Behind the Genes

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 in the genome that maybe more traditional genetic tests wouldn't have allowed us to see, and then that in turn helps us with our approaches to rare conditions? 

[00:09:37] Would you say that that's accurate?  

[00:09:40] Jamie: So it certainly gives us that opportunity.  

[00:09:42] Florence: So I think we'll finish there, Jamie. Thank you so much for coming on, for taking the time to speak with us. It's been very insightful.  

[00:09:50] Thank you very much. A pleasure to chat.  

[00:09:52] 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. 

[00:10:03]

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 be actually conducting their own research, it can be writing, it can be an academic form of, of midwifery as well.

[00:07:49] It's really, really important, and it really depends on the hospital and on the trust how much that research is incorporated into the clinical care, and sometimes it can be quite separate. But both very, very important. And the Royal College of Midwives are really, really trying to work on making research part of general midwifery care.

[00:08:09] It's something that undergraduates need to do now as part of their, their degree, which all midwives have to do a degree to become a midwife. They have to do research. They have to be involved in research. Midwives in their first year of being qualified should still be having a research role and looking at how research can broaden their clinical skills, and it's something that should be going on throughout their entire career

[00:08:32] Sharon Jones: Yeah, that's great.

[00:08:33] Fiona, what does a typical day look like in your kind of research-focused role?

[00:08:38] Fiona Smith: Firstly, just to say, when I moved from a clinical role into the research role, I thought I was going to miss that kind of adrenaline rush that does come with being a clinical midwife. And so I thought, it-- this is so quiet, it's just a really very different pace.

[00:08:54] But actually, there are deadlines and things like that. So yeah, on a daily basis, it is really... it's a really busy day.

[00:09:02] So we can be answering our emails and inquiries about research. We're liaising with the clinical team, so I'm involved in a screening study, so we, we need to collect samples. So we go and collect samples, we register those samples.

[00:09:19] We're then approaching our patients or ladies that come in to have scans, or they might be in the antenatal ward. We liaise with the community midwives who might have people that want to take part in the study, so we do a lot of communication with the women through that way.

[00:09:38] And having the background as a midwife, having that holistic approach has really, really broadened, you know, and really helped support my role as a midwife. Having-- transferring those skills has been incredible.

[00:09:53] Sharon Jones: So what kind of studies do midwives support?

[00:10:03] Fiona Smith: So apart from the genomic studies, uh, because a, a lot of genetic-based studies are going on within our trust. Where they're looking at trying to understand why things happen and see if there's a genomic h- component that might be attributed to conditions. We've got observational studies where we use lots of questionnaires to ask patients about their experiences. We've got interventional studies, so that could be testing a new drug or an interventions, just testing something that might work and, and might build that into that evidence base to -

[00:10:32] You know, to put into practice. I'm really surprised at the portfolio of, of studies that is available. So they could be, um, not just maternity-based, but the obviously obstetric-based and studies, and we do a lot of gynae studies as well, so we work alongside the gynecologists.

[00:10:51] Sharon Jones: So Katie, genomics is becoming more visible in healthcare. How is that showing up in maternity care more broadly?

[00:10:58] Kate Handley: So I think what's really important to note here is that genomics has always been really important in, um, maternity care.

[00:11:04] It's just that midwives potentially didn't know that they were doing it. Um, so from the very moment that we book a pregnancy, so when, when a woman has her first appointment at, you know, 8-10 weeks, we're already using genomics to plan her, her care. So we're asking about family history. We're asking about a predisposition to, um, heart disease, for example, or heart conditions or diabetes, or things that we will then use to plan a, a pregnancy going forwards.

[00:11:30] We're looking at, yeah, family history. Uh, we're doing screening, antenatal screening, which, uh, some of the tests there are genomic based. And then after the 20-week scan, for example, if we find some sorts of congenital abnormalities, we can use genomic testing then to find out what, what is potentially wrong with the baby and what we can do about it.

[00:11:50] And then moving forward throughout that pregnancy, genomics is also really important in bereavement care. So if there's a history of multiple miscarriages, for example, or if a baby is stillborn, we can use genomic testing to find out any reasons for that and to hopefully improve, um, care for that woman going forwards as well.

[00:12:08] The big thing that's going on at the moment for genomics in maternity and midwifery is, uh, newborn screening At the moment, our newborn screening is looking for, uh, nine or 10 different conditions, um, which are very rare, but do have some treatment if they are caught early. What we're doing with whole genome sequencing, where genomic testing is looking to see whether we can find a much larger range of conditions much earlier in the baby's life to see if we can improve outcomes for those babies.

[00:12:38] And so that's a huge role of genetics. Yeah, absolutely.

[00:12:41] Sharon Jones: So Fiona, how confident do midwives generally feel about discussing genomics with families, even though Katie's just said it's not sort of nothing new and it's always sort of been there, maybe badged differently. How do you feel that midwives feel about talking about it when they are talking to families?

[00:12:59] Fiona Smith: They probably don't feel, you know, very confident speaking about it. And I definitely wouldn't have been able to speak confidently in a comm- as a community midwife, uh role. But what, what is great about the hospital is that we know that they're where to refer to. So we've got the fetal medicine midwives who are available at any point to talk us through what to say to women or to help us, and the screening team are really useful and are on hand to, again, help us navigate that and what to, you know, what to say to parents.

[00:13:36] We've got a really good patient record system as well, so we should, we, you know, the notes are very accurate. We should be able to, uh, follow through from what the parents have been told already, what their journey looks like. So although we're not 100% confident, but I think the students coming through, they're going to have res- acquire a lot more knowledge.

[00:13:59] And also our midwifery standards imply that genomics should be part of that everyday conversation that midwives are having. So although it isn't something that's familiar within our parlance. I think going forward, I think it definitely will become much more mainstay, if you like, just-

[00:14:20] something that we will be naturally talking about because you know, let's face it, genomics is here. I want to say being part of the Generation Study team, because I'm quite visible and everybody seems to know me because I've, I've transitioned from one role to the other, you know, we are visible. I'm stopped quite a lot, and midwives are asking the questions and, "Well, why?"

[00:14:43] You know, "Why is it important?" Just even to be able to talk about, you know, that we've, we're building up a database, data that's going to be used for future reference. Being able to have those conversations with, with the midwives now will really help that confidence. It's something that I didn't think I'd ever have a conversation with.

[00:15:02] I don't have very deep conversations, but I know where there are people if I do need to get those answers.

[00:15:09] Kate Handley: No, um, I think going with what, what Fiona says, I think it's really interesting that pregnancies generally now are becoming a lot more complex. Um, we're seeing a lot more high-risk pregnancies, and I think that we will find that, that women and their families, their knowledge of genomics is probably going to increase as well because we're going to see genomic testing more widely in, in healthcare, and that's going to have to then flow through into maternity and into midwifery knowledge because women are coming in with more of a baseline knowledge as well.

[00:15:40] And when we're dealing with more complex pregnancies and more high-risk pregnancies, genomics is a huge part of that. We, you know- Mm ... because we're going to be looking at things like pharmacogenetics, where we can see what kind of treatments are going to be best for these women and how that can then impact on their pregnancies.

[00:15:56] I think epigenetics is becoming more and more talked about and more interesting in maternity, you know, and it's really important that midwives are aware that we've been speaking for years about the impact of smoking, alcohol, all of the outside factors on a pregnancy. But when we actually consider that from a genetic point of view, and that these genetic changes could potentially then be feeding down through generations, it brings a whole new level to the, to that aspect of maternity that, that midwives do need to know about.

[00:16:27] So I, I think Fiona's right. I think that there is a lack of confidence when you hear the word genomics, but as soon as you explain what genomics actually means, then that confidence can be boosted. And I think that as we go forwards, there's so much work being done in the training and education systems for universities, for midwives that are already practicing.

[00:16:53] We're really trying to, to improve that confidence and competence. Within the Generation Study, that's something that we're working really, really hard on, is to make sure that we're giving all the really appropriate training to the midwives that are involved in it, and that's not just the research teams that are, uh, that are asking consent from the participants, but that's for the wider team as well to, to help the, the midwives who are taking samples, for example, understand why they need to take that particular blood sample, the importance of taking it at the time, and what that means for the family and how that can impact on, on the future.

[00:17:26] Sharon Jones: So it's kind of a whole literacy raising across the piece, isn't it? Just to sort of go back to a couple of things you said there, for those who might not know who are listening, would you mind just explaining about, um, pharmacogenomics and epigenetics? Because I just wanted to make sure that we put it across for everyone who might not know those terms.

[00:17:44] Katie Handley: So epigenetics, for example, that's looking at how environmental factors can influence gene expression. So how the impact of something on the outside can impact what's going on in the inside. And we do know now that, that environmental factors can change the way that your genes in your body work. So that can not only impact the individual, those gene changes can be passed down through to the next generations as well.

[00:18:12] And we know that this can happen across the placenta, so what a mum does in her pregnancy can then change the gene expression of the baby as well. And then we've got pharmacogenetics, which is looking at how certain drugs and certain treatments can be individualised for personal care. So looking at a person's genome, looking at the way their individual genes all work together, and then seeing how specific drugs, specific treatments can be used for that individual rather than as a population level.

[00:18:43] Sharon Jones: That's really helpful. Thank you. So Jess, did being a participant on the Generation study change how you approach conversations as a midwife? 'Cause you're kind of like in both camps, which is a quite rare and interesting position to be in.

[00:18:58] Jess Fletcher: Yeah, it's been a really amazing insight actually. Um, it definitely will, and I think this will kind of, uh, piggyback off of what, uh, Fiona was, and Katie was saying about how confident are midwives when, when they're counselling for studies.

[00:19:10] So, you know, I'm, I'm particularly passionate about, and I mean mostly all midwives are, but I'm very passionate about making sure, ensuring that the people that we're providing care for are making truly fully informed decisions. Like very informed, you know, not, not just signposting, but making sure that they understand, you know, what does this mean for you?

[00:19:31] Like what could these results mean for you and your family? Because I think the, I mean, this is a wonderful approach in some ways, but very often we'll be met with people under our care that go, "Yes, of course. Like sign me up for absolutely everything." Like the, the more we know, the better. Mm. And actually, I think it's- Then having that discussion about, well, actually, knowing things can be very complex because it then opens up a lot more questions for you and your family, and I'm not, not suggesting that ignorance is bliss, but actually, you know, really ensuring that they truly understand what this could mean for them and for their babies.

[00:20:09] And the positives of that as well, what this could, you know, how this could really optimise your, your child's health throughout their life. And so for me, you know, I've always been very passionate about discussing studies with, with the people that I'm caring for. But it was really amazing actually being on the other side and applying that to me and my family and my baby.

[00:20:32] What I talk about this, you know, every day, and actually Fiona's right, they're a very visible team, and it's, and it's amazing because, well, for Fiona, because often if she's on the birth centre and a bell goes, she's often having to get stuck in clinically in emergencies anyway. So you get a little touch of that every now and then, don't you, Fiona?

[00:20:49] But it means that they are very accessible. I felt I had a really good understanding, but suddenly it felt very personal. And I can't quite remember how it went, whether Fiona approached me or I approached her, because we see each other so frequently at work. I think that when my pregnancy became, you know, common knowledge, correct me if I'm wrong, Fiona, it was more of a like,

[00:21:11] "Oh, here we are again meeting in a corridor. Oh, yay, I can do the study," type of thing.

[00:21:16] Fiona Smith: I think you came and sat in my office to do the consent.

[00:21:19] Jess Fletcher: And that was a really interesting part for me because, of course, as a midwife, you know, you don't get to see behind the curtain, so to speak, as much as what I got to do as a participant. So I got to come and sit with Fiona in the office with the team.

[00:21:33] It was wonderful from the perspective as a pregnant person, but also as a midwife, I've learnt quite a lot, and I think that, of course, I'm not at work, you know, currently, but when I return, um, certainly the way in which I signpost and, and the way that I talk about research and this, and the Generation Study in particular, all of that will still be there.

[00:21:54] But I, I do wonder if there's going to be, there's a much deeper understanding on my side And yeah, I think undoubtedly that's probably going to, uh, I will adapt how I then, um, talk to people about the study because I've, you know, had more of an opportunity to delve into, you know, some of the great stories that have come out of it

[00:22:15] and some of the real successes that have been shared from the team. I think there was very recently a case where a genetic condition was found, but it was found so early that actually his quality of life is now going to be, you know, really optimal. And I just found the whole story really fascinating. So I suppose it's opened a bit more of a door for me on a personal side and a professional side to read more, and I found it, you know, that much more intriguing, I suppose.

[00:22:41] Sharon Jones: Yeah, I suppose it piques that curiosity and also just hearing those good news stories. Yeah, kind of showing how, you know, a family's life has been impacted in such a, sort of the early part instead of having that massive journey of finding out what possibly could be the challenges a child is facing and not knowing, having that result so much early on makes such a difference to, to a family.

[00:23:03] Jess Fletcher: Absolutely. And, and also just I think as well, because I work in safety and quality, you know, the, a huge part of my role is looking at patient experience. It's been great to be on the other, I mean, yes, this is third time around, but this was the first time that I had a baby at this current trust that I'm working at.

[00:23:18] So, you know, it was really great being on the other side of that and actually seeing how streamlined it was, how the communication between the research team and myself as the pregnant person, how efficient it was that I was receiving various things in the post and through the kind of patient portal that we use.

[00:23:36] And then how swift the results were as well.

[00:23:39] I mean, that, I'm sure that can vary between participants, but for me, you know, you're so caught up in the, in the newborn weeks that you can almost forget you were part of a study. And then I, and then I got the results through and I went, "Oh my gosh, of course. I mean, what a wonderful thing to participate in."

[00:23:54] And the fact that we're still a part of it really until he's 16 years old and beyond, if he consents. So I just think, yeah, it's been a really great experience to participate, but it will undoubtedly change how I then talk about it moving forward because I've had this personal experience.

[00:24:11] Sharon Jones: Yeah, yeah. Kind of hearing that seamless experience kind of builds on the trust that, you know, you have in the study and, and, you know, the sort of people behind it essentially, which is, is really important when you're kind of giving your genomic data essentially.

[00:24:25] So it's, it's really good to hear that. Yeah. So looking to the future, it's clear that genomics is going to play a growing role in healthcare, so I'm really interested in what that means for midwifery. How might the role evolve, and what does that mean in terms of supporting midwives who need to feel confident in this space?

[00:24:43] Kate Handley: I think that genomics is going to have a huge impact on maternity care, and I think it's going to be really great to see how we can really improve the personalised care that we give to individuals that come through the maternity system. We try really hard as midwives to treat every single woman that comes through our care as an individual, to personalise her care plan, and the more information that we've got about somebody, the more information they want to share, the better we can look after them and the better care plan we can actually put in place.

[00:25:17] So by using any genomic data that we have, we can really improve that, that care. If whole genome sequencing does become part of newborn screening in the future, we can potentially find these babies every day that we think may have a rare condition, and we can do something to improve their quality of life.

[00:25:37] Sharon Jones: Yeah. That's, that's incredible. If the study continues and, and rolls out into healthcare, that will be, um, such an impactful and, like, really game-changing Sort of effect for everyone.

[00:25:49] Kate Handley: It will be really impactful and game-changing as long as we do it properly, and I think what Jessica was saying is really, really important about genomics can have huge implications for families and for people.

[00:26:00] So it is so important that people understand what they're signing up for in any kind of genomic testing, not just in the Generation study. And because of that, the training that we give to midwives in the future, and I say we, I mean that as universities, as midwives teaching each other, as all education bodies, the information and the education that we give to midwives is so important because the only way that we can ensure that the individual signing up for any kind of genomic testing are giving informed consent is by making sure the people taking that consent are fully informed as well.

[00:26:34] As us going forwards, if all midwives can just embrace genomics, everybody will help each other build to a position where we can provide really, really good care.

[00:26:44] Jess Fletcher: From the perspective of, yes, a midwife, but also someone that's fairly freshly postnatal, you know, decision-making during a pregnancy is actually really complex.

[00:26:53] There's a lot of grey areas, and I think that decision-making, that can be really tough if it's your first experience or if you're suddenly dealing with something in a pregnancy that is more complex than you anticipated, and there's no right or wrong answer, and you're having to make decisions with perhaps not quite all of the information.

[00:27:14] I mean, Katie touched on the non-invasive prenatal testing when we are, yes, we're, we're screening in, in early pregnancy for a number of conditions, but the non-invasive prenatal testing, it's not 100%, but it, it gives us a lot more to work with. And I think everyone interprets risk differently, don't they?

[00:27:34] So if you're given a one in something chance that your baby might have a condition, it's very, can be really difficult and, and a very emotional process to make decisions around that. What's my next move going to be? So if we have the ability with genomics to actually provide a lot more information and kind of broaden the decision-making process, then -

[00:27:59] that can only, I think, be a positive thing, or give them the opportunity to then opt out of any further testing, which is equally as important.

[00:28:08] Sharon Jones: Giving you as much agency to choose without pressure and just giving you as much knowledge that you need to make the best decision that you can in that, in that situation.

[00:28:17] Jess Fletcher: Yeah, the situation that's right for, for you and for your family, which is going to look different for every family, isn't it?

[00:28:23] Kate Handley: And midwives are in such a privileged position because of the amount of time that we potentially spend with a woman and to get to know that woman. We have got the ability to actually explain things in a way that, that woman may be able to understand as well, as long as we've got the knowledge.

[00:28:40] So, you know, genomics can be really, really complex. Mm. And it can be really difficult for people to understand, even if we do have all that information. So by using the relationships that we can build with those women, I'm thinking particularly community midwives or people during the labour room that are building these really intense relationships really, really quickly.

[00:28:58] We really need to be able to use that to our advantage when it comes to actually information given to, to patients as well, and to women and their families.

[00:29:06] Jess Fletcher: We're in a really unique position in our profession because we're very highly skilled at having to explain something quickly and under pressure, and try and capture and provide all of the information possible.

[00:29:18] But also we work as part of a multidisciplinary team, so we've got access to a lot of professionals that can provide input and help with educating the patient, but also educating us. So our knowledge is always growing, especially around kind of research and genomics in, in particular. Yes, it's becoming so much more a part of midwifery.

[00:29:41] So I think, yeah, I, I feel really lucky that, you know, we're not just in a profession that, it, you know, we do this day to day and that's it. It just feels like that there's always a chance to learn and to grow as a professional, and then impart that on the people that we're caring for

[00:29:57] Sharon Jones: So coming to my final question, if you could leave our listeners with one message about midwives and research, what would it be?

[00:30:05] Fiona Smith: I'd say even though it does sound like it's a scary subject, I think we need to embrace it. The technology that's there, you know, we've got it. It's here to stay. Yeah, just don't be scared. Be curious and excited.

[00:30:22] Jess Fletcher: Yeah, and I, I do think... I, I think midwives in general, I feel like when we qualify, we also qualify with a bit of an inferiority complex, you know?

[00:30:30] That we worry about what we don't know, and actually, you're right, Fiona, we really mustn't be scared of this. We, we carry so much knowledge. Our profession is, as we've already spoken about, it's so... It's amazing how much we actually do as midwives and, and how broadly we practice, that actually it's absolutely okay if we're not confident in delivering this information, or we're not confident about, you know, where research is going.

[00:30:55] The most important thing is, is, is accessing support so that we can make sure that we are, for ourselves and for the people that we're looking after, we have a- as deep of an understanding as we possibly can.

[00:31:06] Sharon Jones: Definitely, and, and talking about sort of multi-skilling and, and being kind of pretty amazing, Jessica, I'm, I'm very impressed with our guest that has joined us on, on your shoulder

[00:31:26] Jess Fletcher: The generation study baby!

[00:31:28] Sharon Jones: A newborn baby. A Generation Study baby, that you've, uh, done this entire podcast with your baby.

[00:31:32] Jess Fletcher: He's done amazingly well, hasn't he?

[00:31:35] Sharon Jones: Yeah, he's done very well, and that really does, uh, sort of show the power of your, of your skills, not just a midwife, also as a mum, as we know.

[00:31:43] Jess Fletcher: Always a juggle.

[00:31:45] Sharon Jones: It certainly is. Katie, did you want to add any more about leaving our listeners with a, a message about midwives and, and research?

[00:31:50] Kate Handley: Yeah. I, um... Fiona used the word curious, which I think is, is brilliant. I think if we can all be curious about research, we're already onto a winner. And Jessica said about being brave. 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.

[00:32:07] We are advocates for women and for their families. We want what they want. But in order to do that, we have to embrace research, along with safeguarding and health and safety, I feel like it needs to be everyone's responsibility. You know, we all have this responsibility to improve care for, for the women that we're looking after, and research is at the heart of that.

[00:32:30] And the more research that we can do, that we can be part of and that we can implement, the better that our profession will be and the safer that our women will be.

[00:32:39] Sharon Jones: Thank you. Thank you to our guests, Katie, Fiona, and Jessica, and Jessica's newborn baby, for joining me today and sharing your insights into the evolving role of midwives.

[00:32:50] It's been fascinating to hear how midwives are not only supporting families day-to-day, but also contributing to research and helping to bring genomic medicine into routine care. If you'd like to hear more like this, please subscribe to Behind the Genes on your favourite podcast app. Thank you for listening.

[00:33:06] I've been your host, Sharon Jones. Behind the Genes is produced by Deanna Barac, Florence Cornish, Sophie McLachlan, and Patrick Wallace at Bespoken Media.

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.

In this episode, we celebrate 10 years of the Participant Panel and explore how genomic research is being guided by patient and participant voices. 

Made up of people who have consented for their genome, or the genome of their loved one, to be included in the National Genomics Research Library, the Panel plays a vital role in shaping how research is designed, how data is used, and how genomics is communicated. From influencing policy discussions to to advising the Genomics England board, their work helps ensure lived experience is embedded from the very beginning. 

Over the past decade, the Panel has driven meaningful change. From advocating for greater transparency and accessibility, to challenging how the genomics community talks about genetic conditions. But beyond the impact, this episode focuses on the people behind the work: their motivations, experiences, and the realities of representing a wider community. 

Our host, Sharon Jones is joined by: 

Kirsty Irvine – Chair of the Participant Panel and member of the NHS Genomic Medical Service People and Communities Forum 

Lisa Beaton - member of the Participant Panel, panel member for the North East and Yorkshire GMSA and research and development for Harrogate Hospital Foundation Trust 

Frances Allan – member of the Participant Panel and member of the following: 

CRUK Women+s Cancers PPIE at Cambridge

MHRA Yellowcard Biobank

Northumberland NHS health forum

Ovacome Healthforum

IMPRESS cancer diagnostic tool study participant 

You can find out more about the Participant Panel in our recent Genomics 101 episode which Lisa featured in, titled ‘What is the Participant Panel?’, and you can read about their timeline of achievements over the last 10 years.

 

“One of the things as participants that we're always really keen to get across, particularly to the scientists, is that behind every piece of data is a face and a name”

 

You can download the transcript, or read it below.

Sharon Jones: This time on Behind the Genes, we'll be celebrating the 10th anniversary of the Participant Panel, and we'll discuss how genomic research is being guided by patient and participant voices. The panel is made up of participants whose data is held in the National Genomic Research Library. They help us to put lived experience at the heart of our work.

My name is Sharon Jones, and in this podcast we cover everything from cutting-edge research to real-life stories in genomic healthcare. Joining me this time are Kirsty Irvine, chair of the Participant Panel, and Frances Allan and Lisa Beaton, who are also both members. Collectively, they wear many hats for a range of organisations, which are listed in the episode description. As you'll hear, this one is all about people power.

So back in 2016, the Participant Panel was in its infancy, with 12 founding members bringing lived experience of rare conditions. The idea was straightforward but radical: that the people whose genomes were being sequenced should have a real say in how the work was done. Over the decade since, the Panel has shaped some significant changes, from pushing for a service that let participants track their own samples, to publishing a language guide that changed how the genomics community talks about genetic conditions and disability. They've navigated the pandemic, welcomed new members and, in 2025, launched their first formal strategy.

This year they mark their 10th anniversary, and today we're hearing from some of the people who've been part of that story. So welcome Kirsty, Frances and Lisa. So what was your reason for joining the Participant Panel? And I will ask Frances that.

Frances Allan: Hi Sharon. I joined the Panel back in 2023 following a cancer diagnosis, and as part of that investigation I was fortunate enough to have a whole genome sequence performed.

And they also asked would I be interested in taking part in a panel who look after this information, and I ticked the box and then thought no more of it. And then a month or so later I heard from the then Chair, Jillian, um, and had a chat about genomics and joined the Panel, and it was a very good decision that I made.

Sharon Jones: Did you have any kind of expectations? What were your early thoughts when you kind of accepted?

Frances Allan: Not many thoughts. So I was in the middle of my chemotherapy treatment, but one of the things that really stood out: when I signed the consent form, I said, well, of course I would do that. And the clinician consenting me, said, actually, not everybody does.

And I thought, well, why would they not want to do that? So I was really interested in finding out about that. I had no idea how influential the Panel was, and that was great to discover as I became part of it. But seeing the breadth of the research and the knowledge already gained, compared to my rudimentary A-level Biology from many, many years ago, gave me incredible hope, um, and really helped me through a very difficult, difficult time.

Sharon Jones: Yeah, that's, that's amazing. It's amazing that you could kind of think in that way whilst you were actually going through the treatment itself. I mean, how did you split yourself in that way?

Frances Allan: I think it gave me a sense of, of purpose. So at the time, I'd, I'd stopped working to have my treatment and I was a, a vet previously, so I was used to thinking about medical things and problem solving, and it, it filled a, a void in my life. I had no idea I'd be able to contribute to it. I thought, well, I'd learn something from it. But, you know, the, the Panel is managed very well. Kirsty's a fantastic Chair. Everybody gets an opportunity to speak, and the attendance can be in person. And I've done most of them in person.

When I was poorly I attended an online meeting, but even that is managed so well that you get a chance to speak up. If you're not feeling well enough, then you can, you can add it to the chat or email. So it's very, very inclusive and a very supportive environment, as well.

Sharon Jones: Yeah, it sounds like a, a very safe space to be in. And Lisa, what was your reason for joining the Participant Panel?

Lisa Beaton: I think it was sort of one of those, bit of a light bulb moment for me thinking, yeah, I could do that. I'm not quite sure why I felt I was qualified to do that, but my reasoning is slightly different than Frances. So I joined the 100,000 Genomes Project back in 2015 in respect of one of my children who has an undiagnosed, thought to be neuromuscular, syndrome.

Um, so myself, my husband and our daughter recruited for genetic sampling, and over the years I've sort of taken a keen interest in all things genetic and genomic related, followed on kind of various social media platform. And I think if memory serves, I saw an announcement or an advert stating, do you want to be part of the Participant Panel, clicked on the link and thought, this is something that really resonates with me.

I've served with different hats on different kind of participant groups and speaking events, and it's something I feel really, it's an overused phrase, but I do feel really passionate and strong about it because, you know, we are the people who are the front and centre of this, because it's our genetic information.

So I applied, did a bit of a kind of resume of myself, um, then had huge imposter syndrome and thought, oh, that'll be the last I'll ever hear of that. And uh, actually had a really lovely interview with some of the then, uh, members of the Panel and must have said a few of the right things, 'cause here I am, three years down the line.

Sharon Jones: That's amazing. Has it lived up to your expectation? How has it, how has it helped you get through what sounds like a really challenging time?

Lisa Beaton: It's, it probably sounds wrong to say I, I didn't really have an expectation, but I joined it really just wanting to kind of know more and see if I could find out more details, more information, kind of more genomic discovery, and hope that I could give something back, if that doesn't sound too cringey.

I think one of the things I'm always really keen to say is that you don't need to be a geneticist. You don't need to be a scientist. You don't need to kind of have lots of scientific information. And I will confess that the very first meeting I went to, I did come away thinking, I think I probably only understood about one word in three. But three years down line as I say, I'm still here, and it's been good to challenge myself and to explore kind of things that I don't know information about, but also I found that there are areas that I can definitely bring lived experience to and, and hopefully a voice for people like myself and my family.

Sharon Jones: Yeah. That's so important. It sounds like you've become a bit of an expert by, uh, experience there. Has your vocabulary improved in the last three years? Do you know more words now?

Lisa Beaton: Yes. Uh, I've, I have to remind myself not to use an acronym. It's one of my pet peeves. You know, when you're, you're in a, a meeting and terminology or, or vernacular, that is not necessarily something that people would use day-to-day, and I think lots of you know, you don't, don't have to be genomics or genetics to, um, using acronyms for things.

It's something we all need to remind ourselves that just because you know that expression, somebody else doesn't. So it's really important to kind of keep that at a, a lay explanation so that everybody understands it. Um, I think particularly with quite heavy subject matter such as genomics and genetics, there can be a tendency otherwise for people to feel that it's not for them. And of course it is, because it's about our own personal data.

Sharon Jones: Yeah, absolutely. And, um, and coming to you, Kirsty, what were your kind of motivations for, for joining the Participant Panel?

Kirsty Irvine: Well, it's been quite a long journey for me to find myself on the Participant Panel, so I and my family, we were all consented into the a 100,000 Genomes Project back in 2015.

But from that point, I then spent nearly 10 years chairing committees at NHS Digital and then NHS England, focusing on health data access. And I remember talking about the 100,000 Genomes Project at my interviews for those roles. I then went down a different path. And in those roles I was very much wearing my solicitor's hat.

So I was thinking about governance and risk and were we complying with the precise wording of the legislation. And then when the chair role came available, I had a number of people sort of forward it to me saying, I think this would suit you. I think this would suit you. And at that stage, I was aware of the Panel because I'd met the fantastic former chair, Jillian.

Um, so I'd seen Jillian at various conferences and meetings and things, so I was well aware of what the Panel did. I was well aware of the Panel's standing. It was probably the only participant panel that I was aware of in my work with NHS Digital, NHS England. And then I realised, you know, I wanted to be closer to the people behind the data and I wanted to do something more active.

I wanted to bring a bit more of myself. Because when you're chairing a very formal committee, at NHS England, you, you can't talk about the time that you resuscitated your child at home, you know? And on the Panel, you know, my very first meeting, I, I met someone, someone whose child had, you know, been fed with an NG tube for a number of months.

You know, I met someone else who had resuscitated their child, you know, and all of a sudden I could bring more of myself to my colleagues and, and find a real community. So for me, joining the participant panel was a way of shifting the perspective, but to also bring that experience with me because I, the roles at NHS England, you know, from a governance perspective, I couldn't continue chairing those, you know, board subcommittees forever.

But I didn't want that knowledge to just sort of disappear. So for me, I'm really delighted that I've, what I hope, what I hope is a good fit. I feel it's a good fit. So that, that's been my journey to the Panel.

Sharon Jones: Yeah, that's, that's so interesting. And I guess having that space to kind of be yourself, and having understanding because of your lived experience, brings a lot of value to the role that you're doing now in a way that kind of is different when you're in your previous roles of NHS Digital, because you had to be a bit more, kind of stand back from it and, yeah. That's so interesting.

So, what has it been like being part of these groups? You know, the ones that you kind of, you're involved in a lot of things, and we'll list them in the, in the web description. And how has it kind of affected your life, essentially, because it's not the kind of average thing that people are involved in.

Frances Allan: So it's been an incredible, I think as Lisa alluded to, incredible learning curve. We've learnt so much. But the team at Genomics England are endlessly patient and very skilful at passing that information on. And we have access to the leading researchers, the clinicians that are involved in genomics. And they're happy to take any question.

And the questions, however silly, there's no silly question. They're happy to answer that. And so we learn every time we attend a meeting, we have quarterly meetings and that can be in person or online. Um, but we also have regular lunch-and-learns. So if there's somebody we want to speak to or find more about their specialist area, they'll come and have a, a chat with us.

And then we have half of it, them chatting to us and half us, us. Us asking them questions and, and challenging them. Um, so it's very, very informative and then learning from each other. And as Kirsty was saying, you know, this is a, a group of people who've, who've dealt with an awful lot of unique situations and they're happy to, to share that and pass on the information. It's a, it's a great place of learning.

Sharon Jones: Lisa, would you agree with that? How it been for you?

Lisa Beaton: Yeah, I would definitely echo everything that Frances has actually said there, and I think it's a very humbling experience, as well. Ostensibly, we are a, a collection of individuals who have all been brought together, um, purely because of, uh, our genomic interests.

And whether that's for our families, you know, as, as parents, as in my case, or in somebody like Frances' case, who's obviously a participant in her, in her own right. And although there are kind of many differences in our stories, there's also a lot of similarities. But I think what's really interesting, very precious, is that the staff at Genomics England, obviously they range from, you know, there, there's so many different kind of areas from the, the comms, the scientists, etc., but everybody is really interested. They want to know your story, who you are, why you are there. There's a real kind of inclusion focus on that.

And one of the things as participants that we're always really keen to get across, particularly to the scientists, is that, you know, behind every piece of data is a face and a name. And I think they really make that felt when they're chatting to us. You know, we go in and, and there, there's people who are there from governance sides for how the data is accessed by other parties.

There's people there who are the science technicians, etc. There's people who are dealing with the administrative side of things, but every single person that I've encountered wants to know more about you, what you are there for. And that is, is very, very precious. And as Kirsty also alluded to, a lot of us have been through some really quite traumatic experiences.

It, it's not my place to speak of others' journeys, but you know, there, there are, uh, bereaved parents and family members among us. And so we are sharing very precious raw material, emotions, experiences, and that is very powerful, as well. And I, I think the Genomics England staff never forget that. They seem to bear that at the forefront of their, their communications with us, always.

Um, and certainly Kirsty and Adam and previous chairs, uh, of the panel, that inclusivity was entirely throughout every dealing we had with them.

Sharon Jones: It's very humanising and I think that it's humbling for us who work here that that's always at the forefront of our mind, that this is why we kind of get up and go to work every day, because of that human element.

And it's not just a data point. There is a whole family, a story, a history, and that's, that's so important to us in the work that we do. Kirsty, did you want to add your point on this as well?

Kirsty Irvine: I've probably got two points I wanted to raise. One was just to draw out what Lisa was saying, is that it can be complex being a Panel member, because the story you're bringing often isn't just your own.

In my family, we've got a real, we've got a whole range of genetic differences and conditions that, you know, across the extended family. And so when I speak, I'm often drawing on experiences that aren't solely mine to share, and, you know. So I think that's something that for some on the Panel, we're sort of, we're, we're being quite careful to think about what we're saying, and if we're speaking in the public domain, we might be talking about it in more general terms.

So that's, you know, but there's not a single right way, and there's room on the Panel, everyone, for the people who can and, and as Lisa talked about, you know, the, the most acute situation is where someone's bereaved, you know. And it's, so everyone's got different, you know, different experiences. But that, that, again, coming back to the positive side of things, one of the biggest things to me about being on the Panel, what it means to me, is being part of a wider community.

I mean, one of the other things that, Sharon, I don't know if I can sort of segue onto this about, you know, the opportunities that have arisen?

Sharon Jones: Yeah, absolutely. I'd love to hear more about that.

Kirsty Irvine: So one thing that really stands out for me was the opportunity to speak directly with, um, Associate Health Minister Ahmed about, and his policy team.

So we went to the department, Adam and I went to the Department of Health, and it was about the use of GP data in consented research cohorts. So getting the GP data into the National Genomic Research Library. So even though there's consent, up until now, that GP data, that tranche of really rich data, hasn't, hasn't gone into the NGRL. So I'll use that abbreviation now that I've used it in full. And so what was really unique for me was that I'd seen it from multiple angles because I'm participant in the 100,000 Genomes Project, so I'm a cohort member.

I then worked on the consent review for NHS England. I then sat on a, the consent review assessment committee with, you know, a multiparty group. And then, because I was on the panel, I got to see things full circle. I was then invited to, to go and meet with, um, Minister Ahmed and, and advocate for the use of this GP data. And that really matters because something, you know, there's such important information sitting in that GP data and it wasn't a given, it was not a given that the government was going to the direction that allowed that data to go into the NGRL.

And so we were able to talk about how we really wanted that data to be used. And now, going forward, you know, something as simple as BMI or for example, if a, if an individual's coded for a neuro, neurodevelopmental condition like autism, sometimes that data actually only sits in the GP health record. It's in primary care only, so it's not necessarily in the hospital records or other records.

And so this is really, really valuable data for, for researchers. And so that was something that was a really special experience, just being able to see that come full circle. And I felt like it's a really tangible example of how the participant voices really helped strengthen that conversation, you know, with the DH policy team, you know, and the government ministers.

Sharon Jones: Yeah, I mean that's, that's really powerful and it, it just sort of shows how these opportunities can arise from being involved in a participant panel in a way that you wouldn't have necessarily had that power if you hadn't been involved. And you know, obviously you are wearing lots of different hats in that, in that position, Kirsty.

And um, it just sort of shows what can be done when you're, unfortunately, you know, you're in this group for a reason and it's not necessarily the, the most cheeriest reasons, but it, you still leverage that opportunity to create something positive, you know, with it.

Frances Allan: So we've given all sorts of opportunities and we seek to get involved with as many things as we can to speak and have our voice heard.

Um, and one of the things I did last year was, um, do a short presentation to open a stage at the Genomics England Research Summit, which was quite a challenge for me, but I felt very exhilarated having done it. And then a couple of people came up afterwards and just said, oh, thank you for sharing your story.

And a researcher who was slightly older than I, so very experienced, been in his field a long, long time, and he said his clinical years were long behind him, and now he researches within a lab. And actually for someone to say, you know, thank you for, for looking, thank you for finding, had a very profound experience on him.

And he knew there was a clinical benefit; his research was very clinically led. But he said he hadn't thought about the recipients of those findings. And I pointed out every time you have that chat with somebody, come to an event like that, have a network, spend a bit longer in the lab, look for something that you might not find, even if it's a negative finding, there will be somebody eventually that benefits from that.

And I've been a direct recipient of other people putting forward their whole genome sequence, and then a common change was noted in people with the type of cancer that I have, and that then qualified me for a treatment that otherwise I wouldn't have been eligible for, and I wouldn't have been, I wouldn't have been here now.

So it's a very, you know, profound thanks to all the people that are involved from everybody within Genomics England, all the researchers, all the other patients that speak up. We each have a contribution to make.

Sharon Jones: Yeah, that's amazing. That must have been quite a poignant experience when you, you met him at the, um, Summit, of just kind of the other side of the, the world that you don't often see. And they obviously don't see our side of the world, and it's kind of interesting to join those dots and kind of come full circle.

So moving on. In terms of like, collectively, there's a lot of impact that you have and there's a noticeable shift in organisations where people with lived experience are playing, you know, a much bigger role in decision making. Can you help our listeners understand how people are getting involved in governance and shaping research?

Lisa Beaton: From my perspective, it comes back to that word "embedding". I think historically, perhaps there's been an, an almost about-face. Um, it's kind of come at it very backwards, that that embedding has almost happened as an afterthought, which is sort of a bit of a misnomer way of explaining it.

When you're talking about embedding, obviously it should be the foundation. Historically, at least both from the parent, parental perspective, I've seen that with clinicians, for example, that historically I've been made perhaps to feel a bit of a thorn in someone's side, that even though we're there for an appointment about our young person, when I'm asking questions that they don't necessarily want to answer, you know, I'm almost the, the add-on rather than the reason that we're there.

And I think there has been a paradigm shift in everybody's approach to that. So thinking much more about, you know, the, the what's, the wherefores, the whys. How do we ensure that right from the get go, that patient or participant voice is heard, and it shapes the question. And one of our other Panel members frequently uses the phrase, "nothing about us without us", because that is front and centre of why, you know, genomics exists in the first place, really.

Without that data, the conversation ceased to exist. It, it's so vitally important, not just for us as an individual, not just for our family members, but for the greater good, if that doesn't sound too grandiose.

Sharon Jones: No, not at all. And, and, and Frances?

Frances Allan: I think having raised that value of patient advocacy: what we have to say. So it started off, people felt that they should have some, so they included it, but actually once they started to include it, they thought, this does contribute to our study.

And starting at the very beginning of the research project, so what is reasonable to ask participants and patients to do? Is it something that there is benefit from? And trying to see that end goal right at the beginning. And we might help shape a research study that actually goes in a beneficial direction, rather than the researchers starting alone, and then actually getting into the study, and the procedure is, is too painful to endure, there's no clinical benefit, it's not something that can be translated into clinical practice, and it gets abandoned.

So start us right at the very beginning, and our perspectives may not be what, what researchers or clinicians think. Uh, with that lived experience, however empathetic you are, the lived experience is a very unique lens and position to look from.

Sharon Jones: Yeah, it absolutely is. So, given that you are part of a small group and you know, you're representing a much wider community, essentially, like, what are the considerations that you, you have to bear in mind?

Lisa Beaton: I think we can only speak, obviously, to our own individual experience and we are very aware that, you know, diversity, ethnicity, inclusion is something that is a much bigger conversation and certainly something that we want to broaden in, in the panel itself.

And I know there's kind of lots of work and thought going into how that can widen those perhaps more diverse communities that historically... It's not that, there's, there's been a terminology that, you know, they're difficult to access, but actually the question is wrong there. The statement is wrong. It's not that they're difficult to access, it's just that we've been asking that incorrectly.

And we need to ensure that they are, uh, empowered to bring their stories forward and find ways to push forward for their inclusion. We need to ensure that everybody's voices are heard, otherwise the data set is wrong from the off. So I think that's something that we're all very minded when we speak about, and definitely want to, to diversify the pools of data that come in. That, that has huge resonance for, you know, shaping genomic and genetic policies moving forward, for sure.

Sharon Jones: Yeah, definitely. Frances, sort of broadening out that question. Does it feel like a lot of pressure and a lot of responsibility, kind of representing, you know, in this kind of small group where you are almost speaking on behalf of, you know, a lot of people?

Frances Allan: I think it mainly feels like a, a privilege, Sharon, to be in that position, to have a say. And back to my, one of my motivators for joining is why would people not choose to do this? And actually understanding why that is. And is it the, you know, the lack of knowledge of genomics? And there is a lot of, of fear about what can be discovered. But understanding the immense benefits from that so people don't miss out on those opportunities.

Our genomes contain the, the blueprint to us, but also how we would respond in certain situations, and you want everybody to be using those leverage points. You know, cancer's a really difficult disease to manage, and anything you can do to make it slightly easier, slightly more comfortable, slightly more successful, we want to do that.

So every time we speak out and we advocate for the benefits of genomics, we might gain one more person who's going to feel that a successful outcome.

Sharon Jones: Yeah, and who knows what, what that can mean for their family and, and sort of further down the line. So have you got any advice for, or encouragement, or any tips for, you know, potential participants who are thinking of getting involved in, in groups?

You know, it doesn't necessarily mean the Participant Panel, but just generally, sort of groups related to their conditions or their family's conditions.

Frances Allan: Yeah, I think the value of the one's personal experience: don't underestimate that. Everybody has an individual journey and they can comment and reflect on that.

And anybody interested in, in joining our panel, you can include in the, the copy or description, ways they're getting in touch with us and speak to us about what that, what that involves. And uh, Lisa said at the, the beginning, you come and it's a huge learning curve, but there are people to support you and guide you through that way.

And the learning is, is just fascinating. And there's a position for everybody and everybody's point of view to be heard, and you will be heard.

Sharon Jones: Thank you. Lisa?

Lisa Beaton: Yeah, I think I might steal a phrase or two actually from some, uh, well-known brands. But, um, one would be "just do it" and the other would be "feel the fear and do it anyway" because, you know, you are amongst friends, first and foremost. We all, we do tailor our experiences, and clearly we self-censor at times because that's necessary to protect the privacy and dignity of not necessarily ourselves, but as we've already alluded to in our chats, but you know, our family members, the wider people that you are aware will be hearing this.

And you don't necessarily want certain medical information about your family members out there, because it's not your information to share. But in terms of joining the panel and, you know, having a voice, giving more voices, giving more diverse data, we, we need as many people as possible to come. We need more voices.

We need to get our genetic, genomic information out there, uh, in front of the researchers and, and all involved with Genomics England, um, and other patient advocacy groups, as well, because that will only benefit the greater public.

Sharon Jones: Thank you. And Kirsty?

Kirsty Irvine: I'm just thinking about sort of general tips building on what Lisa and Frances have said. You don't need to be a seasoned public speaker. I think that's something, absolutely not. We've got some fantastic speakers in the group. Um, but then we've got people in the group who've got, who have got different skills, so don't think that you need to be ready to give a TED Talk at the first meeting, be that the Participant Panel or whatever group you might be motivated to join.

We, we just need good listeners. I've chaired meetings in the past where people, uh, wanted to contribute via the chat function, and that worked absolutely fine. They would put their incredibly insightful, erudite comments in the chat, and then I would relay them to the group, and that was how we got that person's input, because we realised that they weren't necessarily going to speak up in the forum.

So whatever your communication style, we can accommodate it at the Participant Panel and we would be delighted to hear from you.

Sharon Jones: That's great. Thank you. Um, final question. So what do you hope the next 10 years of participant involvement will look like?

Kirsty Irvine: I think if I could use a little catchphrase, which I'm sure is not mine, but I would like to see us fully integrated as partners, not participants.

I'll put that out there. I mean, Sharon, I wonder if I could sort of also open things up to how are things going to look in another 10 years, because there's been some statistics that have really struck me, uh, at presentations that, that we've heard. One of them being that in the next, you know, within 10 years, around about half the data in the National Genomics Research Library will be from, I don't know if this is the best name for it, the general population.

So that's people who aren't necessarily seeking an answer, or have a diagnosis or a condition. These are people who have donated their genomic data through being part of, you know, research projects. And, as a panel, so Genomics England's evolving and the panel will be evolving. And in 10 years time, the panel will need to be, I believe, true to the original route.

So, 100,000 Genomes Project. Uh, the people who've had their whole genome sequencing through cancer diagnoses. You know, there's a significant COVID cohort, but also people of the gen, general population. So how do we advocate for and look after everyone in that broad group of people. So I think that, that's both a challenge, that's a challenge for us, but it's also really exciting to think how we can meet that challenge.

Sharon Jones: Yeah, definitely one, definitely an opportunity and a challenge, and one that will take a lot of thinking in the next few years. Frances?

Frances Allan: Yeah, thanks Sharon. I think looking forward to that, that 10-year period is how genomics just becomes a normal part of everybody's healthcare, so we all fully understand the benefits of it.

People are willing to participate in it and then using lots of different types of data to go into the National Genomics Research Library. So at the moment, it's mainly genomics material, but there's been a lot of work done with the cancer cohort, putting in diagnostic images, pathology slides, other clinical data, written notes, and this can then be accessed under the strict criteria of the access review committee.

It can be accessed by clinicians, researchers across the world. And we want our research library to be the premium source of that information and to have collaboration with researchers, clinicians, participants, worldwide, to speed up the generation of that information and those positive outcomes. It's a, a very, very rich data source now, and it'll only get bigger as we include people from the general population.

Sharon Jones: That'd be amazing and have some quite incredible global, um, outcomes. Lisa?

Lisa Beaton: I just had a little image actually pop into my head that I, I almost look at it a little bit like we're doing one of those, I think they might be called an "impossipuzzle" where actually we don't have the picture on the box, but we have lots and lots of little pieces that are all going in together and they're making up a really creative, wonderful, fantastic, woven story, a tapestry as you were, of different information that's coming through. And how incredible, you know what, what a wonderful legacy we're building, you know, and this amazing picture that's going to evolve and change and develop over the years to come.

Sharon Jones: That's a wonderful note to end on, so we're going to wrap it up there.

Thank you for listening. A special thanks to our guests, Kirsty, Frances, and Lisa, for joining me today as we discussed how lived experience can shape health research. If you'd like to hear more like this, please subscribe to the Behind the Genes on your favourite podcast app. And if you want to know more about the Participant Panel, you can head to the Genomics England website and listen to our 10-minute explainer podcast, Genomics 101.

Behind the Genes is produced by Deanna Barac, Florence Cornish, Sophie McLachlan and Dave Howard at Bespoken Media.

In this explainer episode, we’ve asked Lisa Beaton, Panel Member and Parent Representative for SWAN UK, to tell us about the Participant Panel.

You can also find a series of short videos explaining some of the common terms you might encounter about genomics on our YouTube channel.

If you’ve got any questions, or have any other topics you’d like us to explain, let us know on podcast@genomicsengland.co.uk.

You can download the transcript or read it below.

Florence: What is the Participant Panel at Genomics England? My name is Florence Cornish and today I'm joined with Lisa Beaton, who is a Parent Representative for Syndrome Without a Name, Swan UK, and a member of the Participant Panel. And we have a special episode today because it is to celebrate the 10th anniversary, so a decade of the Participant Panel at Genomics England.

Lisa, I think it would be good to start with a quick rundown of what the Participant Panel is. If you had to describe it in a few sentences, what would you say?

Lisa: Ooh, that's tricky actually, to cram all our wealth of expertise and knowledge into that, I guess in just a few sentences. But essentially, we are a group of lay people who have all contributed by way of being on genomic studies, such as the 100,000 Genome, for our data to be held in the NGRL, the National Genomic Research Library.

We may have joined because our children or another family member have a disorder or a syndrome or a condition that requires further genetic testing. So, there are panel members who represent from different cancer communities, there's panel members who have connections with rare disease, and then there's panel members like myself who come from the undiagnosed community, where we joined to essentially try and find a diagnosis in respect of our daughter.

The majority of us don't have any kind of medical background. We're all just individuals who collectively are really interested in where genomics and genetics is going to take us in the future. But probably most importantly, we all feel a sense of responsibility to ensure that there's equity of access, to diversify, to basically ensure that the lived experience of real-life people become more than just the data point to the scientific and research community. We, we are real people.

Florence: Yeah. And could you explain a little bit more about the practical role of the panel? So what you aim to do as a group and what it involves to be a part of it?

Lisa: Certainly. So as a panel, we meet either in person or on Teams approximately four times a year. So quarterly. We also get to listen to what we call 'Lunch and Learns', which have been absolutely fascinating. It's different people from different areas of the scientific and research community who will come along and talk to us about their latest discovery or what new things have been found. What's in pipelines, what we can be looking forward to.

There's all sorts of different aspects of that. So currently a project that's been quite well known in the news is the Generation Study, the study of newborns. There have been research interviews and meetings around cancer studies. It's really exciting actually because every time there's something kind of new to learn or to see where progress is going, and that is just, I guess that's what most of us are there for, really just to see it in action.

The role of the panel really is there to hold accountability, to ensure that, you know, data is being kept in a safe and secure manner, to ask any questions that we have about that.

I think probably, we are all just members of the public, so our interests are widely there to ensure, you know, we're representing what we feel we would want to know, and therefore, hopefully in connection with what other members of who have kindly donated their genetic information and material towards studies so we, we can hold that agency for them and just to get more information, knowledge, share that out there with power.

Power to the people, as it were!

Florence: I'm interested if there's anything in particular that comes to mind that the panel has achieved that you are especially proud of, or that you are the most proud of.

Lisa: Again, I think to squash that into just kind of one or two sentences is probably impossible, because there's so many things that panel members are proud of.

One of the things that has definitely, we feel made a huge difference is the Plain Language Guide. We are absolutely adamant that, you know, everything should be as clear and easy to understand as possible. It's all very well having all the, the science and researchers who, you almost speak like a different language. For us, to get that passionately back to everybody who, who can be involved at different levels.

You know, if you've contributed your time, your information, your DNA to research, then everybody who's done that, whether they speak English as a first language or second language, or if they have any kind of say, learning disability or just different socioeconomic experience, et cetera, it's really key that across the board everybody can, can access the language and terminology that is used around genetics.

To summon up a point that has been used time and again, but is so, so crucial: nothing about us, without us.

Florence Cornish: I can confirm, I'm a very big fan of the Language Guide. I use it all the time, I share it all the time. It's amazing, and you should be very proud of it.

Lisa: Well, we definitely are. When I first joined the panel, one of the things I found really hard was I came into a room and I already had a bit of imposter syndrome.

There were lots of terms being flung around in kind of, and acronyms. It's something we all do in everyday life, and you know, the more used to them you are the more you use them. But actually it's to go back and remind ourselves what those are. You don't want to be sort of 10 steps behind because you're constantly having to go back and, and look something up.

So if you've got that guide there with you, if we ensure that everything is written as plainly and simply, whilst not dumbing anything down, just ensuring that it is accessible, that's incredibly important.

Florence: Yeah, completely. So it's been really great to hear about what the panel does and, and the vital role that they play, and you've given a really great example there.

But I thought it might also be nice to hear about what being part of the panel has meant for you and how it's impacted you just as a person, I guess, if you feel comfortable to share more about that.

Lisa: Yes, definitely. So as I said, when I joined the panel, I did have a bit of imposter syndrome.

Um, I don't have a medical background. I've gained 17+ years of medical experience because of our undiagnosed child, and I suppose I've gleaned quite a lot of information along the way, but clearly I'm not a geneticist. I'm not a doctor. I know what I know and I'm comfortable with that.

I think joining the panel for me gave me back some of who I am as a person. Over the years, I've been 'mum' a lot of the time. Medical professionals in particular face-to-face, utilise that term. And I know it's not meant in any kind of patronising way, but being part of the panel has, has made me become sort of myself as a person again, I'm more than just 'mum'. It's enabled me to meet with fellow parents and caregivers and kind of share that common bond.

Although we all come from different pathways and walks of life, be that the cancer pathway or the rare disease pathway, or the undiagnosed pathway, or in our case a combination of rare and undiagnosed, we share so many different things in common and our experience of commonalities, even if we've come about it from a different pathway, and that gives agency and strength, I think to us as individuals.

We know what we are going through, that lived experience, that real voice really brings it back and I know from chatting to members of Genomics England and being at different networking events that they really hear us when they meet us, we are so much more than just the data.

Florence: Yeah. Thank you for sharing that. And in connection to that, I just wanted to finish off by giving you the opportunity to say, is there one thing that you wish people knew about patient advocacy in general?

Lisa: Yes, come and join us would be my message. We need more people. We definitely need more diversity. We want to hear from everybody and anybody, you know, genetics, genomics affects all of us.

By 2035, I think it is, that it's predicted that more than 50% of medical such encounters will be with a genomic connection. And so to ensure that, you know, we are representing all members of communities across the board, we need more and more people particularly people of different backgrounds, would be something that I would be very keen to see the panel kind of move and diversify into.

Florence: And so, for anyone listening that does want to get involved, how would they go about doing that?

Lisa: So, I think there's probably quite a number of ways. I personally saw some information on Facebook. They're across different social media - X, Instagram, et cetera. So, there's definitely more information there.

Obviously type in their website, Genomics England, and there's different links on the pages there. And come, come and join us. We're a very friendly bunch.

Florence: Thank you so much, Lisa, for sharing more about the Participant Panel and the vital role they play and have done for the last 10 years.

Lisa: Thank you so much for inviting me to be a part of this.

Florence: If you want to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk or wherever you get your podcasts. Thank you for listening.