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. 3日前

    What if a vaccine could help treat cancer?

    In this episode of Behind the Genes, we explore how personalised cancer vaccines are being developed, and how genomics and AI could help make these treatments more precise.  Our host, Florence Cornish is joined by:  Dr Victoria Goss, Associate Professor of Early Diagnosis and Translational Research at Southampton Clinical Trials Unit and head of the Southampton Clinical Trials Unit Cancer Vaccine Launchpad team  Professor Lennard Lee, Associate professor at the University of Oxford, Consultant Medical Oncologist, NHS  Ali Richards, a participant who took part in a cancer vaccine clinical trial  Together they discuss how cancer vaccines train the immune system to recognise cancer, how genomic information can help identify the unique features of an individual’s tumour, and how AI could help researchers analyse genomic data and accelerate the development of new cancer vaccines.   “The reason I said yes was because my treatment really was punishing. It was so many side effects to it. The cancer never made me feel sick, but the treatment made me really sick. So I said yes because I just wanted to help other people not have to go through what I went through.”    Transcript [00:00:00] Florence: What if a vaccine could help treat cancer? Hello and welcome to Behind the Genes, the podcast that brings you the stories, research, and innovations shaping the future of genomic healthcare. Today, we're going to be talking about cancer vaccines, how they're being developed with the help of AI, what role genomics has to play, and what it could mean for patients.  [00:00:23] Florence: I'm Florence Cornish, and joining me today we have Dr Victoria Goss, who leads cancer vaccine research at Southampton Clinical Trials Unit; we have Professor Lennard Lee, who is a medical oncologist and Associate Professor at the University of Oxford; and Ali Richards, who took part in the Southampton Cancer Vaccine Programme.  [00:00:45] Florence: I think before we get into cancer vaccines specifically, it might be good to start with the basics. So vaccines are something most of us have heard of and probably experienced as well, but we don't always necessarily understand how they work. So Lennard, can I come to you to explain what a vaccine actually is, how it works with our immune system, maybe at the most basic level for those who might not have a scientific background?  [00:01:19] Lennard: Thanks, Florence. What's a vaccine? Very, very simply, something that protects your body from disease. We've had a few when we were younger, like which protects you against meningitis or hepatitis or different types of infections that can affect children.  [00:01:36] Lennard: And it really does show that your immune system is really powerful. Every day, it looks around trying to work out what's there which shouldn't be there and takes care of it. And ideally, your immune system just works in the background without causing any problems. And so what a vaccine does is it really helps the body understand something that's abnormal.  [00:01:55] Lennard: And the vision here is that you can use this technology to hopefully patrol against cancer, because half the people out there will never get cancer. They are the maybe the lucky ones or maybe the ones with a good immune response. And so a vaccine is basically giving your immune system a wanted poster:  [00:02:11] Lennard: "This is what threat looks like. This is what you need to control".   [00:02:16] Florence: And I think you mentioned some great examples there. There are lots of common examples of vaccines people might have heard of. I think maybe the flu vaccine is probably a common one that people are thinking about in the wintertime. I think another one is maybe the HPV vaccine.  [00:02:29] Florence: Lennard, could you explain a bit more to our listeners about the HPV vaccine? What it is, how it works? I think people often think of it as a type of cancer vaccine, but actually it's targeting a virus. Is that right?   [00:02:41] Lennard: Yeah, that's correct. So this is now a vaccine which has been rolled out across the NHS, and it's actually worked really well to get rid of a few cancer types, which is incredible.  [00:02:51] Lennard: And why is that important? Well, cancer can be caused by many, many different things. Sometimes it's because you've done things like smoking or weight plays a role or just bad luck or the genes that you've inherited. But some cancer types are caused by viruses. And so many people nowadays are getting the HPV vaccine to stop cancer types like cervical cancer, hopefully head and neck cancer, and many of the rarer cancer types.  [00:03:21] Lennard: And so again, what you're doing here is you're taking the immune response, telling it the body shouldn't get this virus and hopefully prevent some of the bad consequence of getting this viral infection, like cancers.   [00:03:33] Florence: Thank you. That's really helpful to understand. So we've talked about how vaccines can be used to treat viruses, and I think most of us, when we hear the word ‘vaccine’, we probably do associate it with something that stops us from getting ill.  [00:03:46] Florence: Victoria, could you tell us about how vaccines could be used to treat cancer?   [00:03:50] Victoria: Yeah, absolutely, and it is great to be here today. Thank you. So Lennard's already sort of spoken about preventative vaccines, and when we think about cancer vaccines, we're thinking about therapeutic vaccines. So we're thinking about training the immune system to recognise the cancer as something that needs to be dealt with because cancer is really tricky because it's our own cells that have gone wrong, if you like.  [00:04:16] Victoria: But that means it also is very good at evading those signals which tell the immune system that it needs to be cleared. So the analogy that Lennard has already given of a cancer vaccine sort of creating a wanted poster sort of builds on an analogy from one of your previous podcasts where they described the immune system as like the police almost trying to catch criminals, which are the cancer cells.  [00:04:41] Victoria: And the cancer vaccine analogy builds on that. So you've created a wanted poster which is training and giving the police more information about what those cancer cells look like. And then when we think about building on that with sort of personalised cancer vaccines, which is an incredibly exciting step when we think about the development of how cancer vaccines can be used, sort of really individualised therapy going forward, that wanted poster gets even more specific.  [00:05:07] Victoria: It's almost like giving a phone number or an address for that specific cancer type that is very specific to that patient. So the therapeutic vaccine is, is targeting the immune system. It's training our immune system to recognise the cancer as something that needs to be dealt with.   [00:05:26] Florence: It's funny you mentioned that analogy because I was just about to point listeners to that episode. If anyone wants to learn more about cancer vaccines specifically, you can check out our previous Genomics 101 podcast episode called ‘What Are Cancer Vaccines?’ So Ali, I think I'd love to bring you in at this point because you have experienced this from the patient side of things.  [00:05:49] Florence: Could you tell us a little bit about your journey, your cancer diagnosis and treatment, and maybe more about the clinical trial you were part of, if you feel comfortable sharing that?   [00:05:57] Ali: Yeah, sure. Hi, Florence. It was Christmas 2015, and I felt a lump in my neck. And maybe because I'm a woman and we're always taught to treat lumps seriously, in the January I made an appointment with the GP, and she very quickly fast-tracked me through to the hospital.  [00:06:19] Ali: And January 2016, I got a diagnosis. It was a tumour on the base of my tongue at the left, and I was told it was caused by a variation of the HPV virus. So yeah, that was all a bit of a shock. I was shocked and I was scared, but I was also really angry because I look after myself. I eat well, all those things.  [00:06:45] Ali: It's just bad luck that it was a virus that my body couldn't deal with. I just, I felt guilty as well because of what I was gonna put the family through. So I had various scans and tests. I had an operation to remove my tonsils, although we soon discovered there weren't any left anyway. And they took a biopsy, which I didn't know at the time, but turned out to be important later on for the trial.  [00:07:15] Ali: Then I had to have a whole load of prep beforehand because of the impact of the treatment. So I had to have restorative dentistry, audiology tests. I had a PEG fitted, that's a feeding tube, in my stomach, and I thought, "Surely it's not going to be this bad." But that PEG, that feeding tube was a blessing in the end.  [00:07:40] Ali: And I had a mask made, and the mask fits you and basically pins you down to the radiotherapy table so you don't move when... because it's very precisely targeted at your tumour. So yeah, I went on to have five sessions of chemo, which felt quite easy. The radiotherapy was the really, really tough part. I had, uh, seven weeks of it, 35 sessions.  [00:08:08] Ali: So that was, yeah, that was a challenge.   [00:08:11] Florence: Thank you, Ali. Thank you for sharing that. I think it's always really valuable to get that patient perspective when we're talking about things like this. Lennard, I wanted to come back to you now to talk about the different types of vaccines that exist and which ones are being used specifically in the treatment of cancer.  [00:08:30] Lennard: Um, thanks, Florence. And Ali, are you 10 years now down the line since your diagnosis?   [00:08:34] Ali: Yeah, it feels good.   [00:08:37] Lennard: Congratulations.   [00:08:38] Ali: Yeah, yeah. It fe

  2. 8月12日

    What are cancer vaccines?

    In this explainer episode, we’ve asked Dr Antonio D'Alessio, Medical Oncologist at Guys and St Thomas Foundation Trust, to explain cancer vaccines and how they work. 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 are cancer vaccines and how do they work? My name is Florence Cornish, and today I'm joined by Antonio D’Alessio, who is a medical oncologist ay Guy's and St Thomas' Foundation Trust and King's College. And he's going to be telling us much more about the topic. So Antonio, before we get into cancer vaccines, I wanted to first ask you about cancer. I know it's a pretty broad term, and it refers to the uncontrolled growth of cells in the body, but maybe it would be helpful for you to explain a little bit more about what cancer actually is, like what that term means, especially for listeners out there who might not have that scientific background. Antonio: Yeah, of course. And first of all, thanks for inviting me today. Well, that's a big question. The point is that we know that in our bodies there are billions of cells, and all of these cells, they divide, they do their job, and they know when to die on schedule. The point is that sometimes there are cells that ignore this instruction and just keep reproducing and growing, and this is when cancer grows. Our bodies have systems, which is the immune system, to recognize when this happens so that the immune system can recognize the cancer cells that are growing too much. They attack them and destroy them. But unfortunately, sometimes cancer is quite clever, they manage to escape from the immune system and starts growing without control, and that's when cancer starts. Florence: And so, what are the standard treatments that we use for cancer at the moment? Antonio: Well, broadly speaking, I would say that we have three types of cancer treatments. One, it's surgery, where we just cut the cancer out. Then we have radiotherapy, where we basically induce targeted damage to the cancer. And then we have a very broad umbrella term that is systemic therapy. Systemic therapies can be chemotherapy, can be targeted therapies, and that can be immunotherapy. In particular, immunotherapy is quite exciting because over the past 20 years, we have learned how to boost the immune system of patients, so that's the white blood cells, the immune system of patients that can recognize cancer cells and attack them. Sort of imagine that cancers hide behind an invisibility cloak, and immunotherapy helps unveil the cancer so that the immune system can recognize the cancer again and attack it. And vaccines and cancer vaccines are part of this family of immunotherapy drugs. Florence: Yeah so speaking about that, I think lots of listeners might have heard of the term cancer vaccine before, obviously, its the topic of this episode. And I think the term cancer vaccine sounds very interesting and promising, but also maybe a little bit intimidating as well. So maybe you could tell me more about what a cancer vaccine is kind of at the most basic level. Antonio: Well, cancer vaccine is a vaccine, and we have received so many vaccines in our lives that our body basically has learnt already how to process a vaccine. Imagine a vaccine as a wanted poster. So, we give the body the instructions to recognise something that shouldn't be there, and the immune system knows how to do it. So, the job of the immune system is to recognize strangers in our bodies - that can be microbes, bacteria, viruses, and also cancers. And sometimes with a vaccine, we sort of help the immune system to do its job a bit better. And with vaccines, we provide the instructions to recognize these strangers in our body and help the immune system to, to get rid of them. And in particular, for cancer vaccines, we have different types of cancer vaccines. There's a family of cancer vaccines that are called preventative, where we can try to give a vaccine even before the cancer develops to reduce the risk that the cancer develops. And, this is more early in the development. While we have, another family of cancer vaccine, which are mostly mRNA cancer vaccines that are called therapeutic. So these are cancer vaccines that are given to patients who already have cancer, maybe who had the surgery for their cancers, so that the aim of the cancer vaccine is to boost immune system and reduce the chances that the cancer comes back after surgery, or, help other types of immunotherapy work better together with vaccine against the cancer. Florence: So, I think for me at Genomics England, the mRNA cancer vaccines are probably most relevant to the work that we do here as an organization. Could you explain a little bit more about how those ones work specifically? Antonio: Yeah, that's an exciting field, right? The mRNA vaccine. So, let's split this into different words, mRNA and vaccine. We have just covered what vaccine means. We just have to think mRNA as just instructions. So we give the body of the patients the instruction to recognize the cancer. And the mRNA is basically the instruction for the immune system to recognize some of the proteins that are expressed on the cancer cells, so that's the white blood cells, the own white blood cells of the patients that can be more alert and identify the cancer cells if they are around. And in particular, imagine when we give the mRNA vaccine, it's like we are giving the picture of a suspect to the police, right? The police is the immune system of the patients, and the suspect is the cancer. And so, the immune system, so the police of our body, can go around the body, can go around the bloodstream, can go around the organs, and if they see the suspect, they are, they are already alerted, and they can tackle it, attack it, and destroy it before it develops into, into a cancer that can be seen on the scans.   Florence: And are these types or other types of cancer vaccines being used in the clinic at all in real medical settings already? Antonio: Well, I wouldn't say that we are using that in clinical practice, but probably in the future we will, and we are working hard to make sure that we will be able to use cancer vaccine for our patients. At this stage, we are using cancer vaccines as part of clinical trials, and these clinical trials cover different types of cancer types, different types of setting, together with other drugs or given alone after surgery, for instance. And the NHS England, Genomics England and NIHR, they launched this massive infrastructure that is called the Cancer Vaccine Launchpad. And it is aimed specifically to match the NHS cancer patients with personalized mRNA vaccine trials, so that once we have the results of those trials and we are ready to deploy it in clinical practice, then we already have the infrastructure to do that promptly, hopefully in the next future. Florence: Mm-hmm. Yeah, so do you see a future where cancer vaccines are used in routine care? Antonio: Well, we are working towards that. And I, and I do see a future where we're going to use that. I don't know when. Probably it will take still a few years. But the, for example, in the UK and in England in particular, we have a national cancer plan, and the national cancer plan for this year has identified cancer vaccine as a top priority for our health system. And this is because this is a technology that can be scalable, that can be widely deployed once it's demonstrated to be working. And at this stage, there are still some open questions, like which cancer types in which setting, which patients would benefit from it. But once we address these open questions in clinical trials, then I do believe that we'll be able to use that in the, in the future. Florence: I think we'll finish there. Thank you so much, Antonio, for coming on and for taking the time to talk to us. Antonio: Thank you Florence, and thank you for the invite. Florence: If listeners 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.

  3. 7月29日

    What happens after a new rare genetic condition is discovered?

    Two years after researchers identified ReNU syndrome, where are we now?   In 2024, two independent research teams identified the genetic cause of ReNU syndrome, a rare neurodevelopmental condition affecting thousands of people worldwide. The discovery marked the beginning of a new chapter for families searching for answers and opened up exciting new avenues for research.  In this episode, host Sharon Jones revisits the story to explore what has happened since that breakthrough. She is joined by: Professor Nicky Whiffin, Associate Professor and Wellcome Career Development Fellow at Big Data Institute and Centre for Human Genetics, University of Oxford Christina Cox, Co-founder of ReNU Syndrome UK and parent of a child with ReNU syndrome Dr Ana Lisa Tavares, Clinical Lead for Rare Disease at Genomics England Together, they discuss how researchers around the world have built on the original discovery to deepen our understanding of ReNU syndrome, why studying the non-coding regions of our DNA is revealing previously unknown rare conditions, and how collaboration between researchers, clinicians and families is accelerating progress. They also explore how the growing ReNU community is supporting newly diagnosed families and what the future could hold for new treatments.  Links:  Previous episode detailing the discovery of ReNU Syndrome  ReNU Syndrome UK's website  Original research paper from Nicky's team in Oxford  Original research paper from the team based in New York   “It's been only two years since our paper came out about this, and in that time, there are now patient family groups that have been set up all around the world. There is the one in the UK led by Christina and the others. There's the one in the US that's led by a group of four women, and there are ones in France, Spain, like, literally all around the world. And all of these groups are also somewhat coordinated. The leads of these groups meet with each other. They've organised meetups. I've been to ones in the US, the UK, and in France. So the fact that they can mobilise all of that and create such a community so quickly is absolutely incredible.”  You can download the transcript, or read it below. [00:00:00] Sharon: In 2024, two independent research teams identified a genetic cause of a rare neurodevelopmental condition affecting thousands of people around the world. Since then, that initial groundbreaking discovery has grown into something much bigger, bringing together families, researchers, and clinicians, and building a clearer picture of what we now know as ReNU syndrome.  [00:00:26] Sharon: Welcome to Behind the Genes, the podcast that covers everything from cutting-edge research to real-life stories in genomic healthcare. I'm Sharon Jones, and in today's episode, we're looking at what's happened since that discovery, what researchers are continuing to learn, and what the future could hold for people living with  ReNU Syndrome and their families.  [00:00:46] Sharon: To help us understand more, I'm joined by Professor Nicky Whiffin, Christina Cox, and Dr. Ana Lisa Tavares. So, two papers were published around the same time for this condition. To start us off, Nicky, you worked on one of these papers. Could you explain how this journey first began?   [00:01:05] Nicky: Yeah, so this was two years ago now, back in early 2024, where two research teams, so us based in Oxford and a, a group based in New York, were both looking at the data within the National Genomics Research Library, and we both kind of somewhat simultaneously found that there was variance in this very, very small gene, it's called RNU4-2, were found in individuals with previously undiagnosed neurodevelopmental disorders.  [00:01:39] Nicky: And this was very, very striking because we initially actually identified the same single DNA change or mutation in 40 or so different individuals within the National Genomics Research Library, and we normally expect to see a whole host of different variants. We don't expect to see the same one.  [00:01:59] Nicky: So this was a really, really surprising finding. And it was through a collaboration, large scale collaboration across the world where we started contacting our other collaborators who have similar collections of patients who have been genome sequenced to ask if they had any individuals with DNA changes in this gene.  [00:02:17] Nicky: And we found some in the US, some in, in Australia, some in France and Germany. So very, very quickly built up this, this complete picture of variants in this gene, causing this rare neurodevelopmental disorder   [00:02:35] Sharon: of people finding it at the same time, what, what did that feel like?  [00:02:39] Sharon: Like, give us a ense of, like, that compelling, "We think we found something." What was that like?   [00:02:46] Nicky: I didn't believe it initially. You're always told when you're a scientist that if it looks too good to be true, it's, it's not true, and this basically lit up like a beacon. There's this particularly one DNA change that we found in, um, I think it was about 40 different individuals, and we don't really expect that to be the case.  [00:03:04] Nicky: We normally expect these genetic variants to be somewhat randomly distributed across the genome. So to find 40 individuals with exactly the same DNA change was very, very surprising. So initially, I didn't believe it. The whole team, including folks at Genomics England, spent a lot of time trying to check that these variants were real and tried to disprove the result, tried to find any other way in which any other reason why we would be seeing this.  [00:03:31] Nicky: And after a little while, we had to concede that we couldn't disprove it, so it must be true, and that, that was a very exciting moment.   [00:03:38] Sharon Jones: Was it the case that over in the States, the exact same thing was happening?   [00:03:42] Nicky: I think we found out when we were both speaking at the same conference, actually. So we didn't actually know that we, that we'd both come across the same result.  [00:03:49] Sharon: If you want to check out our previous episode on this initial discovery, you'll find a link to it in the episode description.  [00:04:00] Sharon: So Christina, tell us a bit about your situation, your family situation, and for our listeners, what ReNU is.   [00:04:05] Christina: So ReNU is, to us, is a family. We got a family when we got diagnosed with  ReNU. Beau - Arabella - already had other diagnosises, but people had always said to us, "Oh, there's something else. There's something else.  [00:04:20] Christina: We're not sure what it is, but there will be something." And then when we got  ReNU, it was like, "Oh, okay, amazing. What do we do? What is it?" Because there was only four lines on Wikipedia when we first got told about it, and there wasn't anything that, ourselves could find. So we kind of went onto Facebook and looked for groups and different people, and there wasn't really anything except for Jess in America.  [00:04:46] Christina: And then it grew, and then it kind of, we ended up finding more people in the UK and, like, all over. But for us, it didn't really change how we perceived Beau. It just made life easier. Like, knowing there was other families out there that we could find advice from and support from, and that we kind of knew what we had and going forward then, like, finding researchers and connecting with everybody.  [00:05:15] Sharon: Yeah. And for those who don't know, can you talk about what  ReNU is? Like, how does it affect Beau?   [00:05:20] Christina: So with Beau and  ReNU , it affects her with developmental delay. She's non-verbal. She's incontinent. She suffers for walking, so she can do a little bit of walking, but she needs a wheelchair It affects her mood swings.  [00:05:38] Christina: It just affects everything. Although she has it, she's still a happy, outgoing, very stubborn, just kind of "keep-going" child. But it affects her in everything, like eating, sleeping.   [00:05:51] Sharon: It sounds like life is, you know, very challenging on a day-to-day basis, lots of considerations. How did you feel when you finally got this diagnosis after years of wondering and waiting, not knowing?  [00:06:02] Christina: Finding out was, like, really emotional because it was like, "Oh, wow, so we have this diagnosis. Now what? What are we looking for? What's going to happen?" And then we were kind of like, "Oh, but there's not many people that had it." Because we found out in the August, so then it was trying to find people. But it has been life-changing to know that we're not on our own and that there is other people around.  [00:06:28] Sharon: Yeah, tell us a bit more about that. How did it feel to get that diagnosis?   [00:06:32] Christina: It was quite strange because our pediatrician rang us and said, "Oh, we've got a diagnosis. She's got RNU4-2." And we were like, "Okay, so what's that?" And she's like, "I don't really know. There's four lines on Wikipedia at the moment."  [00:06:46] Christina: She goes, "I don't like Wikipedia," but we still kind of... That was it. So then we went on a mission to find and look for where we could find support and find other families.   [00:06:58] Christina: At that point, I didn't know of anybody in the UK, and my husband found Jessica in America. What then, kind of, we had somebody to talk to, and then families in the UK kind of started appearing.  [00:07:09] Christina: So we ended up getting a whole network of people to bounce ideas off and talk about how it affects their children and what's for the future and things like that. It was really nice.   [00:07:22] Sharon: Yeah, yeah, I can imagine. So Ana Lisa, how do these findings contribute to a growing understanding of the condition?  [00:07:29] Ana Lisa: So this was an amazing discovery. Altho

  4. 7月15日

    What is genomics?

    In this explainer episode, we’ve asked Ella Davyson, Genomics Data Scientist, to explain the meaning of the term genomics. 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: What is genomics? My name is Florence Cornish, and today I'm joined by Ella Davyson, who is a genomics data scientist here at Genomics England, and she is here to explain the topic in much more detail So, Ella, we obviously both work at Genomics England. This podcast is called Genomics 101, so I guess it's fitting that we have an episode dedicated to explaining the term 'genomics'. [00:00:26] But before we get into that, I think it would be good if you could first explain what we mean by the term 'genome'. [00:00:32] Ella: Thanks, Florence. The genome is, essentially you can think of it like a manual booklet, or instructions that the body uses in how to grow, survive, and function, and this is a manual that's in every single cell within our body, and it tells our cells exactly how to divide, how to survive. [00:00:54] For example, the genome in the pancreas, in pancreatic cells will tell those cells how to produce proteins such as insulin that we need to control our blood sugar. And also, the genome within our eye cells will tell the cells how to generate photoreceptors to enable us to see. So the genome is essentially like the ultimate guide that our body uses to tell it how to create everything that we need to survive going forwards. [00:01:25] Florence: So then, what do we mean by the term 'genomics'? [00:01:30] Ella: So, genomics is essentially the study of the entire human genome. So we study its structure and also how it functions, in terms of how is this instruction manual being read by the body, and how does that result in healthy human beings that we see today. [00:01:48] Florence: So when we're talking about studying DNA, lots of our listeners might have heard the term 'genetics', which kind of also refers to the study of DNA and genes, so it might be a little bit confusing. [00:01:58] So what's the difference between the two? What's the difference between genetics and genomics? [00:02:04] Ella: So genetics is specifically the study of genes in the genome, and genes are part of the instruction manual, that specifically tell the body to produce a certain thing. So, in our insulin example, there is an INS gene, so, which is the gene in the genome or the instruction manual that specifically tells the cells to make insulin and to produce this product. [00:02:30] There are many different genes in our genome, and genetics is the study of all of these. In contrast, genomics is the study of the entire instruction manual altogether, so that includes all of the genes in genetics and also everything else in the manual. So, genetics is limited to the study of these parts of the manual that clearly encode certain proteins or products such as insulin. Genomics is the study of everything all at once, everything under the bathroom sink. So yeah, the confusion I think can arise a lot because historically when we first started looking at DNA and researching genetics, we didn't have the technology to look at the whole genome all at once, and with older sequencing technologies we would focus on particular genes that we knew important for certain diseases. [00:03:19] So in diabetes, for example, they would instead specifically look at the insulin gene and see how does this influence diabetes, rather than looking at the entire instruction manual at once. Nowadays, we do have that technology, and that is what we do here at Genomics England, just use that to look at the entire genome rather than specific subsets of the genome, so specific genes. [00:03:45] We can look at everything in its entirety. So, you can kind of think of genomics as a much broader, more complete study of genetics. [00:03:56] Florence: So speaking of genomic testing, I don't know if you saw, but in the government's 10-year Health Plan that they published last year, they predicted that genomics could play a role in up to 50% of healthcare interactions. [00:04:08] Could you tell me a bit about why genomics is important in healthcare? [00:04:12] Ella: So that's a really exciting point, and I think one that we should be all striving towards. So, genomics can play a role in healthcare in so many different ways. I think before going into each of them, it's kind of maybe important just to illustrate that our genomes between two, two people are 99.9% the same. [00:04:38] So we're both humans. We are both the same species. There is 0.1% difference between two people's genomes, and those differences underlie all the uniqueness that makes a person a unique individual. [00:04:54] So personality, appearance and also risk to different health and disease outcomes. So that is where the role of genomics can come in, is to understand how the differences between people and their genetic makeup can influence maybe their risk for being more predisposed to developing a condition. Conditions such as Cystic Fibrosis or Huntington's disease that are specifically caused by genetic variants or mutations in genes that directly cause the condition. So it's a bit more maybe obvious, if you like, about how studying genetics in those, in those conditions can directly inform on how they arise, potential ways that we can better treat them. [00:05:52] So another way that genomics can be used in healthcare is through screening. So this is being piloted at the moment in the Generation Study by Genomics England which is applying whole genome sequencing to newborn babies to look for a range of conditions which are caused by genetic changes, all of which are treatable. [00:06:13] But importantly, screening will enable clinicians and families to know about these conditions much earlier and start life-changing treatment much, much sooner. So this is kind of already beginning to be, I think it will be showcased with this study in the next couple of years and the power of this in healthcare, I think can't really be overestimated. [00:06:40] Florence: And finally, just to finish off, is there anything coming up in the field of genomics that you're especially excited about? [00:06:48] Ella: There are loads of different things that I'm excited about in the field of genomics. I think probably maybe one that's most kind of relevant to clinical care is the possibility of doing more personalised medicine with treatments. [00:07:05] Often, at the moment, we majority have kind of one treatment for all when treating certain conditions, and sometimes these treatments aren't tolerated well by some people, and also some of these treatments just don't work well in some people as well. Sometimes there's a clear reason for these things, but more often than not, it's not entirely clear why some people might benefit more for some treatments or some people don't respond or don't react well to some treatments as well. [00:07:35] And understanding more, so there's a whole field about how genomics interacts with drugs and medicines, which is called pharmacogenomics, and its aim is to understand which medicine might be most effective or well-tolerated in certain people based on their genetics. And I think that will be kind of life-changing as well for some people, who are suffering from diseases where the medication is either not effective enough or is also affecting their quality of life. [00:08:10] Florence: Mm-hmm. [00:08:10] Ella: Because that is a whole other part of it as well is that sometimes these treatments for certain conditions are really hard to tolerate. [00:08:19] Other things that I'm excited about are just the technologies that are coming out at the moment mean that we can measure and understand a whole lot more about genomics than we used to be. So now we can say this gene is influencing this disease, but sometimes, you know, it's more complicated, and we now have the technology to measure all sorts of different things, so how our environment can influence our genes and how our genes react with each other. [00:08:57] So we're just getting, we're getting able to look at more and more, and I think we'll expand our understanding in a lot of conditions that unfortunately aren't very simple. [00:09:12] Florence: Well, I think we'll finish there. Thank you so much, Ella, for coming on and for taking the time to explain genomics to us. [00:09:18] Ella: Thank you, Florence. Thanks so much for inviting me, and it was a pleasure to be on the podcast today. [00:09:23] 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.

  5. 6月24日

    Could taking aspirin halve the risk of bowel cancer?

    A daily low dose of aspirin could significantly reduce the risk of bowel cancer in people with Lynch syndrome, an inherited condition that increases the likelihood of developing certain cancers.   In this episode, we explore the findings from the landmark CaPP3 trial, hear from a participant living with Lynch syndrome, and discuss how genomics could help shift healthcare from treatment to prevention.  Our host, Sharon Jones is joined by:  Dr Katie Snape, Principal Clinician for Population Health at Genomics England  Professor Sir John Burn, Professor of Clinical Genetics at Newcastle University  Drew Hyde, participant in the Cancer Prevention Programme (CaPP3)  Links:  Listen to: How can genomics help us understand cancer?  "I think knowing is always a good thing. And obviously, I wish I'd known earlier, and then, I could have taken more measures earlier on. So I think knowledge is definitely a good thing. And it would be great if more people could be tested or could find out if they were carriers at an early age, I think."  You can download the transcript or read it below. [00:00:00] Sharon: Welcome to Behind the Genes. In today's episode, we'll explore the research which shows how a low dose of aspirin can halve the risk of bowel cancer in people with Lynch syndrome. We'll hear about the real-life impact of living with the condition, and look at how genomics can help shape a more preventative approach to care in the future. [00:00:20] I'm Sharon Jones, and to help us unpack all of that, I'm joined by our guests, Dr. Katie Snape, principal clinician for population health at Genomics England; Sir John Burn, professor of clinical genetics at Newcastle University; and Drew Hyde, a participant in the Cancer Prevention Programme, which is also known as the CaPP3 trial. [00:00:42] So to start with the basics, Katie, can you walk us through what cancer is in simple terms? [00:00:50] Katie: Sure, Sharon. So, our body is made up of cells. Those are the building blocks that, that make us as humans and other creatures and plants. And our cells need to keep dividing throughout our lifetime as our bodies are growing and working normally. [00:01:06] And so we need to have processes in place in our body where our cells can divide, but then also stop dividing when we don't need them to carry on dividing. What happens in a cancer cell is basically that cell becomes abnormal, and it doesn't follow the normal checks and balances and rules of cell division. [00:01:23] So it starts to divide and grow uncontrollably, and it can start to invade other tissues and obviously, that can cause serious consequences. [00:01:33] Sharon: We'll hear a lot more from Dr. Katie Snape in this episode. But before we move on, I just wanted to flag that there was an episode of our Genomics 101 explainer series with Katie dedicated to helping us get to grips with how genomics can help us understand and diagnose cancer. [00:01:47] Do go and check that out. We'll put a link to that in the episode description. [00:01:54] So the World Health Organization estimates between 30 to 50% of all cancers are preventable. So, Katie, when we talk about cancer being preventable, what does that actually mean? And what's an example of cancer prevention that people might already know? [00:02:11] Katie: Yeah. So some cancers are due to chance or just mistakes happening as our cells copy. [00:02:19] Other cancers are because there has been damage to the genetic information within the cell that can be caused by certain things that can cause damage to DNA. So for example, a sort of obvious answer would be skin cancer. Skin cancers can be caused by sunlight, the, the UV light in the sun, and particularly if we burn our skin or, or get sun damage to our skin, increases the chance of us developing a skin cancer. [00:02:44] So you can think of lots of other examples such as cigarette smoking and lung cancer, and so we know that there are a number of different risk factors that increase the chance of our cells developing damage and becoming abnormal cells and growing uncontrollably. So when we talk about prevention, we might think, well, could we reduce some of those risk factors and therefore reduce the chance of those cells getting damaged and becoming cancer cells? [00:03:10] So I gave the example of skin cancer. We might put sun cream on if we're going out in the midday sun, for example. That reduces the damage of the UV light onto our skin cells. Or we might help people to go into a smoking prevention programme or, you know, other risk factors, such as we know that being very overweight can increase the chance of cancer. [00:03:31] We might help people get into more exercise regimes or improve people's diets. So those are the sorts of things that we might do sort of for environmental risk factors. But we also know, particularly in this context, that sometimes people are born, they carry genetic changes within their cells that they're born with, that are inherited, that run through families, and those can also increase the chance of some cancers developing. [00:03:56] And for those people at higher genetic risk, then we might look to other ways that we might reduce that risk. We can't change the genetic changes in their cells, but we might be able to put things in place to reduce the risk for those individuals, and that might be medication, it might be surgery, or there could be other things that we might be able to offer. [00:04:15] Sharon: Yeah, and with that in mind, is there anything more, you know, that you can share about some of those risk factors that someone is more likely to develop cancer? [00:04:25] Katie: Yeah. So actually, the, the biggest risk factor for developing cancer is age. The older we get, the more times our cells have divided, the more chance there is of a copying mistake that, that, that can cause that cell to become abnormal and start growing uncontrollably. [00:04:41] And that's why cancer becomes more common the older we get. We obviously can't change our aging process. Then, as I've said, sometimes we're born with certain specific inherited factors that increase the risk. That might be one big high-risk genetic factor, such as having a cancer gene that's important for, for that process of cell division that isn't working properly. [00:05:04] Or it could be that we have multiple lower genetic risk factors that can kind of add up together to increase the risk. And those often interplay with some of those environmental factors that we've talked about, like smoking, for example, or weight, or alcohol or other things like that. So most cancers are due to aging, and then there's a sort of interplay of genetic factors, but environmental factors as well. [00:05:30] Sharon: That's really interesting to understand. And the focus of this podcast is sort of looking at kind of Lynch syndrome and what findings have come out around aspirin and having a low dose of aspirin. So I want to kind of explore what Lynch syndrome is and, and then bring in Drew to talk about his experience of having Lynch syndrome and how he got involved in the trials themselves. [00:05:49] So from what I understand, Lynch syndrome is a genetic condition that can make some people more likely to have the chances of developing into bowel cancer. And Drew, this is your opportunity to sort of talk about what that's been like living with Lynch syndrome. And, you know, I'd like to understand more about your story and how it came about that you discovered that you had Lynch syndrome, and to share with our listeners your journey. [00:06:13] Drew: Yep. So in my case, I discovered I had the colon cancer before I discovered I was a Lynch syndrome carrier Basically, at the age of 50, I noticed some change in my health. You know, I was becoming a little bit more tired. My bowel movements had changed or whatever. So, I went to the GP and the GP basically said, "Well, you're probably too young for cancer, so let's look at other alternatives." [00:06:37] And I had blood tests and I had low iron, so I was on iron tablets for three months and whatever. Then eventually I went back and finally the GP said, "Well, let's try a colonoscopy." And the colonoscopy revealed that I did actually have colon cancer. And then very quickly I had surgery and, uh, then following that, I kind of asked the question, "Well, why me?" [00:06:59] You know, I'm only 50, 51. Yeah. You know, why me? [00:07:02] Drew: And basically, I was told, "Well, it's probably genetics." And then I was referred to, you know, St George's and Katie and I had the test and discovered that I was actually a Lynch syndrome carrier, and that's why, you know, I'd got the colon cancer at the age of 50, so. [00:07:17] Sharon: I mean, that's quite a journey. I mean, how did you feel when you're already on one pathway and then having to kind of find out more, you know, what was your experiences? What was the impact on your life? How did you, how did you feel? [00:07:27] Drew: I think I was lucky in that I had a very good surgeon. I had surgery very quickly, so that was the first hurdle. [00:07:32] Then I had to go on to chemotherapy, and the chemotherapy obviously is far worse than any surgery or anything else that comes before or after. But having got through that, then I went through the St George's onto the Lynch syndrome system. So, the most important thing then really was to basically identify what that meant for me, but also because it was an inherited characteristic, what it meant for my family. [00:07:57] One thing that was interesting, and I say, you know, the, the GP was saying, "Well, you're too young to have cancer," is that there wasn't any history of cancer in my family, you know, looking at older relatives. So, you know, to be fair to the GP, that wasn't an obvious marker. So basically, yeah, it was let's, you know, find out what it means now going forward. [00:08:21] Sh

  6. 6月10日

    How can genomics help us understand rare conditions?

    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 perhaps their mother and their father. And we use this information to best detect and best prioritise variants that we think are giving rise to their genetic condition. But how we've done that has evolved and advanced a lot over time, has gone hand in hand with these remarkable developments in technology.  [00:04:37] And so a decade ago, maybe 15 years ago, the state-of-the-art technologies were to look for single spelling mistakes or to be able to survey complete genes. Nowadays, we can generate data for the whole genome, and we can do that fairly cheaply, we can do it quickly. And we rely on computational algorithms and the development of bioinformatic resources to be able to properly make sense of that data. And so there's, there's three key aspects of bioinformatics, this discipline of integrating informatics, computational technology, with biology.  [00:05:17] And so the first is, having generated some data, can we appropriately find where in the human genome that data should map to? Having done that, can we detect these differences, these small or large changes in the human genome, for that individual? And finally, can we start to make sense of those changes? Can we understand whether they exist frequently in a population or they're unique to this family and predict what potential consequence they have on a gene's function?   [00:05:47] Florence: Mm. So there's obviously lots of different components of genomics, but how can all of them help us better understand rare conditions specifically?  [00:05:59] Jamie: So as we've already touched upon, most rare diseases have a genetic basis, and we think that that estimate could be something like 80% of rare diseases have a genetic component to them. And what we've seen over the past decade and further, is that genomics has really transformed the discovery of new genomic conditions.  [00:06:20] And so being able to look at data from the whole genome has allowed us to understand new genetic, types of genetic changes, changes in new genes, which could cause these rare conditions. And what we've seen recently is that move and that transformation from genomics as a discovery tool to a tool that we use routinely and so essentially, we've moved this technology from research laboratories into the NHS and the UK healthcare system. We've really come a long way, and so, whilst we see that the amount of genetic diagnoses that we can find is really dependent on the specific disorders, broadly, we find genetic diagnoses for somewhere between a quarter and half of the individuals that are referred.  [00:07:10] What that does mean is that there's still 50% of individuals out there that get referred to these services with a rare condition where we don't find an obvious genetic answer through the implementation of genomics within healthcare.   [00:07:24] Florence: Do you have, um, a specific example you could share of where genomics has had a real impact in our understanding of rare conditions?  [00:07:33] Jamie: So I think all of us that have worked in this space for, for a long time have our own individual examples. We're recording this in 2026, and over the past two years, there's been a flurry of discoveries of genes which don't directly encode proteins, that cause a certain type of rare conditions, and so we call these non-coding genes.  [00:07:54] These genes have recently been described as a cause of kind of wide neurodevelopmental disorders, as a cause of genetic blindness, and there's ten at the time of recording, distinct rare conditions another example that I wanted to elaborate on is something that was really personal to me because it happened really early during my development as a, as a researcher and as a, somebody who looks at genomic data very early in my career, and really kind of had a profound impact on how I think about genomics and how it can be applied.  [00:08:28] And so this was an individual who was referred with a certain type of rare condition. And through the analysis of their genomic data, we identified a genetic variant in a certain gene. At the time of testing, they were in their early teenage years, and when we looked at the scientific literature, what this suggested is that other symptoms were going to develop before the age of 20.  [00:08:52] And so at this point, genomic testing had been done in a really critical window for that individual and allowed them to be referred to specialist centres, and to be managed appropriately, and that's really ended up in a good outcome.  And what's becoming more and more frequent is the opportunity for genomics to inform enrolment to clinical trials, the development of targeted treatments, and we hope that in the next decade or so we'll see an increased flurry of those activities.   [00:09:22] Florence: Yeah. So I guess, would the headline be that genomics allows us to see changes

  7. 5月27日

    How is research changing the role of midwives in maternity care?

    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 would be something that I could actually even contemplate. [00:03:15] Moving forward 20 years, here I am. I've had various roles: community midwife, running birth centres, and then more recently, the last six years, joining a university hospital which has a, a, a big emphasis on research and academic training, brought in lots of students, medical students, and others. I saw some research that was happening at the hospital and became quite curious, took the plunge, and the last two years I've been working as a research midwife, which was a real surprise to me to find that this is where I am, and to actually be working on a genomic study is an even bigger surprise. [00:03:57] If you'd asked me 20 years ago that this is where I'd be, I'd probably have laughed and said, "No, that's not something that I could even be contemplating." [00:04:07] Sharon Jones: That's fascinating. It's fascinating, the journey you've been on and how midwifery and nursing training has evolved more broadly. So Jess, how does that compare with your own journey in midwifery? [00:04:19] Jess Fletcher: Similarly, actually, like off the back of what Katie and Fiona are saying, you do kind of go into midwifery thinking that your career is going to very much look like providing labour care and catching babies, which is a wonderful part of the job. And that is very much my background, is that I have been, like, a labour and delivery midwife, usually on the birth centre or in the community doing home birth. [00:04:43] So, and never in my wildest dreams did I think that I would pivot and go into something specialist. I think you k- ... Well, in my case, certainly, I kind of fell into it, quite literally, uh, because I broke my ankle and then had- ... to work from home for quite some time. I was offered to be off sick, and I was working at a new trust, and I kind of wanted to, so to speak, keep my foot in the door. [00:05:05] And I said, "Oh, I, there must be something I can do from home." And they set me up to do some auditing, which quite frankly, a few years prior I would've ... Yeah, you couldn't have paid me all the money in the world to do auditing. And then, lo and behold, I found it so fascinating, not just the process, but kind of seeing how that then would kind of implement us in clinical practice. [00:05:28] And now I'm a safety and quality improvement midwife. My office is on a birth centre though, so it does mean that I still very much work clinically. So yeah, so a similar story. [00:05:38] We're such a highly skilled profession that we can apply it in so many different ways. And now of course, I'm on maternity leave with my third baby. [00:05:46] Sharon Jones: Congratulations. [00:05:47] Jess Fletcher: And so taking a little, a little break, but really lovely to talk about it all today actually. [00:05:52] Sharon Jones: Yeah. Thank you. Thank you for sharing that. [00:05:53] So as mentioned, alongside clinical care, midwives are, are playing this increasingly important role in research. [00:06:00] And though it's something that people might not necessarily realise and they might not associate with the profession, I'd love to explore what that actually means in practice and how midwives have become involved in this space. So Katie, where does research fit in with midwifery today, and how do midwives get involved in that space, and is that something that all midwives are engaged with? [00:06:21] Or is it a more specialist kind of pathway? [00:06:23] Kate Handley: It can be a specialist pathway, but I think what's really, really important to realise here is that every single midwife is involved in, in research, whether they realise it or not, or midwifery care, has got to be evidence-based. Everything we do is evidence-based, um, because that's what keeps midwifery care as safe as it possibly can be, and we can only get that evidence base from doing research. [00:06:46] So even if midwives aren't taking part in a research study themselves, if they're not, you know, getting consent from people to do research studies, the care that they are giving comes from research that has been done in some space. Even if that's not within the UK, it's research that has been done. So research is incredibly important. [00:07:03] That's how we evolve, um, our care, how we evolve our pathways, evolve our guidelines is through that, through that research. [00:07:11] Sharon Jones: So can you talk to the audience about what is a research midwife versus a clinical midwife? [00:07:16] Kate Handley: So a clinical midwife generally is somebody that will have hands-on care during the antenatal and intrapartum or, or postnatal period. [00:07:24] A research midwife, often that will be someone who still works on a ward, in a hospital, but is helping to put research into place. So that may be running a study and taking consent from women to take to be part of that study, and then doing whatever the study needs. Or it can b

  8. 5月13日

    What does a midwife do?

    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 what I'm really looking forward to in the future as well. Florence: Yeah, I can imagine that like getting to experience the kind of like end to end, like see it. Kate: Yeah, absolutely. Yeah. Florence: Super cool. Kate: We don't often get to follow the babies up in my line of work, so it's really nice. Florence: Yeah. Yeah. I'd also be curious to know has being involved in the Generation Study changed how you think about the space? So whether that's genomics or research or even your role as a midwife, do you see any of those things differently now? Kate: Yeah, absolutely. I think before I started this role with the Generation Study, genomics was sort of there, but I didn't really know the full details and like much in depth knowledge about genomics and how that could impact on people's health and their pregnancies and their health going forward into the future. But since doing this job, I think it's really opened my eyes to how much of an impact it can have and how much I think it could potentially improve the lives of generations to come. Florence: Well, thank you so much, Kate. I think we'll finish there, but I really appreciate you taking the time to come on our podcast. Kate: Thank you. Thanks for having me. 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.

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番組について

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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    Genomics England
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    21年 - 26年
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    100
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