes. So we enrolled in 100,000 Genomes at the beginning of 2017, and we got our results in April of 2020, so obviously that was quite a fraught time. Getting our results was probably not as you would want to do it because it was kind of over the phone and then a random letter. So, what I was told in that letter was that a variant of uncertain significance had been identified and they wanted to do further research to see if it might be more significant. So we were to be enrolled into another research project called Splicing and Disease, which wasn’t active at the time because everything had been put on hold for COVID, but eventually we went into t

    27 min

  8. 31/12/2025

    Reflecting on 2025 - Collaborating for the future of genomic healthcare

    In this special end-of-year episode of Behind the Genes, host Sharon Jones is joined by Dr Rich Scott, Chief Executive Officer of Genomics England, to reflect on the past year at Genomics England, and to look ahead to what the future holds.  Together, they revisit standout conversations from across the year, exploring how genomics is increasingly embedded in national health strategy, from the NHS 10-Year Health Plan to the government’s ambitions for the UK life sciences sector. Rich reflects on the real-world impact of research, including thousands of diagnoses returned to the NHS, progress in cancer and rare condition research, and the growing momentum of the Generation Study, which is exploring whether whole genome sequencing could be offered routinely at birth.  This episode offers a thoughtful reflection on how partnership, innovation, and public trust are shaping the future of genomic healthcare in the UK and why the years ahead promise to be even more exciting.  Below are the links to the podcasts mentioned in this episode, in order of appearance:  How are families and hospitals bringing the Generation Study to life? How can cross-sector collaborations drive responsible use of AI for genomic innovation? How can we enable ethical and inclusive research to thrive? How can parental insights transform care for rare genetic conditions? How can we unlock the potential of large-scale health datasets? Can patient collaboration shape the future of therapies for rare conditions? https://www.genomicsengland.co.uk/podcasts/what-can-we-learn-from-the-generation-study “There is this view set out there where as many as half of all health interactions by 2035 could be informed by genomics or other similar advanced analytics, and we think that is a really ambitious challenge, but also a really exciting one.”  You can download the transcript, or read it below. Sharon: Hello, and welcome to Behind the Genes.   Rich: This is about improving health outcomes, but it’s also part of a broader benefit to the country because the UK is recognised already as a great place from a genomics perspective. We think playing our role in that won’t just bring the health benefits, it also will secure the country’s position as the best place in the world to discover, prove, and where proven roll out benefit from genomic innovations and we think it’s so exciting to be part of that team effort.  Sharon: I’m Sharon Jones, and today I’ll be joined by Rich Scott, Chief Executive Officer at Genomics England for this end of year special. We’ll be reflecting on some of the conversations from this year’s episodes, and Rich will be sharing his insights and thoughts for the year ahead. If you enjoyed this episode, we’d love your support, so please subscribe, rate, and share on your favourite podcast app. So, let’s get started.  Thanks for joining me today, Rich. How are you?  Rich: Great, it’s really good to be here.   Sharon: It’s been a really exciting year for Genomics England. Can you tell us a bit about what’s going on?  Rich: Yeah, it’s been a really busy year, and we’ll dive into a few bits of the components we’ve been working on really hard. One really big theme for us is it’s been really fantastic to see genomics at the heart of the government’s thinking. As we’ll hear later, genomics is at the centre of the new NHS 10-year health plan, and the government’s life sciences sector plan is really ambitious in terms of thinking about how genomics could play a role in routine everyday support of healthcare for many people across the population in the future and it shows a real continued commitment to support the building of the right infrastructure, generating the right evidence to inform that, and to do that in dialogue with the public and patients, and it’s great to see us as a key part of that.  It’s also been a really great year as we’ve been getting on with the various programmes that we’ve got, so our continued support of the NHS and our work with researchers accessing the National Genomic Research Library. It’s so wonderful to see the continued stream of diagnoses and actionable findings going back to the NHS. It’s been a really exciting year in terms of research, publications. In cancer, some really exciting publications on, for example, breast cancer and clinical trials. Really good partnership work with some industry partners, really supporting their work. For me, one of the figures we are always really pleased to see go up with time is the number of diagnoses that we can return thanks to research that’s ongoing in the research library, so now we’ve just passed 5,000 diagnostic discoveries having gone back to the NHS, it really helps explain for me how working both with clinical care and with research and linking them really comes to life and why it’s so vital.   And then, with our programmes, it’s been great to see the Generation Study making good progress. So, working with people across the country, more than 25,000 families now recruited to the study, and we’re beginning to hear about their experiences, including some of the families who’ve received findings from the programme. It’s really nice to see and hear from Freddie’s family, who talked to the press a bit about the finding that they received. Freddie was at increased risk of a rare eye cancer, and really pleasingly, it was possible to detect that early through the screening that was put in place. Again, it really brings to life why we’re doing this, to make a difference and improve health outcomes.  Sharon: That’s an incredible 12 months. Diving into that Generation Study piece and for listeners who don’t know what that is, it’s a research study in partnership with the NHS that aims to sequence the genomes of 100,000 newborn babies. On an episode from earlier in the year, we had mum, Rachel Peck, join the conversation, whose baby Amber is enrolled on a study. Let’s year from Rachel now.  Rachel: From the parents’ 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 the potential it could benefit other children.  Sharon: Consent has been such a big area of focus for us, Rich, and Rachel touches on that complexity, you know, making a decision on behalf of her unborn child. Can you talk a bit about our approach to consent in the Generation Study and what’s evolving in that model?  Rich: Yeah. It’s been for the whole study, really, starting out asking a really big question here, what we’re aiming to do is generate evidence on whether and if so, how whole genome sequencing should be offered routinely at birth, and that’s responding to a really ill need that we know that each year thousands of babies are born in the UK with treatable rare conditions. We will also need to see if whole genome sequencing can make a difference for those families, but we realise to do that, as with all screening, that involves testing more people than are going to benefit from it directly themselves. So, you have to approach it really sensitively. There’s lots of complicated questions, lots of nuance in the study overall. One of them is thinking really carefully about that consent process so that families can understand the choices, they can understand the benefits and risks. This is still a research study. We’re looking to understand whether we should offer this routinely. It’s not part of routine care at this point. The evidence will help decision-makers, policymakers in the future decide that.  At the beginning of the programme, we spent a lot of time talking to families, talking to health professionals who understand the sorts of decisions that people are making at that time of life, but also are experts in helping think about how you balance that communication. That involved, as I say, a lot of conversations. We learnt a lot, lots of it practical stuff, about the stage of pregnancy that people are at when we first talk to them about the study, so that people aren’t hurried and make this decision. What we’ve learnt in the study, right from the outset, is talking to people from midway through the pregnancy so that they really have time to engage in it and think about their choice. So, it’s an important part of getting the study design right so that we run the study right. It’s also a really crucial element of the evidence that will generate from the study so that we can understand if this is something that’s adopted, how should we communicate about it to families. What would they want to know? What’s the right level of information and how do we make that accessible in a way that is meaningful to people from different backgrounds, with different levels of interest, different accessibility in terms of digital and reading and so on. There’s a lot that we’ve learnt along the way and there’s a lot that we’re still learning. And as I say, important things that we’ll present as evidence later on.  Sharon: Thank you. It’s fascinating there are so many moving parts and a lot to consider when you’re building the design of a programme like this or study like this.  Earlier in the year you had a great conversation with Karim Beguir about the developments of AI in genomics. Let’s revisit that moment.  Karim: We live in an extraordinary time. I want to emphasise the potential of scientific discovery in the next two or three years. AI is going to move, let’s say, digital style technologies like coding and

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At Genomics England, our vision is a world where everyone benefits from genomic healthcare.  From the latest research to the lived experiences of those affected by rare conditions and cancer, Behind the Genes brings you closer to the people behind the science.   Each month, we release a deep-dive episode, alongside our Genomics 101 series - short explainers designed to make complex terms in genetics and genomics easier to understand.

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  • Creator
    Genomics England
  • Years Active
    2021 - 2026
  • Episodes
    100
  • Rating
    Clean
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    © Copyright 2021 All rights reserved.
  • Show Website
    Behind the Genes

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