Episodes

  • How can genomics help us understand rare conditions?

    How can genomics help us understand rare conditions?
    Jun 10 2026
    In this explainer episode, we’ve asked Jamie Ellingford, Lead Genomic Data Scientist for Rare Disease, to explain how genomics is helping us better understand rare conditions. 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. [00:00:00] Florence: How can genomics help us better understand rare conditions? My name is Florence Cornish, and today I am joined by our Lead Genomic Data Scientist for Rare Disease, Jamie Ellingford, and he is going to be sharing lots more insights about the topic with us. So, I guess before we begin, Jamie, it might be useful if you could explain what we actually mean by the term 'rare condition'? [00:00:25] Jamie: Sure. Hi, Florence. So, a rare condition we define as something that impacts one in less than two thousand people, and so that's something that occurs really infrequently in the population. But we know that collectively there's lots of different rare diseases. And so, the estimates are that it's about one in seventeen people in the population that are impacted by some sort of rare disease, of which we think there's over seven thousand. But research that uses data that we have here at Genomics England as well as other sources is starting to uncover more and more of these individual rare disorders. So collectively, as I just said, one in seventeen individuals, we think, is impacted by a rare disease, and that equates to almost three and a half million people here in the UK. [00:01:15] Most of these rare conditions, we think, have a genetic basis, and perhaps we'll explain a little bit more about what that means. [00:01:22] Florence: Yeah, no, it would be great to talk a little bit more about that actually. So as you said, most rare conditions we think have a genetic cause, but I think it might be helpful if you could explain what we mean when we say that something 'has a genetic cause'. [00:01:35] Jamie: Of course. So maybe we go back to kind of the basics and kind of how a person is first formed. So, at that point of fertilisation, where the sex cells from mum and dad join, we inherit one copy of our genome from mum and one copy from dad, and it's the order and the composition of these letters in our genome which makes it unique to us. Most of that genome is absolutely identical to anyone else in the human population. And a small fraction of it is unique to us and is a combination of things that we've inherited from our mothers and our fathers. And when we think about genetic causes, largely, we look at those differences. And so, what is it that's different in individuals compared to the wider population that could be driving these rare conditions? [00:02:23] Florence: So could you maybe explain a little bit more about how people's genetic material, how people's genomes differ from one another? [00:02:30] Jamie: So there's lots of different ways that we can observe these genetic differences. So some of them impact individual letters, and we, we may swap a single letter for another. [00:02:41] We can also remove small sections, so it may be that a run of three or four of these letters is deleted from someone's genome. But on the opposite end of the scale, we can also see huge changes in how that genetic material looks. So perhaps a good way to think about this is as a story. And so if our, if our genome is like any kind of good fiction story that you would read, then we can have spelling mistakes that impact single words, [00:03:09] that impact whole paragraphs, or some which impact whole chapters. Lots of these different types of genetic causes can give rise to genetic conditions. And so even the smallest changes, the smallest spelling mistakes in words, can still give rise to rare genetic conditions. [00:03:26] Florence: We actually have a previous podcast episode that explores that topic in a lot more detail. So if listeners want to check that out, it's called "Are genetic conditions always inherited from parents?" So obviously, Jamie, we spoke quite a lot about DNA and genetic changes there, and this episode is all about how genomics specifically can help us better understand rare conditions. [00:03:47] Um, but what actually is genomics as a field of study? [00:03:53] Jamie: So simply put, genomics is the study of the whole genome, or at least as complete a picture of the genome as we can possibly represent. And so in the case of rare disorders, we use genomics to try and understand what the genome looks like from an affected child. [00:04:12] And, um, in some cases, we're also able to look at the whole genomes of their relatives, so ...
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    10 mins
  • How is research changing the role of midwives in maternity care?

    How is research changing the role of midwives in maternity care?
    May 27 2026
    When people think of midwives, they often think about pregnancy and birth, but the reality of modern midwifery is far broader. In this episode of Behind the Genes, our guests explore the many different roles midwives play across healthcare, from clinical care and safety improvement to research and genomics. The conversation looks at how midwives are helping shape the future of maternity care through research, supporting families to make informed decisions about genomic testing, and contributing to studies like the Generation Study. Our host, Sharon Jones is joined by: Katie Handley - maternal and child health clinical lead for the Generation Study, Fiona Smith - research midwife for the Generation Study at Rosie Hospital in Cambridgeshire Jess Fletcher - safety and quality midwife at the Rosie Hospital and a participant on the Generation Study You can find out more about the Generation Study via the study’s official website. “ The more brave we are as midwives, and the more that we're willing to be curious about what we can do to improve our care, the better we're going to be at our profession. All midwives want to do is to provide safe, effective care that is what is in the best interest of that woman. We are advocates for women and for their families.” You can download the transcript or read it below. [00:00:00] Sharon Jones: Welcome to Behind the Genes. How is genomics changing midwifery, and what role are midwives playing in shaping the future of genomic healthcare? Also, do midwives just deliver babies, or is their role much broader than many people realise? [00:00:16] My name is Sharon Jones, and in this podcast we cover everything from cutting-edge research to real life stories in genomic healthcare. [00:00:23] Joining me today are Katie Handley, Fiona Smith, and Jess Fletcher. Katie is Maternal and Child Health Clinical Lead for the Generation Study, Fiona is a research midwife for the Generation Study at Rosie Hospital in Cambridgeshire, and Jess is a safety and quality midwife at the Rosie Hospital, and a participant on the Generation Study. [00:00:42] Together, we'll be exploring how midwifery's evolving, where research fits into clinical practice, and what genomics mean for maternity care now and in the future. We kicked off this one by asking Katie what roles midwives play day to day. [00:00:56] Kate Handley: I think when people think of midwives, they think of helping a lady to have a baby. [00:01:01] We're there for the birth, we're there to catch the baby, but it is so, so much more than that. We're there from the moment a woman becomes pregnant or even before that. We can help with prenatal, uh, preconception care. We're there all the way through the pregnancy, for the birth, and then afterwards as well, we'll look after the lady, her family, until, until we hand the baby and, and her over to the health visitor or to whoever's next in her care pathway. [00:01:25] But that's just looking at clinical midwives for the... that are involved directly in that particular pregnancy. There's midwives doing all sorts of other roles. I think I'm a really good example of that. So I am a clinic- I was a clinical midwife. I am a registered midwife, but now I work as a clinical lead, so I'm using my midwifery background and my midwifery skills in a research environment, but to help people who don't know as much about midwifery to implement a research study, and how we can make a research study real in a clinical environment. [00:01:59] So that's one example, but there are so many other things, and we have midwives doing screening roles and lots and lots of midwives working in research as well. [00:02:08] Sharon Jones: That's interesting. I've got a couple of friends who are midwives, and I would never have known, like, the extent and scope of their role. [00:02:14] Kate Handley: Yeah, I think people might be surprised to hear that you can be a midwife but never actually even see a pregnant person. So we have midwives that are academics, for example, or midwives that are lecturing at universities, midwives that are working behind the scenes in risk and governance and looking after the safety aspect. [00:02:30] Sharon Jones: That's amazing. I would never have known that. So Fiona, how has your role as a midwife changed over the years? Because you've gone through quite a bit of a transition, haven't you? [00:02:39] Fiona Smith: I have. Before I even became a midwife, I was, I was nursing. That nursing pathway was not academic, as we now have to undertake academic training to become a midwife. [00:02:50] So we... the training was very different. It was very hospital-based, and this is what you do, this is what we do. You would do some observation. You'd have a go. You'd get signed off. That really was my nursing background, and then when I started to explore midwifery, and it was much more academic, and that I was going to do the university pathway, I doubted that that ...
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    34 mins
  • What does a midwife do?

    What does a midwife do?
    May 13 2026
    In this explainer episode, we’ve asked Kate Stanbury, research midwife on the Generation Study, to tell us more about the vital role that midwives play. 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 does a midwife do? My name is Florence Cornish, and today I'm joined by Kate Stanbury, who is a research midwife working on the Generation Study, and she is going to be explaining the vital role that midwives play. So, to start off with Kate, I'm sure that most of our listeners will have heard of midwives before or maybe even like come across them in healthcare settings, but it would be good to hear from you more about what a midwife actually does. Kate: Yeah, absolutely. So, a midwife is someone who provides care and support to birthing people and their families during pregnancy, labour, and after birth as well. A lot of people just think of midwives as delivering babies, but we do a lot of other stuff around that as well. There are lots of different types of midwives as well, so we've got community midwives that might come out to your home and see you and your baby. We've got specialist midwives who might have a certain medical condition that they're experts in. And then we also have people like myself who are research midwives as well. Florence: So, you talked about a couple of different types of midwives there. Could you tell me more about the specific type of midwife that you are? Kate: Yeah, so a research midwife, as the name suggests, does research, so I also look after women during their pregnancy as well. A lot of the research that we do relates to sort of high-risk pregnancies, and so we approach women for specific research studies that might have a particular characteristic that we are investigating. We also recruit patients to these studies. We look after them during their pregnancies when they're taking part in the studies, and then we follow them up after their birth as well to collect data and see if what we've done as part of the research has had an impact. Florence: And so you are working on the Generation Study, and if any listeners want to learn more about that, then they can check out our previous Genomics 101 episode, What is the Generation Study? Kate, could you tell me a little bit more about what led you to become a midwife? Like what was the journey that you took to get to this point? Kate: Yeah, so I started my degree in midwifery straight out of college. So, I was quite young at the time, I was 18. I went to university, did a three-year degree to get a bachelor's of midwifery. That is probably the most common route that people go through in terms of to become a midwife, but some people choose to do adult nursing first, and then they can do a conversion course into midwifery, which is about 18 months long as well. So that's usually the most common route. I was sort of drawn to the occupation because one of my close friends, her mum was a midwife, so I used to see her in their lounge. They used to have lots of cards and things that she would display from patients that she'd looked after, which was really nice. Florence: And so what makes you passionate about working in the Generation Study and what motivates you in your role? Kate: I think being able to have an impact on how we can improve care, I think that's really important. Obviously everything that we do is evidence-based, so that's what really drew me to become a research midwife and being able to take part in research studies that we can look back on in the future and say, “oh, I was part of that, and because of that we've been able to improve the lives of families and babies going forward.” That's really important to me. Florence: Yeah. And, and just building off of that, have there been any specific moments that have like stood out to you during your time working on the study? Kate: Yeah, I think being able to see it from its starting point, so as a research midwife as well as working on the Generation Study. I sort of see people in clinics, I tell them about the study and then they might sign up to it. But then the other half of my role is a re regional results coordinator for the Generation Study. So I might then see that patient come through to me with a condition suspected result, and being able to follow that family through their sort of patient journey, from consent taking part in the study to getting their baby into NHS care, that potentially we might be able to give treatments really quickly for a baby that might have a really rare genetic problem. And being able to see that that process works really well and improves those outcomes for that baby and that family. That's really, really something that's amazing to see and ...
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    6 mins
  • How is genomic research being guided by patient and participant voices?

    How is genomic research being guided by patient and participant voices?
    Apr 29 2026
    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 CambridgeMHRA Yellowcard BiobankNorthumberland NHS health forumOvacome HealthforumIMPRESS 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, ...
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    36 mins
  • What is the Participant Panel at Genomics England?

    What is the Participant Panel at Genomics England?
    Apr 15 2026
    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 ...
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    10 mins
  • What if a treatment created for one person could transform care for thousands?

    What if a treatment created for one person could transform care for thousands?
    Mar 25 2026
    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, ...
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    27 mins
  • What is de-identified data?

    What is de-identified data?
    Mar 18 2026
    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, ...
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    7 mins
  • Can blood cancer be inherited?

    Can blood cancer be inherited?
    Feb 25 2026
    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 CounsellorDr 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...
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    37 mins