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Behind the Genes

Behind the Genes

By: Genomics England
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We are Genomics England and our vision is to create a world where everyone benefits from genomic healthcare. Introducing our refreshed podcast identity: Behind the Genes, previously known as The G Word. Join us every fortnight, where we cover everything from the latest in cutting-edge research to real-life stories from those affected by rare conditions and cancer. With thoughtful conversations, we take you behind the science. You can also tune in to our Genomics 101 explainer series which breaks down complex terms in under 10 minutes.Copyright 2021 All rights reserved. Biological Sciences Science Social Sciences
Episodes
  • Ana Lisa Tavares and Mel Dixon: What if a treatment created for one person could transform care for thousands?

    Ana Lisa Tavares and Mel Dixon: 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
  • Georgia Chan: What is de-identified data?

    Georgia Chan: 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
  • Amanda Pichini, Dr Katie Snape, Bev Speight, and Dr Sarah Westbury: Can blood cancer be inherited?

    Amanda Pichini, Dr Katie Snape, Bev Speight, and Dr Sarah Westbury: 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
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