Behind the Genes

Réka Novotta: What is informed consent?

In this explainer episode, we’ve asked Réka Novotta, Research Ethics Operations Manager at Genomics England, to explain what informed consent is.

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

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

You can download the transcript or read it below.

Florence: What do we mean by informed consent? My name is Florence Cornish, and today I'm here with Réka, who is Research Ethics Operations Manager here at Genomics England, and she's going to be telling us much more about it.  

I think it would first be helpful Réka, if you could explain the word consent.  

Réka: The broad definition of consent is that it's the voluntary agreement given by an individual to participate in a particular activity. 

We all probably give consent to a lot of different things each day without really realizing it. So, you go on to read the news in the morning, and the website asks for your consent to process cookies. You maybe go to a routine GP appointment later, and you stick your arm out for them to measure your blood pressure. Maybe you even go to a podcast and you give consent to a host to record your voice. So, these are all based on affirmative action made by you while taking into consideration the information that's available to you.  

The technical definition of consent often includes that it's freely given, meaning that you are not coerced. That it’s specific, meaning when you stick your arm out for your doctor, you're only agreeing to that part of the examination, and perhaps most importantly, that person needs to be adequately informed for the consent to be meaningful. 

Florence: So you gave lots of really interesting examples there. I think it would be good to understand what we mean by informed consent and where this distinction comes in. How does it differ? 

Réka: By informed consent, we mean that the person consenting has been provided with all relevant and necessary information about the activity, in a format that is accessible and understandable for them.  

And that latter part of the sentence is really important, because if you go to the doctor and the doctor speaks to you in French, if you speak French, then wonderful, you have all the information that you need. But if you don't, even though the information is technically there, you not understanding it makes it impossible for your consent to be informed.  

Similarly, if you think about maybe an older person who's not familiar with technology, if they see a QR code, they might not necessarily know what to do with it, even if it would technically lead to all of the information that they would ever want to know about Genomics England. 

Florence: So you mentioned Genomics England, obviously we both work for Genomics England, this is a Genomics 101 podcast. So what do we mean by informed consent in the context of genomics? Where does it come into play? 

Réka: So if we think about informed in a traditional research study, they test a drug, the treatment either works or it doesn't work, and there's analysis of that data, and that's sort of the end of the process. 

With genomics, there's a huge amount of information that gets generated and analysed, and the field itself is rapidly evolving. So we may not have an answer today, but we might do tomorrow, which puts our participants' data in the research resource that we manage in a really unique position.  

Because of that, it's even more important perhaps for this consent to be ongoing. Consent is often incorrectly considered a tick box exercise, where you receive information, you consider the information, you make a decision, and that's sort of it. Whereas for genomics, it's important that it is an ongoing conversation and it doesn't just stop at the signing of a form.  

We also employ what's called a broad consent model. Genomics England manages the National Genomic Research Library, which rather than being a single study, is a resource for a wide range of research uses. It allows us to gain permission via the informed consent conversations for the storage and the use of data and samples for upcoming studies that we don't yet know about. 

And this eliminates the need to reconsent each participant every time a researcher starts to use their data for a new research project, and in turn, and this also feeds back to the need for ongoing conversation, a fully informed consent is very hard to achieve at the time of consenting. 

Florence: So you mentioned the National Genomic Research Library, and we actually did a previous explainer podcast episode about this. So, if listeners would like to learn more about it, you can check out our previous Genomics 101 episode: What is the National Genomic Research Library?  

Réka, I'd be interested to know, are there any challenges related to informed consent that are specific to the field of genomics? 

Réka: Yeah, so there’s many fascinating challenges. There's one that I really want to highlight, which is the family aspect. It's a lot more pronounced in genomics than it is in traditional medicine. The information that you receive, it doesn't only affect you, but it also affects your parents, your siblings, your existing, or even your future children, which is quite unique, and there's a challenge in how we articulate that without causing further anxiety. 

Florence: So speaking of the challenges there, the family aspect and the fact that genomics as a field is rapidly evolving, I think this highlights how important it is that we embed informed consent into our practices.  

Could you tell me a bit about how we're doing this at Genomics England? 

Réka: We follow best practice in informed consent called information layering, where we provide materials for our research in different formats. And this can ensure that participants can get the depth of understanding that they need, without feeling overwhelmed by a massive amount of information from the outset. 

So this includes longer and shorter information sheets, providing materials and training for healthcare professionals so that they can have conversations with potential participants. We also have lots of different copy on our website. We have videos, and this podcast as well. 

And it's all part of what we call patient and public involvement and engagement or PPIE, which means that we co-produce our materials involving members of the public and patients in the design of our materials, making sure that they present accessible and understandable information. 

It is really important for us not to, as you say, mark our own homework. What makes sense to one person might not make sense to another, and it's important to get lots of different perspectives. And I just wanted to shout out the Participant Panel who's a committee of wonderful people who help us, and also keep us accountable in everything that we do. 

Florence: What would happen if say, somebody gave informed consent for their data to be stored in the National Genomic Research Library, but then they change their mind and they want to take it back? What would happen then? 

Réka: So we offer 2 types of withdraw from a resource. There is an option to withdraw partially or to unsubscribe, which means that you can leave your de-identified donated data for researchers to analyse, but not receive any updates or contact from us going forward.  

You can also decide to withdraw your participation fully, and that's where we make your data unavailable for future research. One of the key pillars in informed consent and the consent model that Genomics England employs, is that research participants can withdraw their consent to participate at any time without giving us a reason. 

So, it doesn't matter if you submit your request on a website or on a paper form or if you call us, we will respect your decision with no questions asked. 

Florence: Thank you so much for coming on and for walking us through the meaning of informed consent, and why it's so important in the context of healthcare and research. 

If you want to learn more about terms we use in genomics, check out our other podcasts at www.genomicsengland.co.uk, or, wherever you get your podcasts. Thank you for listening.  

Adam Clatworthy, Emma Baple, Jo Wright, Lisa Beaton and Jamie Ellingford: What Does the Diagnostic Odyssey Really Mean for Families?

In this special episode, recorded live at the 2025 Genomics England Research Summit, host Adam Clatworthy is joined by parents, clinicians and researchers to explore the long, uncertain and often emotional journey to a genetic diagnosis. Together, they go behind the science to share what it means to live with uncertainty, how results like variants of uncertain significance (VUS) are experienced by families, and why communication and support matter just as much as genomic testing and research.

The panel discuss the challenges families face when a diagnosis remains out of reach, the role of research in refining and revisiting results over time, and how collaboration between researchers, clinicians and participants could help shorten diagnostic journeys in the future.

Joining Adam Clatworthy, Vice-Chair for the Participant Panel, on this episode are:

• Emma Baple – Clinical geneticist and Medical Director, South West Genomic Laboratory Hub 

• Jamie Ellingford – Lead genomic data scientist, Genomics England 

• Jo Wright – Member of the Participant Panel and Parent Representative for SWAN UK 

• Lisa Beaton - Member of the Participant Panel and Parent Representative for SWAN UK 

Linked below are the episodes mentioned in the episode: 

• What is the diagnostic odyssey? 

• What is a Variant of Uncertain Significance? 

Visit the Genomics England Research Summit website, to get your ticket to this years event.

You can download the transcript, or read it below.

Sharon: Hello, and welcome to Behind the Genes.

My name is Sharon Jones and today we’re bringing you a special episode recorded live from our Research Summit held in June this year. The episode features a panel conversation hosted by Adam Clatworthy, Vice-Chair of the Participant Panel.

Our guests explore navigating the diagnostic odyssey, the often-complex journey to reaching a genetic diagnosis. If you’d like to know more about what the diagnostic odyssey is, check our bitesize explainer episode, ‘What is the Diagnostic Odyssey?’ linked in the episode description.

In today’s episode you may hear our guests refer to ‘VUS’ which stands for a variant of uncertain significance. This is when a genetic variant is identified, but its precise impact is not yet known. You can learn more about these in another one of our explainer episodes, “What is a Variant of Uncertain Significance?”

And now over to Adam.

--

Adam: Welcome, everyone, thanks for joining this session.

I’m always really humbled by the lived experiences and the journeys behind the stories that we talk about at these conferences, so I’m really delighted to be hosting this panel session. It’s taking us behind the science, it’s really focusing on the people behind the data and the lived experiences of all the individuals and the families who are really navigating this system, trying to find answers and really aiming to get a diagnosis – that has to be the end goal. We know it’s not the silver bullet, but it has to be the goal so that everyone can get that diagnosis and get that clarity and what this means for their medical care moving forwards.   

So, today we’re really going to aim to demystify what this diagnostic odyssey is, challenging the way researchers and clinicians often discuss long diagnostic journeys, and we’ll really talk about the vital importance of research in improving diagnoses, discussing the challenges that limit the impact of emerging research for families on this odyssey and the opportunities for progress. So, we’ve got an amazing panel here. Rather than me trying to introduce you, I think it’s great if you could just introduce yourselves, and Lisa, I’ll start with you.

Lisa: Hi, I’m Lisa Beaton and I am the parent of a child with an unknown, thought to be neuromuscular, disease. I joined the patient Participant Panel 2 years ago now and I’m also a Parent Representative for SWAN UK, which stands of Syndromes Without A Name.

I have 4 children who have all come with unique and wonderful bits and pieces, but it’s our daughter who’s the most complicated.

Adam:  Thank you. Over to you, Jo.

Jo:  Hi, I’m Jo Wright, I am the parent of a child with an undiagnosed genetic condition.  So I’ve got an 11-year-old daughter. 100,000 Genomes gave us a VUS, which we’re still trying to find the research for and sort of what I’ll talk about in a bit.  And I’ve also got a younger daughter.

I joined the Participant Panel just back in December. I’m also a Parent Rep for SWAN UK, so Lisa and I have known each other for quite a while through that.

Adam:  Thank you, Jo.  And, Jamie, you’re going to be covering both the research and the clinician side and you kind of wear 2 hats, so, yeah, over to you.

Jamie:  Hi, everyone, so I’m Jamie Ellingford and, as Adam alluded to, I’m fortunate and I get to wear 2 hats. So, one of those hats is that I’m Lead Genomic Data Scientist for Rare Disease at Genomics England and so work as part of a really talented team of scientists and engineers to help develop our bioinformatic pipelines, so computational processes.

I work as part of a team of scientists and software engineers to develop the computation pipelines that we apply at Genomics England as part of the National Health Service, so the Genomic Medicine Service that families get referred to and recruited to, and we try to develop and improve those.

So that’s one of my hats. And the second of those is I am a researcher, I’m an academic at the University of Manchester, and there I work really closely with some of the clinical teams in the North West to try and understand a little bit more about the functional impact of genomic variants on kind of how things happen in a cell. So, we can explore a little bit more about that but essentially, it’s to provide a little bit more colour as to the impact that that genomic variant is having.

Adam: Great, thank you, Jamie. Over to you, Emma.

Emma: My name’s Emma Baple, I’m an academic clinical geneticist in Exeter but I’m also the Medical Director of the South West genomic laboratory hub, so that’s the Exeter and Bristol Genomics Laboratory. And I wear several other hats, including helping NHS England as the National Specialty Advisor for Genomics.

Adam: Thank you all for being here. I think it’s really important before we get into the questions just to ground ourselves in like those lived experiences that yourself and Jo and going through.

So, Lisa, I’m going to start with you. The term ‘diagnostic odyssey’ gets bandied around a lot, we hear about it so many times, but how does that reflect your experience that you’ve been through and what would you like researchers and clinicians to understand about this journey that you’re on, essentially?

Lisa: So I think ours is less an odyssey and more of a roller-coaster, and I say that because we sort of first started on a genetic journey, as it were, when my daughter was 9 weeks of age and she’s now 16½ – the half’s very important – and we still have no answers.

And we’ve sort of come a bit backwards to this because when she was 6 months old Great Ormond Street Hospital felt very strongly that they knew exactly what was wrong with her and it was just a case of kind of confirmation by genetics. And then they sent off for a lot of different myasthenia panel genes, all of which came back negative, and so having been told, “Yes, it’s definitely a myasthenia, we just need to know which one it is,” at 4 years of age that was removed and it was all of a sudden like, “Yeah, thanks, sorry.”

And that was really hard actually because we felt we’d had somewhere to hang our hat and a cohort of people with very similar issues with their children, and then all of a sudden we were told, “No, no, that’s not where you belong” and that was a really isolating experience.

I can remember sort of saying to the neuromuscular team, “Well is it still neuromuscular in that case?” and there was a lot of shrugging of shoulders, and it just…  We felt like not only had we only just got on board the life raft, then we’d been chucked out, and we didn’t even have a floaty. And in many ways I think I have made peace with the fact that we don’t have a genetic diagnosis for our daughter but it doesn’t get easier in that she has her own questions and my older children – one getting married in August who’s already sort of said to me, you know, “Does this have implications for when we have children?”  And those are all questions I can’t answer so that’s really hard.

Adam:  Thank you, Lisa. Yourself, Jo, how would you describe the odyssey that you’re currently experiencing?

Jo: So my daughter was about one when I started really noticing that she was having regressions. They were kind of there beforehand but, I really noticed them when she was one, and that’s when I went to the GP and then got referred to the paediatrician.

So initially we had genetic tests for things like Rett syndrome and Angelman syndrome, which they were all negative, and then we got referred on to the tertiary hospital and then went into 100,000 Genomes. So we enrolled in 100,000 Genomes at the beginning of 2017, and we got our results in April of 2020, so obviously that was quite a fraught time.

Getting our results was probably not as you would want to do it because it was kind of over the phone and then a random letter. So, what I was told in that letter was that a variant of uncertain significance had been identified and they wanted to do further research to see if it might be more significant. So we were to be enrolled into another research project called Splicing and Disease, which wasn’t active at the time because everything had been put on hold for COVID, but eventually we went into that. So, I didn’t know what the gene was at that point, when I eventually got the form for going to get her bloods done…  So that went off and then that came back and the geneticist said, “That gives us some indication that it is significant.”

So, since that point it’s been trying to find more information and research to be able to make it a diagnosis. There have been 2 sort of key things that have happened towards that but we’re still not there. So one of the things is that a research paper came out earlier this year so that’s kind of a little bit more evidence, it’s not going to give us a diagnosis but it kind of, you know, sits there. And the other thing is that my geneticist said, “Actually, yeah, it looks like it’s an important change.”  That’s as far as we’ve got. So we’ve still got work to do to make it a diagnosis or not.  Obviously if it is a diagnosis, it is still a one-of-a-kind diagnosis, so it doesn’t give me a group to join or that kind of thing.

But now I’ve got that research paper that I’ve read and read, and asked ChatGPT to verify that I’ve understood it right in some places, you know, with the faith that we put into ChatGPT (laughs), I’ve got a better understanding and I’ve got something now that I can look back on, the things that happened when my daughter was one, 2, 3, 4 and her development was all over the place and people thought that I was slightly crazy for the things I was saying, that “Actually, no, I can see what’s happening.”

So, it’s like the picture’s starting to come into focus but there’s work to do. I haven’t got a timeframe on that, I don’t know when it’s going to come together. And I always say that I’m a prolific stalker of the postman; ever since our first genetic tests you’re just constantly waiting for the letters to drop through the door. So a diagnostic odyssey to me is just waiting for random events.

Adam: I think what you’ve both kind of really clearly elaborated on is how you’re the ones that are having to navigate this journey, you’re the ones that are trying to piece this puzzle together, and the amount of time you’re investing, all whilst navigating and looking after your child and trying to cope with the daily lived experience as well.

And something you’ve both touched on that I’d love to draw out more is about how exactly was the information shared with you about the lack of diagnosis or the VUS or what’s going on, because in our case you get this bit of paper through the post that has all these numbers and it’s written in clinical speak and we had no conversation with the geneticist or the doctors.

You see this bit of paper and you’re reading it, scared for what the future will hold for your child, but I’d love to know like how were you communicated whilst all this is going on, how did you actually find out the next steps or any kind of future guidance.

Lisa: So I think in our case we kept sort of going onto neuromuscular appointments, and I think for probably the first 5 years of my daughter’s life I kind of had this very naïve thought that every time we turned up to an appointment it would be ‘the one’ and then…   I think it would’ve been really helpful actually in those initial stages if they had said to us, “Actually, we don’t know when this is going to happen, if it’s even going to happen, you need to kind of prepare yourself for that.”

It sounds fairly obvious to say but you don’t know what you don’t know. And in some ways we were getting genetic test results back for some really quite horrible things and they would tell us, “Oh it’s good news, this mitochondrial disorder hasn’t come up,” and so part of you is like, “Yay!” but then another part of you is thinking, “Well if it’s not that what is it?” And we’ve very much kind of danced around and still don’t really have an answer to whether it’s life-limiting.

We know it’s potentially life-threatening and we have certain protocols, but even that is tricky. We live in North Yorkshire, and our local hospital are amazing. Every time we go in, if it’s anything gastro-related, they say to me, “What’s the protocol from Great Ormond Street?” and I say, “We don’t have one” (laughs) and that always causes some fun. We try to stay out of hospitals as much as we absolutely can and do what we can at home but, equally, there’s a point where, you know, we have to be guided by where we’re going with her, with the path, and lots of phone calls backwards and forwards, and then is it going to be a transfer down to Great Ormond Street to manage it.

And actually the way I found out that nothing had been found from 100,000 Genomes was in a passing conversation when we had been transferred down to Great Ormond Street and we’d been an inpatient for about 6 weeks and the geneticist said to me, “So obviously with you not having a diagnosis from the 100,000 Genomes…” and I said, “Sorry?  Sorry, what was that?  You’ve had the information back?”  And she said, “Well, yes, did nobody write to you?” and I said, “No, and clearly by my shock and surprise.”

And she was a bit taken aback by that, but it happened yet again 2 years later (laughs) when she said, “Well you know everything’s been reanalysed” and I said, “No.”  (Laughs)  And, so that’s very much, it still feels an awful lot like I’m doing the heavy lifting because we’re under lots of different teams and even when they’re working at the same hospital they don’t talk to each other. And I do understand that they’re specialists within their own right, but nobody is really looking at my daughter holistically, and there are things that kind of interrelate across.   

And at one of the talks I attended this morning they were talking about the importance of quality of life, and I think that is something that has to be so much more focused on because it’s hard enough living without a diagnosis, but when you’re living with a bunch of symptoms that, I think the best way I can describe it is at the moment we’ve got the spokes of the umbrella but we don’t have the wrapper, and we don’t know where we’re going with it. We can’t answer her questions, we can’t even necessarily know that we’re using the most effective treatments and therapies for her, and she’s frustrated by that now, being 16, in her own right, as well as we are.

And I’m panicking about the navigation towards Adult Services as well because at the minute at least we have a clinical lead in our amazing local paediatrician but of course once we hit and move into that we won’t even have him and that’s a really scary place to be, I think.

Adam: Jo, is there anything you wanted to add on that in terms of how you’ve been communicated to whilst all this is going on?

Jo: Yeah, so I think part of what makes it difficult is if you’re across different hospitals because they’re not necessarily going to see the same information. So obviously it was a bit of a different time when I got our results, but I got our results on a virtual appointment with a neurologist in one hospital, in the tertiary hospital, and because he could see the screen because it was the same hospital as genetics, and he said, “Oh you’ve got this” and then the letter came through later.

When I had my next appointment with the neurologist in our primary hospital, or secondary care, whatever it’s called, in that hospital, he hadn’t seen that, so I’m telling him the results, which isn’t ideal, but it happens quite a lot.

What I think is quite significant to me is the reaction to that VUS.  I have to give it, the doctors that look after my daughter are brilliant, and I’m not criticising them in any way but their reaction to a VUS is “I’m so grateful for the persistence to get to a diagnosis.”

Neurologists are a bit more like “Oh it’s a VUS so it might be significant, it might be nothing.” Actually, as a patient, as in a parent, you actually want to know is it significant or not, “Do I look at it or not?” And, I mean, like I said, there were no research papers to look at before anyway until a few months ago so I didn’t have anything to look at, but I didn’t want to look at it either because you don’t want to send yourself off down a path. But I think that collective sort of idea that once someone gets a VUS we need a pathway for it, “What do we do with it, what expectation do we set the patients up with and what is the pathway for actually researching further?” because this is where we really need the research.

Adam:  Thank you, Jo. So, Emma, over to you in terms of how best do you think clinicians can actually support patients at navigating this odyssey and what’s the difference between an initial diagnosis and a final diagnosis and how do you then communicate that effectively to the patients and their family?  

Emma: So I think a key thing for me, and it’s come up just now again, is that you need to remember as a doctor that the things you say at critical times in a patient’s or parent’s journeys they will remember – they’ll remember it word for word even though you won’t – and thinking about how to do that in the most sensitive, empathetic, calm, not rushed way is absolutely key.  

And there are some difficulties with that when you’re in a very high-pressure environment but it is absolutely crucial, that when you are communicating information about test results, when you’re talking about doing the test in the first place, you’re consenting the family, you’re explaining what you’re trying to do and those conditions, you balance how much information you give people.   

So, you were talking earlier about “So you haven’t got this diagnosis, you haven’t got that diagnosis,” I often think it’s…  We’re often testing for numerous different conditions at the same time, I couldn’t even list them all to the parents of the children or the patient that I’m testing. It’s key to try and provide enough information without overwhelming people with so much information and information on specific conditions you are just thinking about as a potential.  Sometimes very low down your list actually but you can test for them.   

Because people go home and they use the internet and they look things up and they get very, very worried about things. So, for me it’s trying to provide bite-sized amounts of information, give it the time it deserves, and support people through that journey, tell them honestly what you think the chance of finding a diagnosis is. If you think it’s unlikely or you think you know, sharing that information with family is helpful.  

Around uncertainty, I find that a particular challenge. So, I think we’ve moved from a time when we used to, in this country, declare every variant we identified with an uncertain significance. Now, if we remember that we’ve all got 5 million variants in our genome, we’ve all got hundreds and hundreds… thousands and thousands, in fact, of variants of uncertain significance in our genetic code. And actually, unless you think a variant of uncertain significance genuinely does have a probability of being the cause of a child’s or a patient’s condition, sharing that information can be quite harmful to people.   

We did a really interesting survey once when we were writing the guidelines for reporting variants of uncertain significance a few years ago. We asked the laboratories about their view of variants of uncertain significance and we asked the clinicians, and the scientists said, “We report variants of uncertain significance because the clinicians want them” and the clinicians said, “If the labs put the variant of uncertain significance on the report it must be important.” And of course, if you’re a parent, if the doctor’s told you the variant is a variant of uncertain significance of course you think it’s important.   

So, we should only be sharing that information, in my opinion, if it genuinely does have a high likelihood of being important and there are things that we can do. And taking people through that journey with you, with the degree of likelihood, the additional tests you need to do and explaining to them whether or not you think you will ever clarify that, is really, really key because it’s very often that they become the diagnosis for the family.  Did I cover everything you think’s important, both of you? 

Lisa: I think the one thing I would say is that when you are patient- or parent-facing, the first time that you deliver that news to the parent… you may have delivered that piece of news multiple times and none of us sit there expecting you to kind of be overcome with emotion or anything like that but, in the same way that perhaps you would’ve had some nerves when, particularly if it was a diagnosis of something that was unpleasant, you know, to hold onto that kind of humanity and humility. Because for those patients and parents hearing that news, that is the only time they’re ever hearing that, and the impact of that, and also, they’re going on about with their day, you don’t know what else they’re doing, what they’re juggling.   

We’re not asking you all to be responsible for kind of, you know, parcelling us up and whatnot but the way information is imparted to us is literally that thing we are all hanging our hats on, and when we’re in this kind of uncertainty, from my personal experience I’m uncomfortable, I like to be able to plan, I’m a planner, I’m a researcher, I like to sort of look it up to the nth degree and that, and sitting in a place without any of that is, it’s quite a difficult place to be. And it’s not necessarily good news for those parents when a test comes back negative, because if it’s not that then what is it, and that also leaves you feeling floundering and very isolated at times. 

Adam: Yeah, and you touched upon the danger of like giving too much information or pushing families down a particular route, and then you have to pull them out of it when it’s not that.  

You talked about the experience you had, you felt like you’d found your home and then it’s like, “Well, no, no, sorry, actually we don’t think it’s that.” And you’ve invested all of your time and your emotion into being part of that group and then you’re kind of taken away again. So it’s to the point where you have to be really sure before you then communicate to the families, and obviously in the meantime the families are like, “We just need to know something, we need to know,” and it’s that real fine line, isn’t it?   

But, Jamie, over to you. Just thinking about the evolving nature of genomic diagnosis, what role does research play in refining or confirming a diagnosis over time? 

Jamie: So it’s really, really difficult actually to be able to kind of pinpoint one or 2 things that we could do as a community of researchers to help that journey, but perhaps I could reflect on a couple of things that I’ve seen happen over time which we think will improve things. And one of that’s going back to the discussion that we’ve just had about how we classify genetic variants. And so, behind that kind of variant of uncertain significance there is a huge amount of effort and emotion from a scientist’s side as well because I think many of the scientists, if not all, realise what impact that’s going to have on the families.  

And what we’ve tried to do as a community is to make sure that we are reproducible, and if you were to have your data analysed in the North West of England versus the South West that actually you’d come out with the same answer. And in order to do that we need guidance, we need recommendations, we need things that assist the scientists to actually classify those variants. 

And so, what we have at the moment is a 5 point scale which ranges from benign to likely benign, variant of uncertain significance, unlikely pathogenic variant and pathogenic variant. It’s objective as to how we classify a variant into one of those groups and so it’s not just a gut feeling from a scientist, it’s kind of recordable measurable evidence that they can provide to assist that classification.  

So in many instances what that does is provide some uncertainty, as we’ve just heard, because it falls into that zone of variant of uncertain significance but what that also does is provide a framework in which we can generate more evidence to be able to classify it in one direction or another to become likely pathogenic or to become likely benign. And as a research community we’re equipped with that understanding –– and not always with the tools but that’s a developing area – to be able to do more about it.  

What that doesn’t mean is that if we generate that evidence that it can translate back into the clinic, and actually that’s perhaps an area that we should discuss more. But kind of just generating that evidence isn’t always enough and being able to have those routes to be able to translate back that into the hands of the clinicians, the clinical scientists, etc, is another challenge.

Adam:  And how do you think we can drive progress in research to deliver these answers faster, to really try and shorten those diagnostic journeys, like what are the recommendations that you would say there?

Jamie:  So being able to use the Genomics England data that’s in the National Genomic Reference Library, as well as kind of other resources, has really transformed what we can do as researchers because it enables teams across the UK, across the world to work with data that otherwise they wouldn’t be able to work with.  

Behind that there’s an infrastructure where if researchers find something which they think is of interest that can be reported back, it can be curated and analysed by teams at Genomics England and, where appropriate, kind of transferred to the clinical teams that have referred that family. And so having that pathway is great but there’s still more that we can do about this. You know, it’s reliant on things going through a very kind of fixed system and making sure that clinicians don’t lose contact with families – you know, people move, they move locations, etc. And so, I think a lot of it is logistical and making sure that the right information can get to the right people, but it all falls under this kind of umbrella of being able to translate those research findings, where appropriate, into clinical reporting.  

Adam:  Thank you. And, Emma, is there anything you would add in terms of like any key challenges that you think need to be overcome just to try and shorten the journeys as much as possible and find the answers to get a diagnosis? 

Emma: I think trying to bridge that gap between some of the new technologies and new approaches that we’ve got that we can access in a research context and bringing those into diagnostics is a key area to try to reduce that diagnostic odyssey, so I really want to see the NHS continuing to support those sorts of initiatives.  

We’re very lucky, as Jamie said, the National Genomic Research Library has been fundamental for being able to reduce the diagnostic odyssey for large numbers of patients, not just in this country but around the world, and so trying to kind of look at how we might add additional data into the NGRL, use other research opportunities that we have in a more synergistic way with diagnostics I think is probably key to being able to do that.   

We are very lucky in this country with the infrastructure that we’ve got and the fact that everything is so joined up. We’re able to provide different opportunities in genomics for patients with rare conditions that aren’t so available elsewhere in the world. 

Adam: Great, thank you. I think we’re it for time, so thank you very much to the panel. And I’d just say that if you do have any further questions for ourselves as participants then we’re only too happy to pick those up. Thank you for lasting with us ‘til the end of the day and hope to see you soon. 

--

Sharon: A huge thank you to our panel, Adam Clatworthy, Emma Baple, Jo Wright, Lisa Beaton and Jamie Ellingford, for sharing their insights and experiences.

Each year at the summit, the Behind the Genes stage hosts podcast style conversations, bringing together researchers, clinicians and participants to discuss key topics in genomics.  If you’re interested in attending a future Genomics England Research Summit, keep an eye out on our socials.

If you’d like to hear more conversations like this, please like and subscribe to Behind the Genes on your favourite podcast app. Thank you for listening.   

I’ve been your host, Sharon Jones. The podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac.

Sharon Jones and Dr Rich Scott: Reflecting on 2025 - Collaborating for the future of genomic healthcare

In this special end-of-year episode of Behind the Genes, host Sharon Jones is joined by Dr Rich Scott, Chief Executive Officer of Genomics England, to reflect on the past year at Genomics England, and to look ahead to what the future holds. 

Together, they revisit standout conversations from across the year, exploring how genomics is increasingly embedded in national health strategy, from the NHS 10-Year Health Plan to the government’s ambitions for the UK life sciences sector. Rich reflects on the real-world impact of research, including thousands of diagnoses returned to the NHS, progress in cancer and rare condition research, and the growing momentum of the Generation Study, which is exploring whether whole genome sequencing could be offered routinely at birth. 

This episode offers a thoughtful reflection on how partnership, innovation, and public trust are shaping the future of genomic healthcare in the UK and why the years ahead promise to be even more exciting. 

Below are the links to the podcasts mentioned in this episode, in order of appearance: 

• How are families and hospitals bringing the Generation Study to life?
• How can cross-sector collaborations drive responsible use of AI for genomic innovation?
• How can we enable ethical and inclusive research to thrive?
• How can parental insights transform care for rare genetic conditions?
• How can we unlock the potential of large-scale health datasets?
• Can patient collaboration shape the future of therapies for rare conditions?
• https://www.genomicsengland.co.uk/podcasts/what-can-we-learn-from-the-generation-study

“There is this view set out there where as many as half of all health interactions by 2035 could be informed by genomics or other similar advanced analytics, and we think that is a really ambitious challenge, but also a really exciting one.” 

You can download the transcript, or read it below.

Sharon: Hello, and welcome to Behind the Genes.  

Rich: This is about improving health outcomes, but it’s also part of a broader benefit to the country because the UK is recognised already as a great place from a genomics perspective. We think playing our role in that won’t just bring the health benefits, it also will secure the country’s position as the best place in the world to discover, prove, and where proven roll out benefit from genomic innovations and we think it’s so exciting to be part of that team effort. 

Sharon: I’m Sharon Jones, and today I’ll be joined by Rich Scott, Chief Executive Officer at Genomics England for this end of year special. We’ll be reflecting on some of the conversations from this year’s episodes, and Rich will be sharing his insights and thoughts for the year ahead. If you enjoyed this episode, we’d love your support, so please subscribe, rate, and share on your favourite podcast app. So, let’s get started. 

Thanks for joining me today, Rich. How are you? 

Rich: Great, it’s really good to be here.  

Sharon: It’s been a really exciting year for Genomics England. Can you tell us a bit about what’s going on? 

Rich: Yeah, it’s been a really busy year, and we’ll dive into a few bits of the components we’ve been working on really hard. One really big theme for us is it’s been really fantastic to see genomics at the heart of the government’s thinking. As we’ll hear later, genomics is at the centre of the new NHS 10-year health plan, and the government’s life sciences sector plan is really ambitious in terms of thinking about how genomics could play a role in routine everyday support of healthcare for many people across the population in the future and it shows a real continued commitment to support the building of the right infrastructure, generating the right evidence to inform that, and to do that in dialogue with the public and patients, and it’s great to see us as a key part of that. 

It’s also been a really great year as we’ve been getting on with the various programmes that we’ve got, so our continued support of the NHS and our work with researchers accessing the National Genomic Research Library. It’s so wonderful to see the continued stream of diagnoses and actionable findings going back to the NHS. It’s been a really exciting year in terms of research, publications. In cancer, some really exciting publications on, for example, breast cancer and clinical trials. Really good partnership work with some industry partners, really supporting their work. For me, one of the figures we are always really pleased to see go up with time is the number of diagnoses that we can return thanks to research that’s ongoing in the research library, so now we’ve just passed 5,000 diagnostic discoveries having gone back to the NHS, it really helps explain for me how working both with clinical care and with research and linking them really comes to life and why it’s so vital.  

And then, with our programmes, it’s been great to see the Generation Study making good progress. So, working with people across the country, more than 25,000 families now recruited to the study, and we’re beginning to hear about their experiences, including some of the families who’ve received findings from the programme. It’s really nice to see and hear from Freddie’s family, who talked to the press a bit about the finding that they received. Freddie was at increased risk of a rare eye cancer, and really pleasingly, it was possible to detect that early through the screening that was put in place. Again, it really brings to life why we’re doing this, to make a difference and improve health outcomes. 

Sharon: That’s an incredible 12 months. Diving into that Generation Study piece and for listeners who don’t know what that is, it’s a research study in partnership with the NHS that aims to sequence the genomes of 100,000 newborn babies. On an episode from earlier in the year, we had mum, Rachel Peck, join the conversation, whose baby Amber is enrolled on a study. Let’s year from Rachel now. 

Rachel: From the parents’ point of view, I guess that’s the hardest thing to consent for in terms of you having to make a decision on behalf of your unborn child. But I think why we thought that was worthwhile was that could potentially benefit Amber personally herself or if not, there’s the potential it could benefit other children. 

Sharon: Consent has been such a big area of focus for us, Rich, and Rachel touches on that complexity, you know, making a decision on behalf of her unborn child. Can you talk a bit about our approach to consent in the Generation Study and what’s evolving in that model? 

Rich: Yeah. It’s been for the whole study, really, starting out asking a really big question here, what we’re aiming to do is generate evidence on whether and if so, how whole genome sequencing should be offered routinely at birth, and that’s responding to a really ill need that we know that each year thousands of babies are born in the UK with treatable rare conditions. We will also need to see if whole genome sequencing can make a difference for those families, but we realise to do that, as with all screening, that involves testing more people than are going to benefit from it directly themselves. So, you have to approach it really sensitively. There’s lots of complicated questions, lots of nuance in the study overall. One of them is thinking really carefully about that consent process so that families can understand the choices, they can understand the benefits and risks. This is still a research study. We’re looking to understand whether we should offer this routinely. It’s not part of routine care at this point. The evidence will help decision-makers, policymakers in the future decide that. 

At the beginning of the programme, we spent a lot of time talking to families, talking to health professionals who understand the sorts of decisions that people are making at that time of life, but also are experts in helping think about how you balance that communication. That involved, as I say, a lot of conversations. We learnt a lot, lots of it practical stuff, about the stage of pregnancy that people are at when we first talk to them about the study, so that people aren’t hurried and make this decision. What we’ve learnt in the study, right from the outset, is talking to people from midway through the pregnancy so that they really have time to engage in it and think about their choice. So, it’s an important part of getting the study design right so that we run the study right. It’s also a really crucial element of the evidence that will generate from the study so that we can understand if this is something that’s adopted, how should we communicate about it to families. What would they want to know? What’s the right level of information and how do we make that accessible in a way that is meaningful to people from different backgrounds, with different levels of interest, different accessibility in terms of digital and reading and so on. There’s a lot that we’ve learnt along the way and there’s a lot that we’re still learning. And as I say, important things that we’ll present as evidence later on. 

Sharon: Thank you. It’s fascinating there are so many moving parts and a lot to consider when you’re building the design of a programme like this or study like this. 

Earlier in the year you had a great conversation with Karim Beguir about the developments of AI in genomics. Let’s revisit that moment. 

Karim: We live in an extraordinary time. I want to emphasise the potential of scientific discovery in the next two or three years. AI is going to move, let’s say, digital style technologies like coding and math towards more like science and biology. In particular, genomics is going to be a fascinating area in terms of potential. 

Sharon: So, Karim talks about AI moving from maths and coding into biology. Why is genomics such a natural area for AI? 

Rich: It’s really fascinating. I think it links a lot to how we think about genomics and how you get the most value in terms of health benefit and sort of the progress that we can see could come through genomics more generally. So, your genome, which is your DNA code, written in 3 billion little letters across each one of us, one copied from mum, one copied from dad, even just our genomic code of one person is a large amount of data. That is just part of the story because we’re not just interested in DNA for DNA’s sake, this is about thinking about health and how we can improve health outcomes. So, it’s also thinking about the other sorts of information that needs to link to genomic data to make a difference. Whether that’s just to provide routine healthcare with today’s knowledge, or whether it’s about continuing to learn and discover. 

As I mentioned at the beginning, I think a really important part of this whole picture is we’ve learnt a lot in the last 20/30/40 plus years about genomics. It’s incredible how much progress has been made, and we’re really just scratching the surface. Take rare disease and the progress that’s been made there, it’s wonderful how many more families we’re able to help today. We know that many thousands of families we still can’t find a diagnosis for when we know that there is one there for many of them. That theme of ongoing learning is at the centre of all of our work, and that will continue as we look about broader uses of genomics in other settings beyond rare conditions and cancer. It’s also that ongoing learning, but also the amount of, at the moment, manual steps that are required in some of the processes that we need to, for example, find a diagnosis for someone or to make sure the tools that we use are the most up to date, the most up to date with the medical literature, for example. AI is a tool that we’re, as the whole of the society, we’re beginning to see how it can play a role. We see it as important today for some of the just really practical things. I mentioned it, staying up to date with the medical literature, making sure that we and our systems are aware of all of the knowledge that’s coming in from around the world. It’s got real potential there. 

I think the biggest bottom line here is that it’s got the potential to be a really important tool in terms of our ongoing learning and improvement. I’m a doctor by background, the human intelligence alone is fantastic, it’s moved us a long way, but we know it also has tremendous blind spots. AI has the potential to complement us there. I guess another thing to really call out here, AI isn’t a panacea, it’s not suddenly going to answer all of the questions. And, just like human intelligence, it will have its own biases, have its own strong points, and less strong points. 

One of the things we’re really committed to is working with people like Karim, and many others, to understand where AI could make a difference, to test it, to generate evidence on how well it works and an understanding in all sorts of ways about how that might play out. And, make sure that as AI becomes a tool, that we in genomics, but also in other areas, we understand its strong points and where we need to be more careful and cautious with it. That’s a really important part of what we’re going to be doing in the coming years here, is making sure that we can maximise the impact of it, but also be confident, so that we can explain to people whose data we might use it on how we’re doing it and what it’s bringing. 

Sharon: Thanks Rich. It’s definitely a fast-moving conversation of which we really want to be part of. One of the things that’s come up again and again this year is participation and co-production. Let’s hear quote that really captures that. 

Bobbie: In an earlier conversation with Paul, which you might find surprising that it’s stuck with me so much, he used the word ‘extractive’. He said that he’d been involved in research before and looking back on it, he had felt at times it could be a little bit extractive. You come in, you ask questions, you take the data away and analyse it, and it might only be by chance that the participants ever know what became of things next. One of the real principles of this project was always going to be co-production and true collaboration with our participants. 

Sharon: That was Professor Bobbie Farsides talking about moving away from extractive research towards true co-production. How are we making that shift in practice here at Genomics England? 

Rich: It’s a great question. It’s one of the areas where I think we’ve learnt most as an organisation over the years about how really engaging from the beginning with potential participants in programmes, participants who join our programmes, people who are involved in delivering our programmes and healthcare is so important at the beginning. I mentioned earlier the work to think about the consent process for the Generation Study, and that’s one of the areas where I think from our first programme, 100,000 Genomes Project, we learnt a lot about how to do that well, some of the pitfalls, some of the bits that are most challenging. And really, right from the start of our programmes, making sure that people who will potentially benefit from the programmes, potentially join them, can be part of that engagement process, and really part of the design and the shaping of the research questions, the parameters around research, but also the materials and how people will engage with them. And that’s one of the key capabilities we have internally as an organisation, so we work with partners externally, but also it’s a really key part of the team that we have at Genomics England. 

Sharon: So, whilst Bobbie talked about moving away from research that can feel one-sided and towards true collaboration, in another episode, Lindsay, a parent of a child with a rare condition, reflected on what that change really means for families and how it’s empowering to see their voices and experiences shaping future treatments. 

Lindsay: Historically, there’s been a significant absence of a patient voice in rare disease research and development. And knowing that that’s changing, I think that’s really empowering for families. To know that professionals and industry are actually listening to our stories and our needs and really trying to understand, that offers much greater impact on the care and treatments of patients in the future. 

Sharon: So, what role do you see participants as partners in shaping the next phase of Genomics England’s work? 

Rich: So, as you probably detected from my last answer, we see it as absolutely vital. One of the really exciting things here at Genomics England, we’ve had a participant panel from very early in our life as an organisation. That’s one really important route to us at the heart of our organisation, part of our governance, making sure that participants representing all sorts of parts of our programme, but rare conditions being a really large focus for us. And I think, what’s so striking as someone with a medical and a research background can see how I think historically medics and researchers have sometimes not known, sort of maybe been a bit scared about knowing how to involve participants from the outset. Often, because they’re worried that they might ask the wrong questions in the wrong way, they just don’t have the tools.  

One of the things I often say now to people we work with is one of the most empowering and positive experiences we have at Genomics England is the power of our participants helping to, right from the beginning, shape what the questions are that we should be asking. Realise some of the challenges that you can’t possibly, if you’re not in their shoes, understand are the most important to really shape how we prioritise our work internally, the problems that we need to solve first, how we think about some of the practical impacts on people’s lives that, again, without hearing from their voice you just wouldn’t know. And again, to help our researchers, people accessing data in the National Genomic Research Library, helping them make sure that they involve participants in their work and the confidence and tools to do that. 

Sharon: That’s great, thank you. Another big theme this year has been collaboration across the NHS, academia, and industry. Dr Raghib Ali puts this really well. 

Raghib: There are areas where academia and the NHS are very strong, and there are areas where industry is very strong, and why working together, as we saw, you know, very good examples during the pandemic with the vaccine and diagnostic tests, etc., a collaboration between the NHS, academia, and industry leads to much more rapid and wider benefits for our patients and, hopefully, in the future for the population as a whole in terms of early detection and prevention of disease. 

Sharon: So, how does collaboration fit into the 10-year health plan and what’s next for 2026 in that space, Rich? 

Rich: I think one of the most enjoyable parts of my role at Genomics England and our role as an organisation is the fact that we see ourselves very much as part of a, sort of team across the UK and in fact internationally in terms of delivering on the potential we see for genomics. So, we have a vision as an organisation, which has been the same the last 5 or so years, which is a world where everyone can benefit from genomic healthcare. In fact, that vision is now shared by the NHS from a genomics perspective, and really demonstrably, the 2 parts of the system absolutely pointing in the same direction. And when we’ve been thinking, looking forward with that 10-year lens on it, what we always like to do, and I think it’s a real privilege to be able to do, because we’re here in the UK, because we have a National Health Service, because there’s been that long-term commitment from government on genomics and really taking a long-term investment view there, and because of so many other parts of the ecosystem, other experts who access data in the National Genomic Research Library, research organisations like Our Future Health, UK Biobank, all teaming together, and the expertise that’s there in genomics more broadly. So we’ve, if you like, worked back from what the UK could do as whole, and in the 10-year health plan, as I said earlier, genomics is at the heart of that. 

There’s a double helix on the front cover and, in fact, on the watermark on almost every page. And, there’s this view set out there where as many as half of all health interactions by 2035 could be informed by genomics or other similar advanced analytics. And we think that that’s a really ambitious challenge. We see a really important role for us, as Genomics England, in contributing to that, but it’s very much a team effort. Our role is around where we have the biggest capabilities, so around building and running digital infrastructure at a national scale for healthcare delivery and for research, to building evidence to inform future policies, so running programmes like the Generation Study to inform future policy. And really, as part of that, that evidence piece, being driven by engagement, ethics, and work on equity, to really make sure that evidence that future policy can be built on is informed by a fully rounded view. We think if we do that right that we could as a country with others, the NHS, research organisations, many others could live up to that ambition that’s set out there in the 10-year plan.  

And the 10-year plan is really clear, and government is really clear that this is about improving health outcomes. But it’s also part of a broader benefit to the country because the UK is recognised already as a great place from a genomics perspective. We think playing our role in that won’t just bring the health benefits, it also will secure the country’s position as the best place in the world to discover, prove and where proven role out benefit from genomic innovations. And we think it’s so exciting to be part of that team effort. 

Sharon: So, Genomics England’s refreshed mission and direction of travel is really setting out how we move from research to routine care, and how we embed genomics across the health system. Carlo Rinaldi captured the idea perfectly, imagining a future where diagnosis and hope arrive hand in hand. 

Carlo: My dream is that in five to ten years’ time an individual with a rare disease is identified in the clinic, perhaps even before symptoms have manifested. At that exact time the day of the diagnosis becomes also a day of hope, in a way, where immediately the researcher, the genetic labs, flags that specific variant, that specific mutation. We know exactly which is the best genetic therapy to go after.  

Sharon: And Rich, what are your thoughts on that? 

Rich: I think Carlo captures it really well. And for us, I think a really big theme is for that potential for genomics to make a difference, a continued and in fact increased difference for people with rare conditions and cancer, areas where it’s already making a difference, but also with the potential to make a much broader impact for people across the population. The real theme is embedding genomics into routine care, making it something that you don’t need to know that you’re seeing an expert in genomics to benefit from it, really make sure that those benefits can be felt as just part of routine care. It’s not something separate where we recognise that the best healthcare is healthcare that’s supported by all sorts of inputs, with genomics being a key part of that, and that we can continue to learn as we do that. So that with people’s consent, with their understanding of how their data is being used, we know that if we don’t have the best answer for them today, we give the best answer we can today, and we can continue to learn, and they can benefit from that in the future.  

I’m a rare disease doctor by background, and one of the really most enjoyable parts of my job is seeing that come to practice. In the last year or so I’ve had a number of families where I’ve been seeing the family for years, and a researcher accessing data in the National Genomic Research library has found an answer that we’ve not been able to find for maybe their child’s whole life, and then finally we’re able to feed it back. Seeing that come to life is just so wonderful, and I think gives us a bit of a blueprint for how things could work more generally. 

Sharon: That’s great. I mean, what a feeling for those families who do get those answers. As we look ahead to 2026 and beyond, the conversation is starting to include prevention, using genomics not just to diagnose conditions but to predict and treat and even prevent them. Alice Tuff-Lacey summarised this nicely in an episode about Generation Study. 

Alice: This is quite an exciting shift in how we use whole genome sequencing, because what we’re talking about is using it in a much more preventative way. Traditionally where we’ve been using it is diagnostically where we know someone’s sick and they’ve got symptoms of rare condition, and we’re looking to see what they might have. What we’re actually talking about is screening babies from birth using their genome to see if they’re at risk of a particular condition. And what this means is this raises quite a lot of complex ethical, operational, and scientific and clinical questions. 

Sharon: Rich, when you think about 2026, what’s your biggest hope for where we’ll be this time next year? 

Rich: I think it’s a really exciting time. As you can tell from how we’ve been speaking, I’m really excited about the direction of travel and how over the next 5 and 10 years we can really make a transformational shift because of how well placed we are in the UK from a genomics perspective. Where we are with today’s knowledge, where we could be because of the continued government and NHS commitment to genomics being at the heart of this, if we build the right infrastructure, if we generate the right evidence to inform what’s adopted, I think we’re in a really exciting place. 

From a 2026 perspective, I think what we’re really committed to is continuing to do the work, the day-by-day-by-day work that is to build that incrementally. So, a really big focus for us is continuing to support the NHS and making sure researchers can access data, so that flow of answers for families can continue and grow, accelerate, to continue delivering the Generation Study because it’s a really important part of that wider jigsaw to generate the evidence that can inform future policy on whether this is something that’s adopted and offered routinely to every child when they’re born. 

I think a really important time now that the government’s provided the opportunity for us as a team, as a UK genomics and life sciences ecosystem, is to really put in place some of the next steps, the building blocks that can take us towards that 10-year vision. So for us also, a really important part of the year is beginning the design process for an adult population genomics programme, where we’re looking at what evidence it’s important that we can provide that’s complementary to different work around by others in the ecosystem that needs to be there if we’re going to think about that potential broader use of genomics. 

Sharon: That’s great. It sounds like another exciting year ahead. So, we’re going to wrap up there. Thank you to Rich Scott for sharing your reflections on the key milestones this year, and for your thoughts on the year ahead. Thanks, Rich. 

Rich: Thanks very much for having me. 

Sharon: If you enjoyed today’s episode, we’d love your support, so please subscribe, share, and rate us on wherever you listen to your podcasts. I’ve been your host, Sharon Jones. This podcast was produced by Deanna Barac and edited by Bill Griffin at Ventoux Digital. Thank you for listening. 

Dr Katie Snape: How can genomics help us understand cancer?

In this explainer episode, we’ve asked Dr Katie Snape, principal clinician at Genomics England, cancer geneticist, and specialist in inherited cancer, to explain how genomics can help us understand cancer.

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.

Flo: How can genomics help us understand cancer?  

I'm Florence Cornish, and today I'm joined with Katie Snape, who is Principal Clinician here at Genomics England, lead Consultant for Cancer Genetics at the Southwest Thames Centre for Genomics, and Chair of UK Cancer Genetics Group.

So Katie, it's probably safe to say that everyone listening will have heard the word cancer before. Lots of people may have even been directly affected by it or know someone who has it or who has had it, and I think the term can feel quite scary sometimes and intimidating to understand. So, it might be good if you could explain what we actually mean when we say the word cancer.  

Katie: Thanks, Florence. So, our bodies are made up of millions of building blocks called cells. Each of these cells contains an instruction manual, and our bodies read this to build a human and keep our bodies working and growing over our lifetimes. So, this human instruction manual is our genetic information, and it's called the human genome.

Throughout our lifetime, our cells will continue to divide and grow to make more cells when we need them. And this means that our genetic information has to contain the right instructions, which tell the cells to divide when we need new cells, like making new skin cells, for example as our old skin cells die, but they also need to stop dividing when we have enough new cells and we don't need anymore. And this process of growing but stopping when we don't need anymore cells, keeps our bodies healthy and functioning as they should do.

However, if the instructions for making new cells goes wrong and we don't stop making new cells when we're supposed to, then these cells can grow out of control, and they can start spreading and damaging other parts of our body. And this is basically what cancer is. It's an uncontrolled growth of cells which don't stop when they're supposed to, and they grow and spread and damage other tissues in our body.

Florence: So, you mentioned there that cancer can arise when the instructions in our cells go wrong. Could you talk a little bit more about this? How does it lead to cancer?

Katie: Yeah. So the instructions that control how our cells should grow and then stop growing are usually called cancer genes. So our body reads these instructions a bit like we might read an instruction manual to perform a task.

So if we imagine that one of these important cancer genes that has a spelling mistake, which means the body can't read it properly, then those cells won't follow the right instructions to grow and then stop growing like they should. So if our cells lose the ability to read these important instructions due to this type of spelling mistake, then that's when a cancer can develop. As these spelling mistakes happen in cancer genes, we call them genetic alterations or genetic variants.

Florence: And so, when you're in the clinic seeing somebody who has cancer, what kinds of genomic tests can they have to help us find out a little bit more about it?

Katie: So the genetic alterations that can cause cancer can happen in different cells. So that's why cancer can affect many different parts of the body. If a genetic alteration happens in a breast cell, then a breast cancer might develop. If the alteration happens in a skin cell, then a skin cancer could develop. We can take a sample from the cancer. This is often known as a biopsy, and then we can use this sample to extract the genetic information to read the instructions in the cancer cells, and when we do this, we are looking for spelling mistakes in the important cancer genes, which might of course, those cells to grow out of control.

We can also look for patterns of alterations in the cells, which might tell us the processes that led to those genetic alterations occurring. For example, we can look at patterns of damage in the genetic information caused by cigarette smoke, or sunlight, or problems because the cell has lost its ability to mend and repair its genetic information.

And we can also count the number of different alterations in the cancer cell, which might tell us how different that cancer cell is from our normal cells, and that can be important because we might be able to use medications to get our immune system to attack the cancer cells.

So where we see genetic alterations in a cancer cell, we call them acquired or somatic alterations because we weren't born with them, but they've happened in a cell in our body at a later stage, and they've caused those cells to become uncontrollable and to keep growing.

Sometimes people can be born with a genetic alteration in a cancer gene that significantly increases the chance of them developing cancer in their lifetime. This type of genetic alteration can be inherited, and so these changes can be shared by relatives. If we see more cancer in a family than we would expect by chance, or unusually young cancers or patterns of cancer, or there are other signs that a cancer patient might have an inherited cancer gene causing their cancer, then we can offer a test to check for this as well.

Florence: And so, when we do these tests, what are we looking for specifically? What is it that we're trying to find out about a person's cancer that could help us to treat it as effectively as possible?

Katie: So all of these genetic tests are helping us understand why a cancer has developed and what are the underlying changes that cause the cells to grow out of control. If we understand why the cancer developed, we can choose medications to try and treat the cancer and these specifically target the underlying problems in the cell, and hopefully attack the cancer cells, but not the normal cells in the body.

We call this precision or personalised medicine. Many newer cancer drugs specifically target the changes that have occurred in the cancer cells as part of this process for becoming cancer, and they kill those that carry specific genetic changes which have caused those cells to grow uncontrollably.

Florence: I wanted to ask you now about inherited cancer risk. So by this we mean if a parent has a change in one of their genes that increases their risk of developing cancer, there's a possibility that they can then pass this gene along to their children. Is there anything we can do to manage these inherited risks?

Katie: If a person has an inherited change, increasing cancer risk, we can offer them programs to help reduce that risk. There are different things that we might offer them. So, for example, for some conditions we have preventative medication. There is a condition called Lynch syndrome, which is due to a change in some cancer genes, and people who have Lynch syndrome have a high chance of developing bowel and womb cancers, amongst others.

For people with Lynch syndrome, they can take a daily low dose aspirin, and this reduces their chance of developing a bowel cancer by about a half. Or in other cases, we can offer extra screening and that will allow us to catch any cancers that do occur at an earlier stage when they're more likely to be more effectively treated. So for example, if someone has a high risk of breast cancer, we could offer them extra and more frequent screening of their breast.

Another option is we could offer risk reducing surgery. So, for example, if someone had a higher chance of developing ovarian cancer after the age of 50, we could offer removal of the tubes and ovaries as their chance of cancer starts to increase, and that would significantly reduce their risk of developing cancer in the future. 

Florence: And, working in this space, you and I know that research groups are working all the time to try and better understand cancer and how we might be able to treat it more effectively. Could you tell me about how genomics in particular is helping to advance the detection and treatment of cancer? 

Katie: Genomics is helping develop both our understanding of how and why cancer develops, and as well as that, it's also helping us find new cancer treatments all the time.  

There are already many drugs that are available to cancer patients that specifically target the genetic changes found in their cancer. In addition to that, there are many clinical trials now for cancer patients, which use the information from genomic sequencing to help guide new research into better treatments based on the genetic alterations in the cancer cell. 

We are increasingly using genetic testing to identify more at-risk people with inherited changes in the population as well, so that we can make sure if they have a higher chance of developing cancer in their lifetime, that they get the best prevention and screening programs available. our understanding of genomics is really impacting both our understanding of what causes cancer, how we treat it, and how we can prevent it as well. 

Florence: So, I think we'll finish there. Katie, it's been so great to talk to you and to learn more about why genomics is proving to be so important in helping us to understand cancer.  

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

Amanda Pichini: What is a genetic counsellor?

In this explainer episode, we’ve asked Amanda Pichini, clinical director at Genomics England and genetic counsellor, to explain what a genetic counsellor is.

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

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

You can download the transcript or read it below.

Florence: What is a genetic counsellor? I'm Florence Cornish, and today I'm joined with Amanda Pichini, a registered genetic counsellor and clinical director for Genomics England, to find out more.  

So, before we dive in, lots of our listeners have probably already heard the term genetic counsellor before, or some people might have even come across them in their healthcare journeys. But for those who aren't familiar, could you explain what we mean by a genetic counsellor? 

Amanda: Genetic counsellors are healthcare professionals who have training in clinical genomic medicine and counselling skills. So they help people understand complex information, make informed decisions, and adapt to the impact of genomics on their health and their family. They're expert communicators, patient advocates, and navigators of the ethical issues that genomics and genomic testing could bring. 

Florence: Could you maybe give me an example of when somebody might see a genetic counsellor?  

Amanda: Yes, and what's fascinating about genetic counselling is that it's relevant to a huge range of conditions, scenarios, or points in a person's life. 

Someone's journey might start by going to their GP with a question about their health. Let's say they're concerned about having a strong family history of cancer or heart disease, or perhaps a genetic cause is already known because it's been found in a family member and they want to know if they've inherited that genetic change as well.  

Or someone might already be being seen in a specialist service, perhaps their child has been diagnosed with a rare condition. A genetic counsellor can help that family explore the wide-ranging impacts of a diagnosis on theirs and their child's life, how it affects their wider family, what it might mean for future children. You might also see a genetic counsellor in private health centres or fertility clinics, or if you're involved in a research study too.  

Florence: And so, could you explain a bit more about the types of things a genetic counsellor does? What does your day-to-day look like, for example?  

Amanda: Most genetic counsellors in the UK work in the NHS as part of a team alongside doctors, lab scientists, nurses, midwives, or other healthcare professionals. Their daily tasks include things like analysing a family history, assessing the chance of a person inheriting or passing on a condition, facilitating genetic tests, communicating results, supporting family communication, and managing the psychological, the emotional, the social, and the ethical impacts of genetic risk or results.  

My day-to-day is different though. I and many other genetic counsellors have taken their skills to other roles that aren't necessarily in a clinic or seeing individual patients. It might involve educating other healthcare professionals or trainees, running their own research, developing policies, working in a lab, or a health tech company, or in the charity sector.  

For me, as Clinical Director at Genomics England, I bring my clinical expertise and experience working in the NHS to the services and programmes that we run, and that helps to make sure that we design, implement, and evaluate what we do safely, and with the needs of patients, the public, and healthcare professionals at the heart of what we do.   

My day-to-day involves working with colleagues in tech, design, operations, ethics, communications, and engagement, as well as clinical and scientific experts, to develop and run services like the Generation Study, which is sequencing the genomes of 100,000 newborn babies to see if we can better diagnose and treat children with rare conditions. 

Florence: So, I would imagine that one of the biggest challenges of being a genetic counsellor is helping patients to kind of make sense of the complicated test results or information, but without overwhelming them. So how do you balance kind of giving people the scientific facts and all the information they need, but while still supporting them emotionally?  

Amanda: This is really at the core of what genetic counsellors can do best, I think. Getting a diagnosis of a rare condition, or finding out about a risk that has a genetic component, can come with a huge range of emotions, whether that's worry, fear, or hope and relief. 

It can bring a lot of questions, too. What will this mean for my future or my family's future? What do you know about this condition? What sort of symptoms could I have? What treatments or screening might be available to me? So genetic counsellors are able to navigate all of these different questions and reactions by giving an opportunity for patients and families to discuss their opinions, their experiences, and really trying to get at the core of understanding their values, their culture, their expectations, their concerns, so that they can help that individual make an informed decision that's best for them, help them access the right care and support, adjust or find healthy coping strategies, or maybe even change their lifestyle or health behaviours. So it's really finding that balance between the science, the clinical aspects, the information, and the support. 

Florence: So obviously working in this space, I get to read about lots of incredible research all the time, and it feels like genetics and genomics seems to be changing and advancing day by day. So, I'd be interested to know what this means for you and for other genetic counsellors, what's coming next?  

Amanda: Yeah, so as we continue to see advances in genetics and genomics, there's, I think, a really increasing need for genetic counselling expertise to help shape how these technologies are used and with giving the right consideration for the challenges around what this means for families and for wider society. 

Genomics is also still growing the evidence base it needs to provide a consistent and equitable service. We're seeing digital tools being increasingly available to give people information in innovative ways, seeing huge advancements in targeted treatments and gene therapies, that are changing fundamentally the experiences of people living with rare conditions and cancers. And we're using genomics more and more to predict future health risks and how people might respond to certain medications. So, there's a huge amount that we're seeing sort of coming for the future.  

What's interesting is the 10-Year Health Plan that the government has set out for the NHS provides, I think, huge opportunities for genomics. For example, we'll see healthcare brought closer to local communities, genomics being used as part of population health, reaching people closer to where they are and hopefully providing greater access.  

But I think the key thing in all of this is knowing that genomics is really just a technology. It requires people with the right skill sets to use it safely and to be able to benefit everyone, and genetic counsellors are a huge part of that.  

Florence: And finally, in case anyone listening has been inspired by this conversation and wants to build a career like yours, what advice would you have to offer somebody hoping to become a genetic counsellor in the future?  

Amanda: To train as a genetic counsellor in the UK, you usually need an undergrad degree in biological sciences, psychology, or being a nurse or midwife. The background can be varied, but usually driven by a common thread, a desire to sort of improve healthcare experiences for patients and make genomic healthcare widely accessible and safely used for everyone. 

You can apply for the 3-year NHS scientist training programme, or there's also master's degrees offered through Cardiff University, for example. In general, I'd encourage people to check out the website for the Association of Genetic Nurses and Counsellors, and reach out to genetic counsellors to ask about their career and their journey as much as possible, as well as seeking opportunities to really understand the experiences of people living with rare genetic conditions, because that will help you understand the ways in which genetic counselling can have an impact. 

Florence: We'll finish there. Thank you so much, Amanda, for all of those insights and for explaining what it means to be a genetic counsellor. If any listeners want to hear more explainer episodes like this, you can find them on our website at www.genomicsengland.co.uk or wherever you get your podcasts. 

Thank you for listening. 

Dr Emily Perry: What is the Genomics England Research Environment?

In this explainer episode, we’ve asked Dr Emily Perry, research engagement manager at Genomics England, to explain what the Genomics England Research Environment is.

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

You can listen to the previous episodes mentioned in this podcast

• How has a groundbreaking genomic discovery impacted thousands worldwide?
• What is the National Genomic Research Library

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 Genomics England Research Environment? My name is Florence Cornish and I'm here with Emily Perry, Research Engagement Manager at Genomics England, to find out more.

So Emily, before we dive into the Research Environment, let's set some context. Could you explain what Genomics England is aiming to do as an organisation?

Emily: So, Genomics England provides genome sequencing in a healthcare setting for the National Health Service in England. As we sequence genomes for healthcare, the benefit is that we can also put that genomic and clinical data out for research in a controlled manner, and then that can also feed back into healthcare as well. So, it's really, this kind of cyclical process that Genomics England is responsible for.

Florence: And so, what do we mean when we say Research Environment?

Emily: So, the Research Environment is how our researchers can get access to that clinical and genomic data that we get through healthcare. So, it's a controlled environment, it's completely locked down, so it's kind of like a computer inside a computer. And in there, the researchers can access all of the data that we have and also a lot of tools for working with it in order to do their research.

We refer to the data as the National Genomics Research Library, or the NGRL. The NGRL data is provided inside the Research Environment

Florence:  So you mentioned the National Genomic Research Library. If any listeners want to learn more about this, you can check out our previous Genomics 101 podcast: What is the National Genomic Research Library?

And so Emily, could you talk about what kind of data is stored in this library?

Emily: So the library is made up of both genomic data and clinical data, which the researchers use alongside each other. The genomic data includes what we call alignments, which is where we match the reads from sequencing onto a reference sequence, and variants, which is where we identify where those alignments differ from the reference sequence, and this is what we are looking for in genomic research.

The clinical data includes the data that was taken from our participants at recruitment, so details of the rare disease, the cancer, that they have, but also medical history data. So, we work with the NHS and we're able to get full medical history for our participants as well.

This is all fully anonymised, so there's no names, there's no dates of birth, there's no NHS numbers. It's just these identifiers which are used only inside the Research Environment and have no link to the outside world.

Florence: And so how is this clinical and genomic data secured?

Emily: So, as I said there's no names, there's no NHS numbers, there's no dates of birth.  And we have very strict criteria for how people can use the data. So researchers, in order to get access to the Research Environment, they have to be a member of a registered institution, they have to submit a project proposal for what it is that they want to study with the data.

There's also restrictions on how they can get the data out, so they do all their research inside, there's no way that they can do things like copy and paste stuff out or move files. The only way that they can get data out of the Research Environment is going through a process called Airlock, which is where they submit the files that they want to export to our committee, who then analyse it, check that it's in accordance with our rules and it protects our participants' safety and that only then would they allow them to export it.

Florence: Who has access to the Research Environment?

Emily: We have researchers working with the Research Environment all over the world. There's 2 kind of major groups. One of them is academia, so this will be researchers working in universities and academic institutions. The other side of it would is industry - so this will be biotech, startups, pharma companies, things like that.

Florence: And finally, can you tell us about some of the discoveries that have been made using this data?

Emily: There's lots of really cool things that have come out of the Research Environment.  A recent story that came out of the Research Environment was the ReNU syndrome, it was initially just one family that they identified this in, and they were able to extend this discovery across and identify huge numbers of individuals who had this same disorder because they had their genomes within the Research Environment.

Florence: You can hear more about this research in our previous Behind the Genes podcast: How has a groundbreaking genomic discovery impacted thousands worldwide?

So, we'll wrap up there. Thank you so much, Emily, for sharing more about what we mean by the Genomics England Research Environment.

If you'd like to hear more explain 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.

 

Jenna Cusworth-Bolger, Tracie Miles and Rachel Peck: How are families and hospitals bringing the Generation Study to life?

In this episode, we step inside the NHS to explore how the Generation Study is brought to life - from posters in waiting rooms to midwife training. We follow the journey of parents joining the study at the very start of their baby’s life, and hear from those making it happen on the ground. 

Our guests reflect on the teamwork between families and hospitals, the importance of informed consent, and the powerful insights this study could unlock for the future of care and research. 

Our host Jenna Cusworth-Bolger, Senior Service Designer at Genomics England, is joined by: 

• Tracie Miles, Associate Director of Nursing and Midwifery at the South West Genomic Medicine Service Alliance, and Co-Investigator for the Generation Study at St Michael’s Hospital in Bristol

• Rachel Peck, parent participant in the Generation Study and mum to Amber

If you enjoyed today’s conversation, please like and share wherever you listen to your podcasts. 

For more on the Generation Study, explore: 

• Podcast: How has design research shaped the Generation Study 

• Podcast: What can we learn from the Generation Study 

• Podcast: What do parents want to know about the Generation Study 

• Blog: Genomics 101 - What is the Generation Study 

• Generation Study official website 

 “I think from a parent’s point of view I guess that's the hardest thing to consent for, in terms of you having to make a decision on behalf of your unborn child. But I think why we thought that was worthwhile was that could potentially benefit Amber personally herself, or if not, there's a potential it could benefit other children.”

You can download the transcript, or read it below.

Jenna: Hi, and welcome to Behind the Genes.  

Rachel: I think if whole genome sequencing can help families get answers earlier, then from a parent perspective I think anything that reduces a long and potentially stressful journey to a diagnosis is really valuable. If a disease is picked up earlier and treatment can start sooner, then that could make a real difference to a child or even Amber’s health and development.

Jenna: My name is Jenna Cusworth-Bolger and today I have the great pleasure to be your host. I’m a senior service designer at Genomics England specifically working with the hospitals involved in delivering the Generation Study. In March 2023 we started with our very first hospital, St. Michael’s in Bristol. I am today joined by Tracie Miles who I had the utter pleasure of working closely with when they were setting up. And we also have Rachel Peck, one of the mums who joined the study in Bristol. Regular listeners to this podcast may already be familiar with the Generation Study but for those who are not, the Generation Study is running in England and aims to sequence the genomes of 100,000 newborn babies from a cord blood sample taken at birth. The families consented to take part will have their babies screened for over 200 rare genetic conditions most of which are not normally tested for at birth. We expect only 1% of these babies to receive a condition suspected result, but for those 1,000 families that result could be utterly life changing as it could mean early treatment or support for that condition.

Would you like to introduce yourselves and tell us what it means to you to have been that first hospital open in this landmark study. Tracie, I’ll come to you first. 

Tracie: Hi Jenna, lovely to be with you all this morning. And for those who are listening it is early in the morning, we get up early in the morning because we never know when these babies are going to be born on the Generation Study and we have to be ready for them. So, my name is Tracie, I am the Co-Investigator with the wonderful Andrew Mumford, and we work together with a huge team bringing this study to life in Bristol. I am also the Associate Director of Nursing and Midwifery at the South West Genomic Medicine Service Alliance.

Jenna: Thanks Tracie. We’re also joined today by Rachel. Would you like to introduce yourself and your baby, and tell me when you found out about the Generation Study? 

Rachel: Hi, thank you for inviting me. My name’s Rachel, I’m based in Bristol. My baby is Amber; she was born four months ago in St. Michael’s hospital in Bristol. I first heard about the Generation Study when I was going to one of my antenatal appointments and saw some of the posters in the waiting room. Amber is napping at the moment, so hopefully she’ll stay asleep for long enough for the recording.

Jenna: Well done, that's the perfect mum skill to get a baby to nap whilst you’re busy doing something online. So, Rachel, you said you heard about the study from a poster. When you first saw that poster, what were your initial thoughts?

Rachel: I thought it was really interesting, I haven’t come across anything like that before and I thought the ability to screen my unborn baby at the time’s whole genome sounded really appealing. 

Jenna: Fantastic. So, what happened after the poster? 

Rachel: If I remember correctly, I scanned the QR code on the poster which took me to the website. I filled out a few simple questions online and then I was contacted by one of the research team where I arranged a formal consent conversation. That was done by Zoom I think in the evening because I’ve already got a toddler at home so post bedtime works best for me. So, we had about a forty-minute conversation on the phone where I could ask all the questions that I needed to ask and if I was happy which I was. I then gave my consent and then I believe my maternity records were kind of highlighted to say that I signed up for the Generation Study and that when my baby was born then a sample was going to be taken, and I would be given the results in due course.

Jenna: And did all that go smoothly, that you’re aware of?

Rachel: Yeah, as far as I’m aware. It was genuinely really simple to do. After that initial consultation where I signed the consent form there wasn’t any follow-up appointments so the next thing I knew, I think it was just chance, but one of the research nurses actually came down to see me on the day which was really nice. Just to say, ‘Oh, just to let you know that the team are aware.’ And then, other than that, the next thing I knew was getting the results through by post.

Jenna: Sure. So, behind the scenes your baby’s blood was collected from the umbilical cord, that would have been registered, packaged, sent off and went on a whole journey for you to ultimately get your result. It all sounds very simple, but I think we’re going to dig into a lot of the mechanisms that kind of went behind the scenes to make something that seems simple come to life. Tracie, we met in the summer of 2023 I believe. I came to St. Michaels with a suitcase full of our materials which we had started to bring to life, including that poster. We’ve sat together and we were trying to figure out exactly how this was going to come to life in our very first hospital and how, what Rachel described, was actually going to become real. Tracie, can you tell me what you remember about those conversations and the thinking that you did as a team ahead of getting that green light to go ahead and start recruiting? 

Tracie: Listeners, just to let you know that Rachel hasn’t been primed to say that it was a seamless journey from delivery to getting results. I’m delighted to hear that it was. And I think the reason that we’ve achieved that in Bristol and across England now with the other teams that Jenna and the team have helped roll out, is teamwork. And part of our team is our mum, in this case Rachel. If you hear me or Jenna describing our mums as "Mia", that's the name, the significant name or the identifier we give for our participant. So, yeah, Jenna, I think the thing was it was about those first conversations. It was about teamwork and who shall we involve? We involved everybody didn’t we, Jenna? So, I know that the team, by the time they came to us they'd already been planning for two years. So, in fact what came to us in Bristol was a wealth of work and information, and two years of behind the scenes of the team working. We involved every midwife. Now a midwife is a cover all term. 

We involve community midwives, research midwives, antenatal midwives, post-natal midwives. They all do different things for the mum pathway. Not forgetting dad as well, he is involved in all of this and Rachel I’m sure will testify later to the fact that when she was offered the consent, her partner was offered to come along too. UHBW, that’s United Hospital Bristol and Western, that our maternity hospital as part of, have got a fantastic R&D department and they were on straightaway with the rule book checking that we knew what we were doing. So, for those of you that aren’t in the medical world, that's making sure we’ve got the right governance, that we’re doing things by the rule book. Andrew went out and spoke to lots of different clinicians that would be involved in the pathway after the results were back, for those babies where we found a condition suspected. So, essentially Jenna, I think the list that was fairly long, grew longer and longer.

Jenna: I think that was something that I was really struck by when I came back and visited you repeatedly after that. You were particularly good at getting some of those staff members that you might not even think about involved in the study, like the receptionist on your sonography department who you had recruited to make sure that they gave out the leaflet and the participant information sheet to all the mums coming in for their twenty-week scans etc. All that thinking was really valuable and something that I’ve passed on and taken out on my trips to other hospitals along the way. We heard from Rachel that she heard about this study from the poster. Now that you’ve been going for just over a year, what are all the different ways that people hear about the study, is it just the poster?

Tracie: No, it’s not just the poster. So, essentially when we first opened, we had lots of material. We had banners, we had posters. A short leaflet that you might often pick up at the GP, a little one that you can unfold into three pieces, and then a bigger patient information leaflet which actually described the whole study and also signposted the mums and dads to go and have a look on the website to hear more about it. What we did was we literally walked the mum’s journey as she came into the hospital through antenatal and placed those posters and leaflets in the places where we knew she would see them. Now we had to be very careful about that as well because we couldn't just distribute them everywhere, we wanted to make sure that mum was getting sight of them, or mum and dad if they were coming together, at a place where their pregnancy was in hopefully, a safe position. So, that's around about 20 weeks onwards.  

We didn’t want to be giving that information out in the early days of pregnancy when actually mum and dad are getting flooded with lots of information, but we wanted them to feel secure in their pregnancy and for us to feel clinically secure. That worked really well and really effectively, but there's nothing like people pairing. So, in fact getting our ultra sonographers. So, for those of you that have been through pregnancy will remember at around about twenty weeks you have a scan, it’s often called a dating scan or an anomaly scan, and we would get our receptionist to physically hand out a leaflet then.

What we have evolved over the last year working with the team from Genomics England to make sure that we keep the wording right so that we can share with all the other sites across England, because it’s good to have consistency. And also, as this evolves if this becomes standard of care, if this proves that actually this is useful for future-proofing for all of us in the public, if this study becomes something in real clinical terms, we’ve actually started sending out what we call, a signposting email. So, this is an email that goes to all of our prospective parents at 20 weeks plus, once we’ve checked that the pregnancy is safe and healthy. That has absolutely paid dividend and actually plays into the NHS future promise of analogue to digital to using those quick smart ways of working to reach our families. So, that has created a huge influx of recruits for us, Jenna. 

Jenna: That’s really interesting. We’ve sort of observed that same sort of thing. As we go through the hospitals now there's kind of three main ways that people are finding out the study. We call it like the passive way. So, that's what Rachel did which is the posters, the banners, but that doesn’t work for everyone. In hospitals poster blindness is real. And also, you’re coming for your twenty-week scan, you’ve got other things on your mind. You’re not really looking around wanting to pick up leaflets and things and obviously we’ve also got to think about our non-English speakers. Or even an English speaker who sees the poster, but their literacy isn’t very high, or their health literacy isn’t very high. So, reading a message that says something about genomics and testing, it can be quite overwhelming for people and not something that they would respond to. 

So, then we’re signposting as our other kind of keyway and that's trying to get exactly what Tracie described, all the different staff involved. Who could be physically putting this leaflet in somebody’s hand? Who could be mentioning it albeit briefly, just, you know, this is something you might like to consider. Rachel, I want to ask you what Tracie was describing there about the message kind of being better to be given later in pregnancy or after that 20-week scan point, because of all that information overload you get earlier in your pregnancy. Does that resonate with you? 

Rachel: Yeah, I think that sounds about right. For lots of people when there's so much uncertainty in early pregnancy and I think some people are quite almost superstitious and don't want to sign up for things that potentially might not happen. So, I think from a personal perspective and from other friends who haven’t been quite as fortunate, I think actually waiting until a little bit later when you’ve got a little bit more headspace and mental capacity for that sounds about right. I think there's too many things early on. It sounds like you’re aiming at the right spot.

Jenna: Absolutely. I think one of the other interesting aspects of all of this is the fact that Amber’s cord blood was taken on the day that Amber was born, and I’m interested to understand a little bit about how that baton was passed from the moment that you consented, Rachel, to make sure that that sample was taken. I know it sounds like Rachel; you were in hospital at a point that the staff were there so they actually popped down to your bedside to see you but that doesn’t always happen. Our teams don’t work 24/7 and babies do get born at 2:00 a.m. over a bank holiday weekend. But Tracie, how do you make sure that that kind of message is passed through at St. Michaels, and what's worked well and what have the challenges been? 

Tracie: So, a bit like how did we get the message through, is there one way? And the answer is no. There are posters, there are emails, etc. What we do do is first and foremost we encourage our mum, like Rachel here, and the dad, it might be two mums coming in together, to advocate for themselves. To say, ‘I’m on the Generation Study.’ We don’t expect that to be the only signal however because if a mum is coming in in full labour having done that a couple of times myself, I might forget. Now Genomics England have made some great bag tags, some stickers, all sorts of different visual identifiers that some hospitals around England are using, some aren’t. We in fact actually don’t get our mums to carry them, that may change. There are lots of different ways of doing it and every hospital maternity unit will find their fit. So, visual clues that mum and dad, or mum and mum, advocating for themselves as they come in, but also making sure that we have spoken with the delivery suite midwives and the theatre midwives.  

Because in our hospital, which it seems to be the same sort of ratio around the country, sometimes up to about 40% of deliveries are done in theatre. So, we need to make sure we talk to our theatre staff and the people there as much as our central delivery or labour ward, for listeners who aren’t familiar with the terms. So, we make sure that we went and walked the floor in the delivery labour ward and theatre on a regular basis. So, the task for us was to make sure that our midwives, all 200 of them know that if a mum is in the Generation Study and coming in for delivery, that they know that she’s on the study. So, ways we do that is research midwives are an absolute ally, they do walk the floor. They do pop down to delivery suite and they do alert the team that there is a potential that a mum might be coming in that week with a planned Caesarean section, that's one easy. That actually can be an email. But we still do that by word of mouth, or they have a big board up in the delivery suite, which I gather is quite often the way across a lot of the country.

Also, really, really key and this once again fits with our NHS plans, analogue to digital. The majority of our sites now are taking on electronic records. So, we put a key flag on the electronic record to say that this mum is on a research study. Staff are used to that because it’s not the only research study that is happening. Now it doesn’t have to just be an electronic note, it can be done on the retro paper notes as well. So, for those of you that have got paper notes or if we’ve got mums who are holding paper notes, fear not, there is an area on the notes where we can put that too. So, it’s basically anywhere where we know the delivery midwife has sight of the babies’ notes we will put a sticker, we will say something. So, it’s one size doesn’t fit all.

Jenna: Yeah, what you’ve described there is just so lovely and so true about it’s got to be belt and braces. The research team, the study team and the hospital might be a small number of people working Monday to Friday. Your people you completely rely on are those huge numbers of delivery midwives that need to have that message transmitted to them potentially over a 20 week timespan from the time the consent has happened to that day that that baby is born. So, what was really key as my role as service designer was going to the sites. I’m still doing this to this day, onboarding new sites all the time. We go and we speak to the sites, help them envisage how they might deliver this, how it’s actually going to work. What’s the nitty-gritty of all that mechanism that’s going to happen but making sure that what they really understand is, what's the outcome? What do we want to happen? We want as many babies as possible to have those cord bloods taken and not missed.

How you actually send that message whether it’s through a paper note, a sticker on a paper note, giving a pack to the family to bring in so they’ve got something physical to hand over to their delivery midwife as a physical memento. Magnets that are put on the handover boards, or any or all of these things, in lots of ways the hospitals that have still got paper notes actually find it easier because that can staple a bag with the bottle that we use for our cord blood samples and this mum is part of the Generation Study to the front of the notes. It’s more obvious than it would be as a digital flag.

Tracie: I totally agree with that, it’s all about that visual cue that we were talking about earlier. We actually fund a midwifery support worker, her name’s Lauren. Hello Lauren, if you’re listening. And what Lauren does is actually she makes sure that in all the rooms where women deliver that there are little set bags with all the equipment needed to take that cord blood. She also came up with a brilliant idea and again, a visual clue and Genomics England help us to design it, a poster. We would put on the outside of the door of mum and dad when they said they were on the study. So, if you’ve got a changeover of midwives then those midwives know that they’re going into a room to support and deliver a mum that's got a baby on the study.

Jenna: And I think that's something that's really key is what you said there about Lauren and her bright idea to create that poster and things like that, and that's been really key to how we’ve worked from Genomics England as a kind of service design kind of wrapper if you like around all of these hospitals. I have taken on the role of chief pollinator, so I’ve flown from hospital to hospital taking all the best ideas. So, Lauren’s idea of the poster, I came along and I took a photograph of that poster. That poster is in a slide and that slide gets shown when I go and do onboarding and training sessions with future hospitals.

Bristol were really key because as our first site and as the first early days check in we did, the photographs I took at your hospital at Birmingham Women’s and at the Rosie in Cambridge which were the first three hospitals, you still to this day make up a large percentage of what we show because you were the first to have all those great ideas and we share those out. But we don’t go round all the other hospitals, and we have found new ideas all the time and they are put together in our service design manual which is all available for all the sites. Something that St. Michael’s can refer back to to see what new things they could be thinking about. But basically, raising up the best and allowing hospitals to borrow from each other. Before we just move on from how it all works, I just want to ask Rachel, did you notice any of that or were you very busy having a baby? And did you remember to kind of advocate to yourself and mention the study?

Rachel: I did remember to advocate for myself, also it was one of the jobs that I allocated to my husband as well as a, well, if I forget which is likely, can you make sure that you mention to them. I had a caesarean section. For other people who have had caesarean sections, there's quite a lot of waiting round time. So, when we were in the theatre getting ready, having a chat with the anaesthetist it was a nice opportunity to be able to take my mind off the impending surgical procedure and just mention about the Generation Study. But incidentally, they knew about it anyway. I think I remember seeing some kind of sticker or maybe the blood tubes or something on my theatre records. But see them taking the sample, I wasn’t aware, I had other things on my mind at that point.

Jenna: Absolutely. You were cuddling Amber for the first time probably.

One of the things that you touched on Tracie, was you had to go round all of your delivery suite midwives and make sure they all knew how much blood to take, what tube to put it in. The fact that they had to invert it 10 times, put it in a particular fridge so that you knew where to find it. All of those are really important training messages that you had to pass on. But for you to be able to pass them on, we had to train you in the first place. So, my memory was that we came down to you one cold December day and spent a whole day with you down at St. Michaels trying our best to train you as seamlessly as we could. My memory of that day is it wasn’t terribly slick because it was our first and we’re always learning. I’d like to think we’ve got it a lot more slick now, but what do you remember about that day? And just in general kind of learning what you needed to do on the study and what kind of worked well for you, and what worked less well?

Tracie: I do remember that day, it was very cold. I think what's changed Jenna is on that December day the whole team felt that they were having to take on the whole of the journey. They now as the work has developed, realise and learn the part of the journey that they need to be involved in and don't have to be concerned about the rest of the journey.

Jenna: I learnt an awful lot and I think it’s really true that it’s really important that people who are taking the samples, they just need to know their role. But they do need to know a little bit about what the study is, why it’s worthwhile, why this mum has signed up and what value it’s going to bring to that family. I think the other thing that we learnt when we came to your training as well was in the same way that we went a bit too deep for some people in their role, we didn’t go deep enough for your team that were actually going to be doing these consent conversations. At that, at end of that training day, you still felt trepidatious about doing those conversations and so we really took that on board and then developed our informed choice cards which are like scenario cards that allow teams to kind of practice, rehearse and think through how they’re going to answer those common questions.

And we’ve taken those into a session that allows people who are just doing the consent conversation to go even deeper, so we do that online in a webinar now which we run monthly and that allows any new members of staff to go that little bit deeper in terms of what is this consent conversation? What is it that I need to get people to understand and be fully informed about before they come into this study?

A key objective of the Generation Study which after all is a research study, is to understand if the NHS and families would benefit if screening for conditions via whole genome sequencing was something that became part of NHS standard care. Rachel, can I ask you as a mum, is that something that you’ve reflected on at all and how would you feel about it? 

Rachel: Yeah, I’ve thought about quite a bit. I think if whole genome sequencing can help families get answers earlier then from a parent perspective, I think anything that reduces a long and potentially stressful journey to a diagnosis is really valuable. If a disease is picked up earlier and treatment can start sooner, then that could make a real difference to a child or even Amber’s health and development. So, I think that would be potentially very advantageous. I guess in a resource limited NHS that we have, there are, you know, clear challenges in rolling out whole genome sequencing for everyone. But I’m guessing that the Generation Study will provide the evidence to help understand if this is feasible or worthwhile. And clearly the Generation Study needs to show that the screening of these 200 or so conditions is as good as the existing screening that already exists. From a parent perspective, if it’s shown to be equally as good at doing that, plus all these other disorders then it seems like a win-win. 

I think for me the main advantage and the main reason why I was keen to enter for Amber was if she were at risk of getting one of these rare disorders then there's an advantage to picking that up earlier for her. Because I’m aware that lots of people if they have a rare disorder, it can take a long time to get to that diagnosis and that can be really stressful for you as the parent but also for the child. Anything I think to minimise their suffering is worthwhile. So, it sounds fantastic, if it works.

Jenna: Absolutely and I think that's what’s really nice about being involved in something like this is that the study itself is set out to find out those things. It’s not set out to find out how we could do whole genome sequencing in the NHS, it’s whether we should. As part of the study, you also consented to have Amber’s data go through into the National Genomic Research Library which leads us to one of the secondary objectives of the Generation Study which is to understand the implications of keeping a baby’s genomic data over their childhood, or even over their lifetime.

Amber will be contacted when she is 16 by Genomics England to find out whether she herself is happy for her data to be kept. But keeping that data for that length of time offers up opportunities for further screening for other conditions later in Amber’s life. Or using that data with your consent of course, to do further research into genes and health. And so over the next few years you may be contacted by Genomics England to invite you to take part in future studies. And, I was just wondering about how much you have been told about the potential for that and again, how you feel about that kind of aspect of being part of this study.

Rachel: Yeah, that was definitely discussed quite a lot in the consent conversation that I had with Siobhan, and we were told that Amber’s data would be stored long term and that there might be future opportunities for the team to kind of get in touch or do additional testing. And I think from a parent’s point of view I guess that's the hardest thing to consent for in terms of you having to make a decision on behalf of your unborn child. But I think why we thought that was worthwhile was that could potentially benefit Amber personally herself, or if not, there's a potential it could benefit other children. So, I think that whole kind of for the greater good, that kind of prevailed.

And I think the other, not concern as it were, but other thing we wanted to discuss with that consent was the security of that data. And certainly, when I was discussing it with my husband that was his kind of main point to kind of clarify, if the data is being stored long term and if that was safe. And in terms of the safety, thinking about could future employers or can insurance companies, you know, get hold of that data? As a parent, the last thing you want to do is accidentally prevent your daughter from getting a job that she wants to get. But it was all explained that that wouldn't happen, but I think that was something that was us for us personally important to clarify.

Jenna: I think that's really where that depth of the consent conversation is so key and why we do that sort of additional training to allow staff who may be very used to doing research and doing research consent, but never before have done a genomic consent where it’s about keeping genomic data and the implications of keeping it for that really long time. What else do you remember about that consent conversation, Rachel? Is there anything else that kind of stands out that you had to sort of really dig into with Siobhan on that day? 

Rachel: I’m just trying to think back because it was a little while ago. The main kind of points that I want to discuss was the security of the data and then what would happen if for whatever reason the umbilical cord blood sample wasn’t taken and if that meant that we could still be part of the study or not. It was explained that yes, there is a way, they would do an initial heel prick blood sample. But that was reassuring to know that if for whatever reason if there was some kind of emergency and it didn’t happen the way we wanted. So, I think that was the other kind of practical thing that was discussed. 

Jenna: It sounds like Siobhan sort of had by that point all of the answers at her fingertips, but that kind of links back I guess to how important it is for all the training and all of the materials, because quite a lot of the answers to those questions are in the participant information sheet. Quite a few of them are covered in the participant video which is a sort of a four-minute-long video, it’s meant to make the understanding a little bit more accessible. But it’s not relying on one route of information, it’s the conversation and that face to face you have with someone. It’s the written information and it’s those videos and other materials.

So, we need to go as far as we can to kind of get the word out. One of the limitations that we had, certainly back in the day when we just had St. Michael’s and a couple of other hospitals on board was that trying to get the word out about the study widely was also going to disappoint quite a lot of people who weren’t able to take part because their hospital wasn’t in it. We’ve talked a lot about this consent conversation, and I think something that's really important, underpinning for the whole study is the ethics that’s been involved and all the work that's been done around that area.

As the study is free and optional and taking part involves a commitment from families to have babies’ data held for at least 16 years, the consent conversation and getting that right is so vital. We touched upon this in a previous episode with my colleague Mathilde Leblond where we talked about all the design research that our team did in the build up to launching this study, so that we could really deeply understand what families wanted and needed as part of their experience. So, Tracie, we’ve heard from Rachel the things that she was concerned around, but what were your reflections as a team in St. Michaels around the ethical aspects of the study? And what has been particularly tough about that in relation to you guys in Bristol?

Tracie: I would say informed consent is something that we all take as healthcare professionals, and we all hold dearly the governance. So, I was mentioning earlier that actually consent may not be a one-off situation. So, for example, Rachel had forty minutes with Siobhan. That was the conversation that she had where Rachel felt that she was enabled and informed enough to take consent, and Siobhan listening to her having that conversation with Rachel felt that that was appropriate at the time. So, consent was achieved between the two of them. Now, that wasn’t the only part of Rachel’s consent is Rachel was telling us there's the patient information leaflet that she read, so that's also part of the informed consent. And we have to be sure that our mums and the other parent of the baby have read that information.

And one of the things that I was very worried especially about at the beginning was it’s a superb information leaflet, it’s quite long, it needs to be. It signposts the parents of the unborn baby to a website which is fantastic. Do they all look at it? Not always. Would I? Probably not. So, there's no criticism of the parents here. So, one of the things that I was really concerned about from the genomics perspective of this and the data protection because this is not a one-off, this is a longitudinal study. Amber when she’s 16 years old will decide whether or not she wants to continue, so it’s not a one-off moment that her lovely mum and dad have consented her for. There's a lot that’s been consented for. All great and all appropriate and all future-proofing for future Ambers. But my concern was actually, are we getting that information across to all the mums and dads as they sign up? So, it was really important that when we were training our midwives and our genomic practitioners, those that were consenting, to make sure that they were really cognisant of the enormity of the wealth of science we were signing our parents and their babies’ futures up to.

Jenna: Indeed, and very well said and I think you touched on something that is really close to our hearts as well that we’ve thought a lot about but still continue to do work to get right, which is the patient information leaflet if you have the health literacy and written language literacy to be able to sit and read a 16-page document, great, but not everybody does. As I’ve gone place to place and hospital to hospital, I’m always struck by the different communities that surround different hospitals and the different challenges that they might have. So, if you compare somewhere like Royal London which is in the heart of Whitechapel, I think around 40% of their birthing parents there are first generation Bengali women who have little to no English. Also, whose health literacy is quite low as well. So, engaging them takes a very different approach to an approach you might take elsewhere. So, it’s definitely not a one size fits all. Tracie, how have you adapted some of your approaches to your local communities in Bristol?

Tracie: So, we have a fairly diverse population, not as diverse as the Whitechapel example that you gave, but in fact we were aware, a bit like the team in London that we have a population of Somali potential birthing parents. What we’ve done is we’ve worked with community leaders and elders from the Somali population to develop a day, or it might be a couple of mornings, for us to talk about and workshop to explain about the study. So, we have all of the information. We have the translations that have been done by Genomics England. And hat we are doing is we are working with the community elders for them to tell us the right fit. Should it be a whole day? Probably not. Should it be a coffee morning or a tea morning? Probably. Should it be where we get a guest speaker in? That was their idea. What is the key condition suspected, one of those 200 conditions that the study is looking at that is prevalent in that community? Let’s ask the community elders what they think, and we’ll do what we’re told. So, it’s been fabulous actually doing that.

Jenna: It’s really, really great to hear about that. I think we’ve got little pockets of work like that popping up all over the country now which is really exciting to start seeing. I think at first, we were very much about getting the study up running and out there. And now we’re starting to make sure we get that reach and we get that equity, and the opportunity for all pregnant people to decide whether this is right or wrong for their family. It’s about informed choice and you can’t make an informed choice whether that's an informed yes or an informed no if you don't have the information.

We are proud that we go further than most research studies in terms of our accessibility, in terms of translations and we know that not English speaking is not the only barrier to access, there's lots of cultural barriers as well. But with the translated materials we support 10 languages as far as our professionally translated participant information leaflet. I was also really pleased when I found out at first that our website team had built the website in such a way that it worked not only with screen readers. So, somebody with a visual impairment could ‘read’, in inverted commas, the website but that also it translates via Google into the 160 languages that Google support, which we know Google translations aren’t perfect but they’re better than nothing.

And going back to what Tracie sort of said, the website doesn’t have to do everything, it’s about a conversation at the end of the day. It’s a consent conversation that can be supported by a professional interpreter but it’s about getting that initial message out there so they even get as far as having that conversation with an interpreter.

We heard from Rachel around her reflections for the future, Tracie, about the study potentially becoming NHS standard care and about that potential of us having Amber and 99,999 other babies’ data in the National Genomic Research Library and the potential that gives us for further research. Or for potentially re-screening those children as they grow up. When you look to the future and think about the Generation Study and what it might pave the way for, what are your hopes or perhaps fears?

Tracie: So, my belief working in the genomics field is genomics is everybody’s business. So, it’s the 3 of us talking today, we’re all very keen about genomics but there is a fear around genomics. Actually, I feel that this landmark study is absolutely fantastic. It makes genomics everybody’s business. And it actually helps the whole healthcare community looking after these parents and the unborn babies as they go through the journey learn about the positivity of genomics. I think this landmark study is an absolutely win-win. It speaks to the whole family.

Jenna: Thank you, Tracie. I’m also particularly excited about what the future could hold. I think as the service designer that's been working so closely with the hospitals, I’m really excited around what we’ve learned through this study in terms of reaching families and getting genomic information and options out to them. As you say, it is everybody. I continue to enjoy meeting new hospitals and seeing their kind of innovative take on that and kind of pollinating that back to other trusts so that we can reach as many families as possible and get that equity of access for everybody. I’m also particularly excited that we’re moving into a phase where we’re going to be learning more from the parents themselves that are taking part. 

So, I think we’ll wrap up there. Thank you to our guests Rachel, Tracie for joining me today as we discuss the rollout and impact of the Generation Study at St. Michael’s Hospital in Bristol. If you’d like to hear more about this, please subscribe to Behind the Genes on your favourite podcast app. Thank you for listening. I’ve been your host Jenna Cusworth-Bolger. This podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac.

Dr Nour Elkhateeb: What is a clinical geneticist?

In this explainer episode, we’ve asked Dr Nour Elkhateeb, clinical fellow at Genomics England and clinical geneticist for the NHS, to explain the role of a clinical geneticist.

The previous episode mentioned in the conversation is linked below.

• What is the diagnostic odyssey?

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 a clinical geneticist? My name is Florence Cornish and I'm here with Nour Elkhateeb, clinical geneticist for the NHS and fellow at Genomics England, to find out more.

So, Nour, before we dive into talking about clinical geneticists, could you explain what we mean by the term genetics?

Nour: Hi Florence, so at its heart, genetics is the study of our genes and how they are passed down through families. Think of your genome as a huge, incredibly detailed instruction manual for building and running your body. This manual is written in a specific language, DNA, which is made up of millions of letters arranged in a specific order. 

And here is the interesting part, we all have tiny differences in our genetic spelling, which is what makes each of us unique. 

But sometimes a change in the instructions, a spelling mistake in a critical place, can affect health. Genetics is all about learning to read that manual, understand how changes in it can cause disease, how it's passed down through families and finding ways to help.  

Florence: And so, what kind of thing does a geneticist actually do?

Nour: Well, the term geneticist can cover a few different roles, which often work together. Crudely speaking, you can think of two main types, laboratory geneticists and clinical geneticists.  

Laboratory geneticists are the incredible scientists who work behind the scenes. When we send a blood sample for genomic sequencing, they are the ones who use amazing technology to read the billions of letters in that person's instruction manual. The job is to find the one tiny spelling mistake among those billions of letters that might be causing a health problem. 

Clinical geneticists like me are medical doctors specialised in the field of genetics, and we work face-to-face with patients and families in a hospital or a clinic setting. You can think of us as the bridge between the incredibly complex science of the genomics lab and the real-life health journey of the person in front of them. We diagnose, manage and provide support for individuals and families who are affected by or at risk of genetic conditions. And we translate that complex genetic information into meaningful information for the patient, the family and the other doctors as well. 

Florence: So, let's talk a little bit more about clinical geneticists. What stage of someone's genomics journey are they likely to see you? What are some typical reasons they might get referred, for example? 

Nour: That's a really good question. So, people actually can be seen by clinical geneticists at almost any stage of life, and for many different reasons. Let me give you some examples. 

We see a lot of babies and children. A family may be referred to us if their baby is born with health problems that do not have a clear cause, or if a child is not developing as expected. And sometimes families may have been searching for answers for years, or what we call a diagnostic odyssey, but no one has been able to find a single unifying diagnosis to explain their challenges. And our job is to see if there is a genetic explanation that can connect all the dots. 

Florence: You touched there on the diagnostic odyssey, and I know we don't have time to dive into that right now, but if listeners want to learn more about this, then they can check out our previous Genomics 101 podcast: What is the Diagnostic Odyssey?

So, Nour, we know that you see children and families in their genomics journeys. Do you see adults as well? 

Nour: Yes, indeed. We also see many adults who develop certain health conditions, such as cancer or certain types of heart disease, and their clinicians suspect they might be having an underlying inherited genetic cause, or it could be actually someone who is healthy themselves, but have a family history of a particular condition, and want to understand their own risk or the risk for their children and other family members.

A classic example is in cancer genetics. A woman with breast cancer at a young age, or who has several family members who have also had it, she would be investigated to see if she carries a gene change that increases the risk of breast cancer and other cancers, and finding that actually would be critical for the treatment choices, and it has huge implications for her relatives. 

Also, a major part of our work is in the prenatal setting, so we might see a couple during a pregnancy if the antenatal ultrasound scan, for example, shows that the baby has abnormalities. And the obstetrician might refer them to us to investigate if they have an underlying genetic reason for that. And this can help the couple and the medical team prepare for any challenges after birth and also make informed decisions about the pregnancy.  

And clinical genetics is unique in that we don't see just individual patients, we often work with entire families, and if there is an inherited condition in the family, it's not unusual for several relatives across different generations to be seen by our team. 

This family-wide approach helps us piece together the inheritance pattern and offer the right tests to the right people, and also ensure that everyone who might benefit from information or screening has the opportunity to access that. 

Florence: So if someone has a suspected genetic condition, will they always come to you first? 

Nour: Actually no, the way people come to us is changing. It used to be that you would always see clinical geneticists first, but now with genetic testing becoming more common, other clinicians like a cardiologist, a neurologist, or a paediatrician, might order a genetic test themselves.  

But these tests can produce a huge amount of data, and the results are not always a simple yes or no. Sometimes the lab finds something called a variant of uncertain significance, which means a gene change that we are not certain whether it is the cause of health problems or not. And in these cases, a specialist will refer the patient to us to help put the uncertain result into the context of the patient's specific health problems, and family history, and to help also work out what it really means for them and their family. 

Florence: So, you mentioned a couple of other healthcare professionals there, paediatricians and neurologists for example. Are there any other roles that you work closely with as a clinical geneticist? 

Nour: Well, genetics is never a one-person job, and it's rather like a team sport, so we never work in isolation. We work in what we call a multidisciplinary team,  where clinical geneticists, genetic counsellors, genomic practitioners, scientists and other specialists, all bring our knowledge and expertise together. We also work directly with other specialists across the hospital and the NHS.

Let's say if it's a genetic heart condition, a cardiologist would be a key part of this multidisciplinary team for the patient. And this 360-degree view ensures that we are giving the best possible holistic care.  

Florence: And finally, before we wrap up, I'm sure lots of our listeners may have heard or even come across genetic counsellors. Could you explain how this role is different from a clinical geneticist? 

Nour: So, our role as a clinical geneticist is distinct from that of a genetic counsellor, but we work side by side. Clinical geneticists, as the medical doctors on the team, we're often focused on the diagnosis, and we will perform a physical examination of the patient, looking for subtle clues. We will review their medical history, and piece together the whole medical puzzle. And based on that, we decide which genetic test is the most appropriate, and we'll have the best chance of finding an answer.

A genetic counsellor is a healthcare professional with highly specialised training in both genetics and counselling. They are communication experts, they spend time helping families understand results, process the information, and think through what it means for them and their relatives.

They are incredibly skilled at explaining complex genetic concepts in a way that is easy to understand, and also at providing support. They help families navigate the emotional impact of what can be life-changing news, and also discuss the implications for the wider family. And genetic counsellors are not only there after the diagnosis is made, they can also play an active role in the diagnostic process. 

So in many situations, they are the ones taking the detailed family history, recognising patterns that suggest a genetic condition, and arrange the most appropriate genetic tests. They work closely with laboratory scientists and clinical geneticists to interpret the results and guide the next steps for the patient. 

And a family will often see both of us as our roles complement each other. 

Florence: So, we'll finish there. Thank you so much, Nour, for sharing what you do as a clinical geneticist.  

If you'd like 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. 

Francisco Azuaje, Karim Beguir, Harry Farmer and Dr Rich Scott: How can cross-sector collaborations drive responsible use of AI for genomic innovation?

In this episode of Behind the Genes, we explore how Artificial Intelligence (AI) is being applied in genomics through cross-sector collaborations. Genomics England and InstaDeep are working together on AI and machine learning-related projects to accelerate cancer research and drive more personalised healthcare.

Alongside these scientific advances, our guests also discuss the ethical, societal and policy challenges associated with the use of AI in genomics, including data privacy and genomic discrimination. Our guests ask what responsible deployment of AI in healthcare should look like and how the UK can lead by example.

Our host, Francisco Azuaje, Director of Bioinformatics Genomics England is joined by

• Dr Rich Scott, Chief Executive Officer at Genomics England

• Karim Beguir - Chief Executive Officer at InstaDeep

• Harry Farmer – Senior Researcher at Ada Lovelace Institute

If you enjoyed today’s conversation, please like and share wherever you listen to your podcasts. And for more on AI in genomics, tune in to our earlier episode: Can Artificial Intelligence Accelerate the Impact of Genomics?

"In terms of what AI’s actually doing and what it’s bringing, it’s really just making possible things that we’ve been trying to do in genomics for some time, making these things easier and cheaper and in some cases viable. So really it’s best to see it as an accelerant for genomic science; it doesn’t present any brand-new ethical problems, instead what it’s doing is taking some fairly old ethical challenges and making these things far more urgent."

 

You can download the transcript, or read it below.

 

Francisco: Welcome to Behind the Genes.

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Rich: The key is to deliver what we see at the heart of our mission which is bringing the potential of genomic healthcare to everyone.  We can only do that by working in partnership.  We bring our expertise and those unique capabilities.  It’s about finding it in different ways, in different collaborations, that multiplier effect, and it’s really exciting.  And I think the phase we’re in at the moment in terms of the use of AI in genomics is we’re still really early in that learning curve.

[Music plays]

Francisco: My name is Francisco Azuaje, and I am Director of Bioinformatics at Genomics England.  On today’s episode I am joined by Karim Beguir, CEO of InstaDeep, a pioneering AI company, Harry Farmer, Senior Researcher at the Ada Lovelace Institute, and Rich Scott, CEO of Genomics England.  Today we will explore how Genomics England is collaborating with InstaDeep to harness the power of AI in genomic research.  We will also dive into the critical role of ethical considerations in the development and application of AI technologies for healthcare.  If you’ve enjoyed today’s episode, please like, share on wherever you listen to your podcasts.

[Music plays]

Let’s meet our guests.

Karim: Hi Francisco, it’s a pleasure to be here.  I am the Co-Founder and CEO of InstaDeep and the AI arm of BioNTech Group, and I’m also an AI Researcher.

Harry: I’m Harry Farmer, I’m a Senior Researcher at the Ada Lovelace Institute, which is a think-tank that works on the ethical and the societal implications of AI, data and other emerging digital technologies, and it’s a pleasure to be here.

Rich: Hi, it’s great to be here with such a great panel.  I’m Rich Scott, I’m the CEO of Genomics England.

Francisco: Thank you all for joining us.  I am excited to explore this intersection of AI and genomics with all of you.  To our listeners, if you wish to hear more about AI in genomics, listen to our previous podcast episode, ‘Can Artificial Intelligence Accelerate the Impact of Genomics’, which is linked in this podcast description. Let’s set the stage with what is happening right now, Rich, there have been lots of exciting advances in AI and biomedical research but in genomics it’s far more than just hype, can you walk us through some examples of how AI is actually impacting genomic healthcare research?

Rich: Yeah, so, as you say, Francisco, it is a lot more than hype and it’s really exciting.  I’d also say that we’re just at the beginning of a real wave of change that’s coming.  So while AI is already happening today and driving our thinking, really we’re at the beginning of a process.  So when you think about how genomics could impact healthcare and people’s health in general, what we’re thinking about is genomics potentially playing a routine part in up to half of all healthcare encounters, we think, based on the sorts of differences it could make in different parts of our lives and our health journey.  There are so many different areas where AI, we expect, will help us on that journey.  So thinking about, for example, how we speed up the interpretation of genetic information through to its use and the simple presentation of how to use that in life, in routine healthcare, through to discovery of new biomarkers or classification that might help us identify the best treatment for people. 

Where it’s making a difference already today is actually all of those different points.  So, for example, there’s some really exciting work we’re doing jointly with Karim and team looking at how we might use classification of the DNA sequence of tumours to help identify what type of tumour - a tumour that we don’t know where it’s come from, so what we call a ‘cancer of unknown primary’ - to help in that classification process.  We’re also working with various different people who are interested in classification for treatment and trials, but there’s also lots in between recognising patterns of genomic data together with other complex data.  So we’ve been doing a lot of work bringing image data together with genomic data and other health data so that you can begin to recognise patterns that we couldn’t even dream of.  Doing that hand in hand with thinking about what patients and participants want and expect, how their data is used and how their information is held, bringing it all together and understanding how this works, the evidence that we need before we can decide that a particular approach is one that policymakers, people in healthcare want to use, is all part of the conversation.

Francisco: Thank you, Rich, for speaking of cutting-edge AI applications and InstaDeep.  Karim, could you give us a glimpse into your work and particularly how your technologies are tackling some of the biggest challenges in genomic research?

Karim: Absolutely, and I think what’s exciting is we’ve heard from Rich and, you know, this is like the genomics expertise angle of things and I come from the AI world and so do most of the InstaDeep team.  And really what’s fascinating is this intersection that is being extremely productive at the moment where technologies that have been developed for like multiple AI applications turn out to be extremely useful in understanding genomic sequences. 

This is a little bit, our journey, Francisco.  Back in 2021/2022 we started working on the very intriguing question at the time of could we actually understand better genomic sequences with the emerging technologies of NLP, natural language processing.  And you have to put this in context, this was before even the word ‘generative AI’ was coined, this was before ChatGPT, but we had sort of like an intuition that there was a lot of value in deploying this technology.  And so my team, sort of like a team of passionate experts in research and engineering of AI, we tackled this problem and started working on it and the result of this work was our nucleotide transformer model which we have open sourced today; it’s one of the most downloaded, most popular models in genomics.  And what’s interesting is we observed that simply using the technologies of what we call ‘self-supervised learning’ or ‘unsupervised learning’ could actually help us unlock a lot of patterns.

As we know, most of genomics information is poorly understood and this is a way actually, with using the AI tool, to get some sense of the structure that’s there.

So how do we do this?  We basically mask a few aspects of the sequence and we ask the system to figure them out.  And so this is exactly how you teach a system to learn English, you know, you are teaching it to understand the language of genomics, and, incredibly, this approach when done at scale - and we train a lot on the NVIDIA Cambridge-1 supercomputer – allows you to have results and performances that are matching multiple specialised models.  So until then genomics and use of machine learning for genomics was for a particular task, I would have developed a specific model using mostly supervised learning, which is, I am showing you a few examples, and then channelled these examples and tried to match that, and so essentially you had one model per task.  What’s really revolutionary in this new paradigm of AI is that you have a single model trained at very largescale, the AI starts to understand the patterns, and this means that very concretely we can work with our partners to uncover fascinating relationships that were previously poorly understood.  And so there is a wealth of potential that we are exploring together and it’s a very exciting time.

Francisco: What you’re describing really highlights both the potential and the opportunities but also the responsibility we have with these powerful tools, its power, and this brings up some important ethical considerations.  And we have Harry…  Harry, we have talked about ethics frameworks in research for decades but AI seems to be rewriting the rulebook.  For your work at the Ada Lovelace Institute what makes AI fundamentally different from previous technologies when it comes to ethical considerations and how does this reshape our approach to ensuring these powerful tools benefit society as a whole?

Harry: So I think when you are considering these sorts of ethical questions and these sorts of ethical challenges posed by AI and genomics it really depends on the sort of deployment that you’re looking at.  From the conversation we’ve had so far, I think what’s been hinted at is some of the diversity of applications that you might be using AI for within the context of genomics and healthcare.  So I think there’s obviously big advances that have been alluded to in things like drug discovery, in things like cancer and cancer diagnosis, also these advances around gene editing, all of which have been on steroids, by artificial intelligence and particularly machine learning and deep learning.

The area that we have been looking at at the Ada Lovelace Institute, and this was a project that we were doing in collaboration with the NCOB, the Nuffield Council on Bioethics, was looking at what we were calling ‘AI-powered genomic health prediction’, which is very related to a technique called ‘polygenic scoring’, for those who might be interested.  And that’s looking at the emerging ability to make predictions about people’s future health on the basis of their DNA, and it was thinking about what that ability might mean for UK society and also for how we are thinking about and delivering healthcare in the UK.

Now, thinking about what the ethical challenges might be for that, I think you need to think about what specifically AI is bringing to that technique, so what it’s bringing to genomic health prediction.  I think with some of the other deployments, the list of things that AI is bringing is quite similar, so it’s helping with data collection and processing, so speeding up and automating data collection and preparation processes that otherwise are quite slow and very labour-intensive.  AI’s also helping with the analysis of genomic and phenotype data, so helping us to understand the associations between different genomic variations and between observable traits, and this is something which without AI can often be prohibitively complex to do, and it’s also sometimes suggested that on the deployment end AI can be a tool that can help us use genomic insight in healthcare more widely.  So one example of this might be using an AI chat bot to explain to a patient the results of a genomic test.  That’s something that’s only been mooted and I don’t think there are current examples of that at the moment but that’s one of the downstream applications of AI in the context of genomics.

So in terms of what AI’s actually doing and what it’s bringing, it’s really just making possible things that we’ve been trying to do in genomics for some time, making these things easier and cheaper and in some cases viable.  So really it’s best to see it as an accelerant for genomic science; it doesn’t present any brand-new ethical problems, instead what it’s doing is taking some fairly old ethical challenges and making these things far more urgent.  So in terms of what those problems actually are, some of the big ones will be around privacy and surveillance, genomic health predictions produce a lot of intimate sensitive data about people and generating those insights requires the collection and the storage and the processing of a lot of very sensitive data as well.  We also have issues related to privacy around genomic discrimination, so this is the worry that people will be treated differently and in some cases unfairly on the basis of health predictions made about them.  And one of the really typical examples here is the worry that people might face higher insurance costs if they’re found through genomic testing to be more likely to develop particular diseases over their life course.

And then you also have a bunch of issues and questions which are more structural, so these are questions about how the availability of this kind of insight into people’s future health might change or put pressure on existing ways of thinking about health and thinking about healthcare and some extreme cases thinking about the social contract.  So these are questions like does the viability of genomic health prediction lead to a radically more preventative approach to healthcare and what might this mean for what the state demands of you as a user of healthcare and as a recipient of that.  And there are also some important questions about the practicalities of delivering genomic medicine in the NHS, so questions like how does the NHS retain control and sovereignty over genomic analysis and data capacities, how do we test their efficacy at a public health level, and also – and this is something that we might talk about a bit later – what’s the best deployment model for these capacities.  So that’s some of the ethical and I think policy challenges that we need to be dealing with in this space.

Francisco: Thank you, Harry.  And those principles you have outlined provide a solid foundation for discussing different types of applications.

[Music plays]

Let’s talk about the InstaDeep and Genomics England partnership that is investigating the application of InstaDeep’s powerful foundation model, the nucleotide transformer, and other cutting edge techniques to address several challenges in cancer research.  I have the privilege of working closely with this partnership and the potential here is immense.  Karim, could you break down for our listeners what you are working on together and what innovations you are aiming for?

Karim: Absolutely, Francisco.  Actually, we are very excited by the collaboration with Genomics England.  Genomics England not only has one of the best data assets in the world when it comes to genomics, like a very well curated dataset but also a wealth of expertise on these topics, and on my side the InstaDeep team brings fundamental knowhow of machine learning models but also, as you mentioned, like powerful developed models already, such as our nucleotide transformer and others. 

The culture of InstaDeep has always been to build AI that benefits everyone – this is literally in our mission – and so in particular, specifically on like current topics, really like the goal is to try to identify partners between genomic sequences of patients and the particular phenotypes or approaches.  And one of the key projects, which I mentioned that, is the one of cancer of unknown primary origin.  So when you have situations where you are not sure where a particular cancer emerged from it is critical to be able to extract this information to have the best potential care, and this is actually something where understanding of genomic sequences can bring this capability.  And so we’ve been getting some successful results in the collaboration but in many ways this is just the beginning.  What we are seeing is a great wealth of possibilities linking genotypes, so the information which is on the sequences themselves, the genomic sequences, and phenotypes, like the particular state of the patient, and the fact that the Genomics England team has those joint datasets creates incredible opportunities.  So we are looking at this really like identifying together what are the most useful ‘low-hanging fruits’, if you want, in terms of like potentially improving a patient’s care and moving forward from that.

Francisco: And this collaborative approach you are describing raises questions about accelerating innovation in general.  When two organisations like Genomics England and InstaDeep come together it’s like a multiplier effect in terms of expertise, data, and other resources.  Could you both share how this partnership is accelerating discoveries that might have taken years?

Rich: Yeah, I mean, I think this…  Francisco, you frame it really nicely because this is what makes it so exciting to be in our position at Genomics England because what we do is we bring the particular understanding and expertise, digital infrastructure and custodianship of the National Genomic Research Library together, but actually the key is bringing the potential of genomic healthcare to everyone.  We can only do that by working in partnership, we bring our expertise and those capabilities.  And, as you say, it’s about finding it in different ways, in different collaborations, that multiplier effect, and it’s really exciting.  And I think the phase we’re in at the moment in terms of the use of AI in genomics is we’re still really early in that learning curve. 

And so, as you’ve heard already through what Karim and I have said and also what Harry has said, there are multiple different aspects that we need to look at together, bringing different angles and understandings, and we see ourselves…  We often describe ourselves as a ‘data and evidence engine’, that final word ‘evidence’ is really important and it comes in the round.  So Harry really eloquently talked about a number of different considerations from an ethical perspective that need to be there.  What we need if we’re going to move genomics forwards in terms of its potential to make a difference for people’s lives, we need evidence around clinical efficacy of different approaches, that’s absolutely a given and everyone always jumps at…  so it’s almost first in line.  We need understanding about the health economics, you know, how much difference does it make for a particular investment, is it worth that investment.  Critically, it also is founded on, you know, how you might use this technology in different ways, how you use it in clinical pathways, you know, is it something that actually is addressing the particular questions which really hold back the delivery of better care.  Also in that evidence piece is an understanding of patients’ and participants’ expectations on how their data might be used, their expectations on privacy, the expectations that we have on understanding how equitable the use of a particular approach might be, or at least our understanding of how confident we are about the equity of the impact, and it’s bringing together those different perspectives.  And that’s one of the things that helps us construct the team at Genomics England so we have the expertise to help others access the data in the National Genomic Research Library for purposes our participants support but also help generate that sort of rounded package of evidence that will end up moving the dial.  So that it’s not just about proving a cool widget, because that’s great on its own, what drives Karim and the team is to make a difference in terms of outcomes, and that’s exactly what drives us and our participants too.

Francisco: And this and other partnership approaches brings up important questions about responsible innovation, and this naturally leads us to the next question for Harry, how do we harness these powerful tools when protecting our communities?

Harry: Yeah, so if we are thinking about over-surveillance and the ways that vulnerable groups might be affected by the use of genomics and healthcare, I think we’re talking about at least two different things here.  So one problems around the representativeness of data is it does lead to issues which you could classify as issues of differential accuracy.  So in the context of genomic prediction what you have is genomic predictive tools being more accurate for white Europeans and those with white European ancestry compared to other population groups.  And this is a product of the fact that genomic datasets and genomic predictions, the terminologies don’t port well between different populations, which means if you train a genomic predictive tool on a bunch of people with white European ancestry the predictions you might make using that tool for other groups won’t be as accurate as for the white Europeans.  And this can be actively harmful and dangerous for those in underrepresented groups because you are making predictions about people which just won’t have the accuracy that you would expect in the context that you were deploying it.

And I already mentioned this a bit in my previous answer, you have worries about discrimination, and there are a few different things here.  So with some historically marginalised groups and marginalised groups now there are longstanding historical sensitivities about being experimented on, about particular fears about eugenics and about being categorised in particular ways.  And it’s worth saying here that there is obviously a racial dimension to this worry but I think there’s also a class dimension, by which I mean you’re far more vulnerable to being categorised unfavourably if you’re poor or if you don’t have a particular kind of status within society.  There is also within discrimination the idea that genomics might be used to explain away differences between different groups which in fact have a political or an economic basis.  So one example of this was during the COVID-19 pandemic, there were attempts by some commentators to explain away the fact that non-white communities had worse rates of mortality from COVID to try and attribute a genetic or a genomic basis to those differences rather than looking at some of the socioeconomic factors behind that.  So those are some worries as well.

Now, when it comes to protecting particular groups I think there are a few things that can be done fairly straightforwardly.  So, one is work to improve the diversity and the representativeness of datasets.  Obviously, that’s easier said than done, though it’s a very clear thing that we can aspire towards and there is good work, I’m aware, that is going on in this space, some of which is being spearheaded by Genomics England, amongst other groups.  Another is just being very careful about how the results of population level genomic studies are communicated to avoid giving that impression of explaining away differences between different groups simply as things determined by genomics about which we can do nothing rather than things which have historical or socioeconomic bases.  But I also think the broader lesson is that some of these harms and these forms of discrimination are things that could theoretically affect anyone; they’re not just limited to affecting marginalised groups.

Genomic health predicting can produce bases for all of us to be discriminated against, things that have nothing to do with our race, our class, our sex or any other protected characteristic.  So I think there has to be thinking about how we establish or sure up more universal protections against genomic discrimination.  One thing that we can do here is simply stronger data protection law, and one of the things that we talk about in some of our reports is that how data protection law as it stands could do with being less ambiguous when it comes to how it treats genomic data and phenotype data produced as a result of genomic analysis.

[Music plays]

Francisco: Harry, you are in a unique position at the Ada Lovelace Institute where you bridge this gap between AI developers, researchers, policymakers and the public.  Your recent report on AI in genomics with the Nuffield Council on Bioethics offers an important blueprint for responsible AI innovation in general, so based on this cross-sector perspective, what guiding principles do we need to embrace as we navigate this intersection of AI and genomics?

Harry: So I think in addition to the specific recommendations we set out in the final report of that work - which is called ‘Predicting the Future of Health’ and which you can find on our website and also on the NCOB website – I think one of the biggest messages was the importance of finding a deployment model for genomic health prediction that respects that technology’s strengths, what it can actually do, because there are limitations to this technology, and also which avoids circumstances in which the associated risks are difficult to deal with.  So another way of putting this is that we need a deployment model that, as well as making sure that we’re ready to cope with the risks of genomic health prediction, the things like law, regulation and governance also proactively tries to design out some of those risks and finds ways of deploying this technology such that those risks don’t present themselves in either as extreme a manner or don’t present themselves in ways which makes them difficult to deal with.

So one question that we posed in our research was whether some ways of integrating genomic health prediction may present more challenges regarding privacy, discrimination and then these other challenges that we’d identified around dependency and fragility and others. And having looked at some of the different broad approaches to using genomic health prediction within the NHS and within the UK’s health system, we found that one presented by far fewest of the risks identified above, while still presenting some of the most certain benefits of genomic health prediction.  And this was using it really primarily as a targeted diagnostic tool - and this is a vision in which the NHS uses genomic health prediction quite sparingly in the first instance - and in situations to improve treatment and outcomes for those who are seriously ill or who have been identified as needing to take particular precautions regarding their health.  We think the more situational vision has a few advantages.  So one, is it allows patient and people using the health service to retain greater control over data.  We think that can also have a positive knock-on effect for worries about discrimination.  And here what you have is the absence of those pressures to share your data.  It means that it’s easier for you as the user of the healthcare system to resist genomic discrimination simply by keeping your data private.  And there are some cases where that option… it shouldn’t be the only option but where that option is really important.

And then also one of the features of this vision is that the smaller scale of the use of genomic health prediction, presumed, can make outsourcing to third parties, which the NHS is probably likely to need to do in some cases.  It’s also a vision, I think, that overall allows you to capture some of the more certain benefits to genomic health prediction which are about improvements to accuracy in predictions about people’s future health at the margin, and therefore this is a deployment of this technology which is deploying it principally to people who will benefit and we know will benefit from marginal improvements in accuracy to predictions made about their future health rather than wanting to deploy those marginal improvements to the vast majority of the population where the benefit is less certain.  So this is a vision we hope sets out a way of getting some of the more certain benefits of this technology while minimising some of those broader more systemic risks.

Francisco: Thank you, Harry.  Karim?

Karim: Totally agree with Harry about the need for smart regulation in the field so that we make sure we have good uses of the technology but avoid the potential pitfalls.  I wanted to emphasise two points which I believe are important.  First, we are really in a fast-moving situation when we look at like AI progress.  We have seen incredible improvements over the last ten years and in particular what we call ‘artificial general intelligence’, which is essentially systems that are matching human cognitive abilities, are now around the corner.  This might sound surprising but literally the last obstacles to reach AGI are being solved right now, and this means that in the next 12-24 months you will have systems that are incredibly capable.  So this emphasises the need for the type of measures and type of smart approach that Harry has described.  And I would say when you look at the intersection of AI and genomics this is a particularly important one and why it’s the case, because so far in genomics our obstacle has not been data, it has been interpretation of a flood of data.  The progress that AI is making, like I just described now, means that very soon extraordinary capabilities will be available to improve patients’ outcomes.  I want to inject a sense of how important is our conversation today, given what is happening, an exponential progress in AI, exponentially growing data in genomics and relatively exponential potential to build the technology for good.  But, like in other fields, we see that AI is an extremely powerful technology and we need to make sure it is used for good in fact and this is why the conversation that we have today is so important.

Harry: Obviously I agree with the conclusion to all of this, is that we need to think very hard about the way that artificial intelligence and its deployment in healthcare and also just in many different walks of life is going to be affecting the way we think about public service delivery, affecting the way that we think about scientific development.  It’s worth noting, though, that I think one of the biggest challenges from a policy perspective on artificial intelligence is being able to distinguish the wheat from the chaff.  There are obviously areas where AI has made huge and incredibly impressive progress over the past few years and where we reasonably expect that to continue over the next few years, but there are also areas where some of the stories being told about the capabilities of future systems probably won’t be matched by the reality, but there is I think a really big and very live debate about exactly what we can reasonably expect from these technologies and therefore what the deployments of them are.

Francisco: Thank you.  We are approaching the end of the episode and I’d like to conclude with a couple of questions.  Genomics England has built quite an ecosystem of industry partnerships, how do collaborations like the one with InstaDeep fit into your broader mission for the company?

Rich: So linking this to the conversation that we’ve just been having, which is AI is making a real difference in terms of technologies that we can test, we can develop evidence on, and that is rightly creating excitement, I think our approach…  The expectation of our participants is that our role is to sit there and help people develop evidence and you can make judgments on policy based on those and that is what will drive adoption.  I think the thing that really excites me for the UK, most particularly in genomics, is our ability to be the place in the world where you can come with a new technology, whether it’s genomic sequencing technology, whether it’s a genomic AI approach to train that to develop evidence on its efficacy, and, if it’s proven to be effective to be worth the bang for the buck to perform to the expectations that patients, the public, would have of it in terms of equity and so forth also to deploy it.  I think there is a real reason for excitement around that and it’s a real opportunity that the government has highlighted and that we absolutely buy into that the UK can be the best place to do that for academics and for industry.  And our participants see real opportunity and are eager for that work to be done so that we have the evidence on which to decide what should be deployed and where.  We see opportunities in all sorts of different areas, so certainly in terms of drug discovery and all the way through to simplifying tasks which at the moment just limit the rate at which the existing uses of genomics in healthcare can happen.

So I think there’s opportunities across the whole length, if you like, the sort of end to end, and the breadth of opportunity, and industry, companies like InstaDeep and others that we work with, are really crucial to that.  And what we do is think about the digital infrastructure we need to, you know, have those teams able to interact with within the National Genomic Research Library carrying out their approved research projects.  Also what support they need, and that comes in different shapes and sizes, depending on the ask and also the company.  So sometimes sort of leaning in more, particularly at the start of programmes, to help people shape the question, working with our participants, thinking about the wider evidence that you might need, for example, those sort of things that Harry’s touched on, but also thinking about what hands-on support companies need, because not every company is anywhere close to Karim and InstaDeep’s expertise.  Sometimes this is also about supporting people to have some of those tools that they don’t have or some of the knowhow that’s very specific to areas of genomics, so it’s absolutely crucial to it.  And I think that point of the UK being the place to come and develop that evidence in its full breadth so that policy decisions can be made not based on hype but on evidence in the round, on what will make a difference.

Francisco: And, Karim, looking ahead, also in retrospect, what have been your key learnings about making this cross-sector partnership work?

Karim: We live in an extraordinary time and I want to emphasise the potential of scientific discovery in the next two or three years.  AI is going to move from, let’s say, digital style, you know, technologies like coding and maths towards more like science and biology.  In particular, genomics is going to be a fascinating area in terms of potential, and I agree with Rich and Harry, it’s all in the end about proving on the ground the potential of those capabilities.  And at InstaDeep we are passionate about the tech – I think you might have felt that – but we’re also passionate about the applications.  The best results come when you bring expertise from multiple domains; machine learning and AI experts will require the expertise of genomic experts, biologists, healthcare practitioners, to be able to translate the potential of those technologies in concrete outcomes.  And we’ve seen this on multiple successful projects we’ve done with Genomics England but really this suggests that we are going to have in the next 3-5 years way more progress than we had in the last five and really my wish is that collectively we seize this opportunity and we do it in a responsible and thoughtful manner.

[Music plays]

Francisco: We’ll wrap up there.  Thank you to our guests, Karim Beguir, Harry Farmer and Rich Scott, for joining me today as we discuss the role of AI in genomics research.  If you wish to hear more like this, please subscribe to Behind the Genes on your favourite podcast app.  Thank you for listening.  I have been your host, Francisco Azuaje.  This podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand.

[Music plays]

 

 

Dr Harriet Etheredge, Gordon Bedford, Suzalee Blair-Gordon and Suzannah Kinsella: How do people feel about using genomic data to guide health across a lifetime?

In this episode of Behind the Genes, we explore the hopes, concerns and complex questions raised by the idea of a lifetime genome — a single genomic record used across a person’s life to guide healthcare decisions. Drawing on conversations from Genomics England’s Public Standing Group on the lifetime genome, our guests explore what it might mean for individuals, families and society to have their genome stored from birth, and how it could transform healthcare.

The discussion reflects on the potential for earlier diagnoses, better treatments and long-term prevention, alongside pressing ethical concerns such as data security, consent, and the impact on family dynamics. Participants share their views and discuss the future role of genomic data in medicine, with insights into how trust, equity and public dialogue must shape this evolving field.

Our host for this episode, Dr Harriet Etheredge, is joined by Suzalee Blair-Gordon and Gordon Bedford, two members of the Genomics England’s Public Standing Group on the lifetime genome, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that helped to facilitate this work. Together, they consider the broader societal implications of lifetime genomic data, and how public involvement can help guide policy and practice in the UK and beyond.

This conversation is part of our ongoing work through the Generation Study, exploring how genomics can be used responsibly and meaningfully from birth onwards. You can listen to some of our Generation Study episodes by following the links below.

• What can we learn from the Generation Study?
• How has design research shaped the Generation Study?
• What do parents want to know about the Generation Study?

 

"This isn’t just a science project, it’s about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction."

 

You can download the transcript, or read it below.

Harriet: Welcome to Behind the Genes.

Suzalee: I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms. 

Harriet: My name is Harriet Etheredge, and I am the Ethics Lead on the Newborn Genomes Programme here at Genomic England. On today’s episode I’m joined by 3 really special guests, Suzalee Blair and Gordon Bedford, who are members of Genomics England’s Public Standing Group on Lifetime Genomes, and Suzannah Kinsella, Senior Associate at Hopkins Van Mil, a social sciences research agency that has helped us to facilitate this work. 

Today we’ll be discussing the concept of the lifetime genome. What do we mean when we say, ‘lifetime genome’? How can we realise the promise of the lifetime genome to benefit people’s healthcare whilst at the same time really appreciating and understanding the very real risks associated? How do we collectively navigate ethical issues emerging at this genomic frontier?

If you enjoy today’s episode, we would really love your support. Please share, like and give us a 5-star rating wherever you listen to your podcasts. And if there’s a guest that you’d love to hear on a future episode of Behind the Genes, please contact us on podcast@genomicsengland.co.uk.

Let’s get on with the show. I’ll start off by asking our guests to please introduce yourselves.  Suzalee, over to you. 

Suzalee: Thanks, Harriet. So I am a proud mum of two kids, teacher of computing at one of the best academic trusts in the UK, and I am also a sickler, and for those who don’t know what that means, I am living with sickle cell disease. 

Harriet: Thank you so much, Suzalee. Gordon, over to you. 

Gordon: I’m Gordon Bedford, I’m a pharmacist based in The Midlands. I’ve worked in hospital and community pharmacy. I have a genetic condition, which I won’t disclose on the podcast but that was my sort of position coming into this as I’m not a parent of children, but it was coming in from my perspective as a pharmacist professional and as a member of society as well. 

Harriet: Thank you so much, Gordon. And, last but certainly not least, Suzannah. 

Suzannah: So, yes, Suzannah Kinsella. I am a social researcher at Hopkins Van Mil, and I had the pleasure of facilitating all of the workshops where we gathered together the Public Standing Group and working on reporting the outcome from our discussions, so delighted to be coming in from South London.

Harriet: Thank you so much, everyone, and it’s such a pleasure to have you here today. So, many regular listeners to Behind the Genes will now that Genomics England is currently undertaking the Generation Study. I’m not going to speak about it in much detail because the Generation Study has already been the subject of several Behind the Genes podcasts and we’ll put some links to these in the show notes for this episode. But briefly, the Generation Study aims to analyse whole genomes of 100,000 newborn babies across England, looking for 250 rare conditions. We have a view to getting these children onto treatments earlier and potentially enhancing their lives. 

The Generation Study is a research project because we don’t know if the application of this technology will work. And as a research project we can also answer other important questions, such as questions about a lifetime genome. When we invite parents to consent to the Generation Study on behalf of their newborn babies, we ask to store babies’ genomic data and linked healthcare data in our trusted research environment.  This helps us to further research into genes and health.

But a critical question is ‘what do we do with these data long term?’ And one of the potential long-term uses of the data is to revisit it and re-analyse it over a person’s lifetime.  We could do this at critical transition points in life, like adolescence, early adulthood or older age, with the aim of using the genomic data to really enhance people’s health. But this is a very new concept. There’s been little work on it internationally, however I am pleased to say that interest seems to be picking up.

In the Generation Study, whilst we are at the present time doing no lifetime genomes work, we are looking to explore the benefits, risks and potential uses of the lifetime genome.  This Public Standing Group on lifetime genomes was our first foray into this area.  So, I’d like to start off by inviting Suzannah to please explain a bit more about what the Public Standing Group is, why it was created and how a group like this helps us to generate early deliberation and insight. 

Suzannah: So, the first thing I should talk about is who were these 26 people that formed part of this group, and the first thing to say is that they were a wide range of ages and backgrounds from across England, so some from Newcastle, some from London and everywhere in between. And these 26 people all had one thing in common, which is they had all taken part in a previous Genomics England public dialogue, either the whole genome sequencing for newborn screening which took place in 2021, or in a more recent one in about 2022/23 which was looking at what should Genomics England think about in terms of research access to data that’s drawn from the Generation Study.

So, the great thing was that everybody had already some previous knowledge around genomics, but the concept of a lifetime genome was completely new. So these 26 people met on 5 occasions over the period of 2024, mostly meeting face to face, and really the task that they were given was to look at the lifetime genome and look at it from every angle; consent, use, information sharing and all sorts of other aspects as well.

Harriet: Gordon and Suzalee, you were participants in our Public Standing Group, I’d love to hear from you what your roles in the Standing Group were and what you found most interesting, but also for you which bits were the most challenging. Suzalee, shall we start with you?

Suzalee: For me the most interesting bits were being able to learn about one’s genome and, through Genomics England and their possible use of pharmacogenetics, could determine the specific medication that could be prescribed for a new health condition instead of expensive and possibly tonnes of adverse side effects trial and error medications.

Additionally, as a person living with sickle cell disease, I got the chance to share my story and to give voice to people living with the same condition or similar to myself, and how the potential of the genomics newborn programme could help our future generation.

There were some tricky bits, and the most challenging bit was to initially discuss and think about the idea of whether or not a parent might choose to know or not to know the potential of their newborn developing or prone to develop a certain condition based on the data received from the programme. My thought went back to when I gave birth to my first child 16 years ago and I was adamant to know if my child would inherit the sickle cell disease, what type, if it would be the trait. In my mind I knew the result, as my haemoglobin is SC and their dad is normal, but I wanted to be sure of my child’s specific trait. But then I asked myself, “What if my child was part of the Newborn Genomes Programme, then the possibility exists that other health conditions could be detected through the deep analysis of my child’s genome. Would I really want to know then? What would be the psychological effect or, in some cases, the social impact of what I have to learn?”

Harriet: Thank you so much, Suzalee. And I think it’s just wonderful to hear about the personal impacts that this kind of work can have and thank you for bringing that to us.  Gordon, I’ll hand over to you. I’d be really interested in your thoughts on this.

Gordon: So my role in the Public Standing Group was to give my section of society my experiences in life to bring them together with other people, so experiences like Suzalee and the 24 other people that joined us on the study, to bring our opinions together, to bring our wide knowledge and group experiences of life. And it’s important to have a wide group, because it forces us to wrestle with differences of opinion. Not everybody thinks like I do.  As a pharmacist, I can see the practical side of genomics, like pharmacogenomics, where we could use a baby’s genome to predict how they’ll respond to drugs over their lifetime. That’s a game-changer for avoiding adverse reactions or ineffective treatments, but not everybody’s sold on it.

Some in our group worried about privacy, who gets this data, or ethics, like whether it’s fair to sequence a baby who can’t say yes or no. I get that. I don’t have children, but I hear those things clearly. The most interesting bits for me, the pharmacogenomics discussion in meeting two stood out, everyone could see the tangible benefits of tailoring medicines to a person’s genome, making treatments more effective, and in Meeting 5 designing our own lifetime genome resource was also fascinating. Ideas like it for public health research showed how far-reaching this could be. Some of the challenging sides of things that I came across, the toughest part was grappling with unknowns in Meeting 4, like how to share genetic info with your family without damaging relationships. Those risks felt real, and it was hard to balance them against the benefits, especially when trust from groups like minority ethnic communities is at stake.

Harriet: Thank you so much, Gordon. I think from you and Suzalee it’s so fascinating to hear how you were grappling, I think, with some of your personal and professional feelings about this and your deeply-held personal views and bringing those first of all out into the open, which is something that is very brave and we really respect and admire you doing that, and also then understanding that people do hold very different views about these issues. And that’s why bring these issues to an engagement forum because it’s important for us to hear those views and to really understand how people are considering these really tricky ethical issues.

So, Suzalee, I’m wondering from your perspective how do you feel we can really be respectful towards other people’s points of view?

Suzalee: Yes, Harriet. In spite of the fact that we had different viewpoints on some topics discussed, every member, researcher, presenter and guests were respectful of each other’s point of view. We all listened to each other with keen eyes, or sometime squinted eyes, with a hand on the chin which showed that what was being said was being processed or interpreted. All our views were recorded by our researchers for further discussion and analysis, therefore I felt heard, and I believe we all felt heard. 

Harriet: Do you have any examples that you can recall from the groups where there were differing points of view and how we navigated those?

Gordon: Where we had screening at age 5, but we agreed on an opt-out model, because it could help spot issues early. But some worried - psychological impacts, knowing too much too soon. But we looked at an opt-out model rather than an opt-in model because it’s easier to say to somebody, “If you don’t want to continue with this, opt out” rather than trying to get everybody opting in at every different age range. So, as we reach the age of 5, 10, 15, 20, whatever, it’s easier to get people to opt out if they no longer want to be part of that rather than trying to get them to opt in at each stage throughout their life.

Harriet: Suzannah, do you have anything to add there as a facilitator? How did you feel about bringing these different points of view together?

Suzannah: Yeah, you asked about where are the tensions, where do people maybe agree a bit less or agree and hold different views, and I think what stands out is particularly…  There was an idea floated by one of the speakers about you could have your DNA data on an NHS app and then, let’s say if you’re in an emergency, a paramedic could have access to it or others. And that really I think brought out quite a wide range of perspectives of some in the group feeling, “You know what, anyone who has an interest, anyone that can help my health, let them have access to it as and when, completely fine,” and others took a more cautious approach saying, “This is my DNA, this is who I am, this is unique to me, my goodness, if someone, some rogue agent manages to crash the system and get hold if it goodness knows what nightmare scenario it could result in,” and so had a much more keep it locked down, keep it very limited approach to having access to your lifetime genome data and so on. So that was a really interesting example of people going, “Yep, make it free” and others going, “No, just for very specific NHS roles,” which I thought was fascinating.

Harriet: Yeah, thank you so much, Suzannah. And I think it’s a real tangible challenge that those of us working in this area are trying to grapple with, is finding the middle ground here with all of the challenges that this involves, for instance, our data infrastructure and the locations at which data are held.

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Harriet: I think this brings us really nicely onto looking at some of the ethical, legal and social issues that we need to think through when we’re considering the lifetime genome.  I’m wondering if we can expand on some of these and the importance of addressing them. Gordon, would you like to give us your thoughts?

Gordon: Sure, thank you. Our job was to dig into how a baby’s genome could be used over the lifetime, think pharmacogenetics for better drugs, early childhood screening for conditions or carrier testing to inform family planning. We saw huge potential for individual health like catching diseases early, but also broader impacts like reducing NHS costs through prevention. Weighing the risks and benefits. The benefits like earlier diagnosis or research breakthroughs grew clearer over time with ratings rising from 4.1 to 4.7 - that’s out of, I believe, a figure of 5, but risks like data breaches and family tensions over shared genetics stayed significant. We agreed the benefits could outweigh the risks but only with mitigations like transparent governance and strong security. And what are the global implications moving forward? What we discussed isn’t just for the UK, it’s feeding into the global conversation about newborns in genomic research. That responsibility made us think hard about equity, access, and how to build public trust.

Harriet: Thank you, Gordon, I think there’s so much there to unpack. And one point I think in particular that you’ve mentioned, and this came out really strongly as one of our main findings from these groups, was the way that a lifetime genome and the way that we might deliver that information could really impact family dynamics in ways that we might not have really thought of before or in ways that we really have to unpack further. And, Suzalee, I’d love to hear from you about this, how might diverse family dynamics need to be considered?

Suzalee: Harriet, as it relates to diverse family dynamics a burning legal issue, which is then triangulated into being considered an ethical issue as well as a social issue, was the question can siblings of sperm donors be informed of life-threatening genomic discoveries? Whose responsibility is it? Will policies now have to be changed or implemented by donor banks to take into consideration the possibility of families being part of the new genomes programme?

Harriet: Yeah, thank you, Suzalee. I think there’s so much there that we have to unpack and in the Generation Study we’re starting to look at some of those questions, but going forward into potential risks, benefits and uses of the lifetime genome, all of these new technologies around human reproduction are things that we’re going to have to consider really, really carefully through an ethical and legal lens. Suzannah, I wondered if you have anything to add to these as major ethical issues that came out in these groups.

Suzannah: I think, as you say, people were so fascinated by the idea of this information landing in a family, and where do you stop? Do you stop at your siblings, your direct family, the brothers and sisters of a child?  Do you go to the cousins?  Do you go to the second cousins?  It’s this idea of where does family stop. And then people were really interested in thinking about who does the telling, whose job is it? And we had this fascinating conversation – I think it was in Workshop 3 – where this very stark fact was shared, which is the NHS doesn’t know who your mother or your father or your siblings are; your NHS records are not linked in that way.

And so that presented people with this challenge or concern that “Actually, if I get quite a serious genetic condition diagnosed in my family whose job is it to share that information, what support is there to do that and how far do we go?”  So, I think people were really fascinated and hopeful that Genomics England will really be at the vanguard of saying, “How do we as we move into an era of more genetic data being used in our healthcare, how’s that managed and how’s it shared?”

Harriet: Yeah, thank you so much, Suzannah. So I think that what’s coming out through everything that you’re all saying is the huge breadth of issues that came up here. And of course we’re seeing, very encouragingly, so many nods to the potential benefits, especially around things like pharmacogenomics, but we are seeing some risks.  Gordon, I wondered if you’d like to elaborate a bit further.

Gordon: So, something that came up, and it divided the group quite considerably, carrier status divided us. Some saw it as reducing disease prevalence and others feared it could fuel anxiety or stigma amongst the family or other families. It showed how personal these choices are and why families need control over what they learn.

Harriet: Yeah, it’s a very good point, and carrier status is something that could be a conceivable use of our lifetime genome record. Suzannah?

Suzannah: Just building off what Gordon was talking about, I remember there were also discussions around are we getting into a state where this is about eradication of so many different conditions, and actually how does that sit with a society that is more embracing, accommodating and supportive of people with different health needs. So, I think that was quite a big ethical discussion that was had, is, and particularly where we think about what we screen for in the future over time and so forth, people really being conscious that “Actually, where are we going with this? Are we risking demonising certain conditions and saying we don’t want them on the planet anymore and what are the consequences of that?”

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Harriet: And I think came to a point in our final meeting where we were asking our participants, so Suzalee and Gordon and everybody else in the room, whether you might consider having a lifetime genome for yourself and what that would look like. We’d love to share your views about that, and Suzalee, I’m wondering if you can share your thoughts on that with us first.

Suzalee: Definitely. I would wholeheartedly be interested in the lifetime genome programme if it was offered to me right now. I believe that the pros for me are phenomenal. I have come to terms with the thought that life is unpredictable and I have already begun to accept any health condition that comes my way. Believe you me, I have been through the stage of denial, and yes, I have frozen upon hearing health diagnoses in the past but now I believe that I am a bit wiser to accept the things that I cannot change and to prepare to face the symptoms of whatever illness I am to be dealt with or to be dealt to me. If the analysis of my genome can help me to prepare, then yes, I am going to welcome this programme with open arms.

Harriet: Thank you, Suzalee. And, Gordon, how did you feel about it?

Gordon: Being part of the group showed me how genomics is both thrilling and daunting.  I’d lean towards ‘yes’ for a lifetime genome resource for the chance to detect conditions early, but I get why some people may say ‘no’ over the data fears or ethical lines. This isn’t just a science project, it’s about designing a future where everyone feels included and protected. We need more voices, parents, young people, underrepresented communities, to keep shaping it in the right direction. Laws would have to be enacted regarding the storage, use and availability of genetic data. We haven’t yet seen as well, how AI’s complete benefits in medicine will develop over time.

Harriet: Thank you so much, Gordon and Suzalee, for sharing that. And, Suzannah, I know that at the end of the Public Standing Group we generally asked all of our participants whether they would choose to have a lifetime genome, the same sort of question I’ve just asked Suzalee and Gordon. I wondered if you could just briefly give us an overall sense of how the Public Standing Group participants felt about that.

Suzannah: Yes, so it’s interesting to see that actually not everyone said, despite spending a year or almost a year discussing this, not everyone said, “Sign me up,” 6 said, “No” or “Maybe.” And the reasons they gave, this idea, “Well, all this data, could a government sell it off?  What guarantees have we got?”  So that was a reason. Somewhat of a concern also about breaches but also this idea of “What do I really want to know? Do I want to have a lifetime resource that can tell me what’s going to happen next in my health?” and some say, “Let me deal with it when the symptoms start coming and that’s the way I want to handle it.”  So, yeah, about 20 said, “I’d be really interested,” similar to Suzalee and Gordon, 6 on the fence or firmly, “No thanks.”

Harriet: Thank you so much, Suzannah. I think your point about uncertainty there is so relevant and important to us. We see uncertainty across genomics and we’re layering that here with uncertainty about futures, we’re layering that with uncertainty about health. And I hope that this has served to really illustrate the magnitude of the challenge we’re looking at here and I think also why for us as Genomics England this is just something we’re exploring. There’s so much to unpack, there’s so much still to be done.

In terms of our next steps for Genomics England, it feels like we could speak about this for a week but I’m going to have to wrap it up here. So, for us what are our next steps?  We hope really that as we publicise the findings of this Public Standing Group and when we start combining some of our work and looking at it in harmonisation with the work that others are doing across the world, we might be better positioned to understand the potential future directions that a lifetime genome could take.

That’s obviously very, very exciting because we expect to see this area of enquiry expanding significantly over the coming years.  And we’re already hearing about a number of other countries who are also doing birth cohort studies like we are who might hope to use similar applications of the lifetime genome going forward. So, there’s a real opportunity for us here to collaborate and it’s really heart-warming that the voices of our participants in this Public Standing Group can be used to facilitate that level of engagement. For us at the Generation Study, we’re already looking at the next iteration of our lifetime genomes work and we’re being led by the findings of this Public Standing Group as we move forward, specifically in that we’re going to be starting to take some of these emerging themes to the parents of our Generation Study babies to really find out how they would feel about them.

Harriet: I’d like to extend my sincere gratitude to all for being my guests today, Suzannah Kinsella, Suzalee Blair and Gordon Bedford. Thank you so much for your time and joining me in this discussion of the lifetime genome. If you’d like to hear more content like this, which I am sure you would, please subscribe to Behind the Genes on your favourite podcast app. Thank you so much for listening. I’ve been your host, Dr Harriet Etheredge.  This podcast was edited by Bill Griffin at Ventoux Digital and produced by Deanna Barac for Genomics England.