As 2024 comes to a close, we take a moment to reflect on what has been a busy year at Genomics England and in the wider genomics community. Throughout the year, guests have joined us to discuss groundbreaking research discoveries, important ethical considerations, and share their personal stories. It was also a year of transformation: we rebranded our podcast as Behind the Genes, welcomed Dr Rich Scott as our new Chief Executive Officer, and launched the Generation Study, in partnership with NHS England. The Participant Panel also saw changes, with Kirsty Irvine stepping into the role of Chair and Adam Clatworthy and Helen White becoming Vice Chairs.
In this special end of year episode, Adam Clatworthy, Vice-Chair of the Participant Panel, sits down with Dr. Rich Scott, CEO of Genomics England, to look back on the highlights of 2024. Together, they revisit key podcast moments, reflect on research discoveries, and share insights into the evolving world of genomics.
Below are the links to the podcasts mentioned in this episode, in order of appearance:
"It's really important that we just continue to bring that patient and participant community on that journey, just to ensure that they really understand the full benefits. And we've talked about that on the episode today. I know that the panel has always encouraged the Genomics England team to look at its boots while shooting for the moon. I really like that phrase just to make sure, look, we can't forget where we've come from to make sure we're taking people on that journey"
You can download the transcript or read it below.
Adam: Welcome to Behind the Genes.
Rich: Our vision at Genomics England is a world where everyone can benefit from genomic healthcare, thinking about how we ensure the lessons we’ve learnt through our diverse data programme is embedded across all of our work. So that word “everyone” applies to people in lots of different ways, different communities people come from, different socioeconomic backgrounds, making sure that equity is baked into all of our work. And there’s real opportunity for genomics to play a broader role than in rare conditions and in cancer, we’re proud of the impact we’re already having there, and we should really look to the future.
Adam: My name is Adam Clatworthy, and I’m the Vice-Chair for rare conditions on the Participant Panel at Genomics England. On today’s episode, I’m going to be joined by Rich Scott, CEO of Genomics England. We’re going to be taking a look back at the key milestones from 2024 for Genomics England, and really discussing our hopes and aspirations for the year ahead. During this episode we’ll also hear from some of our guests we’ve had on the show this year, who have helped shape our discussions and shared some of their most impactful moments and insights. And if you’d like to listen to more like this, then please subscribe to Behind the Genes on your favourite podcast app. So, with that, thanks for joining me, Rich, how are you doing?
Rich: I’m great, thanks for hosting today, I’m really excited about it.
Adam: So, Rich, it’s been a pretty exciting year for you, you’ve taken on the CEO role at Genomics England full-time, so why don’t you just start by telling us about how those first few months have been for you?
Rich: It’s been a really exciting year, I think for us overall at Genomics England, and obviously personally taking on the CEO role, which is an enormous privilege. I’ve been at Genomics England nine years, and I think both a privilege and a real responsibility to take on the role. To think both about how we continue to honour the commitments we’ve given our participants and those we work with, and to think about the future, where we might go together, what evidence we need to generate, what our systems need to support. So it’s been great taking on the role, and thinking about that, both the present and the future, and there’s been lots, as we’ll talk about, there’s been lots going on.
Adam: No, that’s great. And I must say for myself as well, I started the Vice-Chair role at a very similar time to you early in the year. When I started, we were in the process of looking for our next Chair. Obviously, we had Jillian and Rebecca, both standing down, after many years in the role. They’ve been there from the start, really guiding the Panel through this amazingly successful period. But for me, I’ve really enjoyed working in partnership with Helen, who is our Vice-Chair for cancer. It’s been a real partnership, in terms of filling in for that interim leadership role. And we wanted to make sure that we weren’t just caretakers, we were really continuing to be actively involved in a lot of the discussions that are happening with your colleagues across Genomics England. Very much leading the Panel, and starting to have those important discussions around, where does the Panel go next? And what’s our strategy for the next two to three years? What are the key areas that we can drive real value and impact, in line with your own milestones at Genomics England?
And, of course, I’ve just loved getting stuck into chairing the Panel meetings as well, for me, that’s the best part, is really bringing together these amazingly diverse and passionate people. With so many different personalities, lived experiences, and a combined passion for just taking this forward together, and making sure that the benefits of genomics really impact, and that’s felt by the wider community itself. So there’s been lots of highlights to recognise this year, a real stand-out for me has to be the Genomics England Research Summit, from what I understand it was the most attended event to date. And it was just so good to see that a lot of the Panel were front and centre across that event, sharing their stories, having a really active role, whether introducing speakers, or telling their own journeys as part of the Q&A sessions.
I myself was really privileged to be on stage with Baroness Nicola Blackwood, literally nine days after I officially started the role. So it was great to just dive in at the deep end, get in front of an incredible audience, and just see that the broader Panel was front and centre of the event itself. And it was just great to see how popular the event was, many more people coming to have a chat to us on the stand than would have found us before, so, all in all, a really big highlight for myself. So, for you, Rich, are there any other highlights that you want to call out for this year?
Rich: And first to say, absolutely agree with the Research Summit being, you know, a highlight. The diversity of the discussions that we had, it’s one of the things we enjoy most about thinking about creating the summit, as you say, involving the participants very much at the centre. Like, physically at the centre of the room, for people to come and talk to participants and hearing stories. And then really seeing how over the years we can see the impact growing, and having talks, whether it’s about individual findings, or big research studies. So the final talk of the day was from Charlie Swanton. He was talking about some really exciting work that his team have done in our National Genomics Research Library, making a really important discovery about extra chromosomal DNA in cancer, and that’s now been published in Nature. And then right next to him, we were having a policy talk from Sam, who’s the CEO of NICE. And you can see the range of things, the sorts of evidence, sorts of conversation, we need to have, so that was really fantastic.
I’d call out one discovery this year that maybe we’ll come back to, and one other big highlight. So I think the big discovery this year was the discovery of this piece of non-coding sequence in the genome called RNU4-2, which turns out to be pretty much the most common cause of developmental disorders that’s been discovered. And it’s just so exciting to see that having been discovered in the National Genomics Research Library. And then the news, the knowledge spread, across the world, and family support groups coming together to understand and learn more about what that means for them. So that was, I think, the discovery over the years at Genomics England that’s touched me most, seeing that story.
And I’d say for us, organisationally, another big highlight has been the launch of our newborns programme, the Generation Study. So as lots of people listening will know, we’ve been actually thinking about what the questions underlying this study are for a good number of years, doing a lot of preparatory work. Actually, before we even started, setting up public dialogue jointly with the National Screening Committee about what the public were keen to understand and the appetite for research in this area. And then we’ve been spending several years designing the study, working with the NHS how to design, safely launch it, National Screening Committee involved all along, and working with patients and the public to design it. And this year now launching the study at a public launch, just a couple of months ago, by the time people are listening to this, and at the time of recording, more than 2,000 families have joined the programme.
So really exciting, us exploring a really big question for genomics, about the use of whole genome sequencing in newborn babies. Whether that should be offered to every baby at birth, primarily driven by that desire to do better for those children born with treatable conditions, where genetics, genomics, can be a way in to finding them, but doing that at the right pace, and very much in a research setting. That’s been a real, a moment, I think there’s been so much work on the path to it, but it’s right to sort of celebrate these staging posts on the way. We’re early in the programme, there’s lots to do, lots to work through, lots of evidence that we’ll accrue, but it’s really exciting to be at that staging post.
Adam: No, absolutely, and from my side, I think seeing all of the media pick up for the Generation Study launch, you could really see the excitement in the wider kind of community. Seeing it shared on social media, obviously those part of the 100,000 Genomes Project, seeing things like this. It’s like they can see the tangible outcomes of all the work that they’ve done as part of that initial project, and seeing how those learnings are then taken onto this new study. So we’ll now hear a clip from earlier in the year from Louise Fish, who is the former CEO of Genetic Alliance UK, who shares her thoughts on the potential of the Generation Study.
Louise: The Generation Study is looking at 200 conditions and whether it’s possible to screen for them. And for all of those 200 conditions, it’s a really exciting opportunity to see if we can learn more. Both about the potential to understand and develop treatments early, but also just about the chance to understand the natural history of that condition so much earlier than we do at the moment. And I think that’s it, it’s that understanding the natural history of the condition really early, and understanding how a family can be helped, through all aspects of the condition, which is giving people most excitement I think, alongside the potential to develop treatments.
Adam: So now, let’s look back at the priorities for Genomics England for 2025. Now, Rich, would you like to just take us through some of the things you’ll be focusing on next year?
Rich: Yes, one of the things that we’ve been doing this year, but also actually in the year before, is really looking to the future. And saying, where might we be in terms of genomics really living up to the impact it could have, if we collectively, in the UK and working with international partners, sort of get things right? And that’s very much about balancing the realism of where we are, and the impact we’re already having, and being proud of that, and then getting that same sort of ambition and realism casting to the future. And I’d say, I think there are two really broad themes. I think the first thing is, we’re enormously proud of the impact we’ve had already for families with rare conditions, and people with cancer, and that impact will continue to grow in the coming years, in those areas. And in the next few years, that’s where the biggest impact of genomics will continue, and the rare disease programme we have thinking increasingly about how we support the generation of evidence and pathways that lead to rare therapies.
So building, getting better all the time at finding diagnoses, which is still a long journey we’re on, and continuing that work. Increasingly thinking about how we can support therapies, and in cancer, again, playing a better role in cancer, both by driving efficiency in diagnostics, and efficiency in identifying where therapies enabled by genomics can be targeted. And we see lots of different examples of that, clinical trials is a big area where we hope to have more impact in the future, but also thinking about some of the novel therapies that are there, both for rare conditions, but also, for example, the cancer vaccines. And I think we’re uniquely placed in the UK, because of our partnership at Genomics England with the NHS, and the broader science ecosystem, to have that impact. So that’s the sort of like continuing very much where we are, but really pushing those boundaries.
And then also, if we look to the future, to say, what role could genomics play? And we, as you know, our vision at Genomics England is a world that everyone can benefit from genomic healthcare, and I think that plays out in a couple of ways. Firstly, thinking about how we ensure the lessons we’ve learnt through our diverse data programme is embedded across all of our work, so that word “everyone” applies to people in lots of different ways, different communities people come from, different socioeconomic backgrounds, making sure that equity is based into all of our work. And then also, to say there’s real opportunity for genomics to play a broader role than in rare conditions and in cancer, we’re proud of the impact we’re already having there, and we should really look to the future. And as we set out where we think what evidence is needed and where we need to learn what the digital infrastructure that we build and others build, need to build that to support that, we look across a few different areas. But really you can see genomics playing a role across the lifetime, in different places in different roles.
To pick one really powerful example is something people often refer to as pharmacogenomics. Which is a medical term for what boils down to look at a person’s DNA sequence, that’s the genomics bit, and making decisions based on what drug to give them, what drugs to avoid, or perhaps what dose to drug to give them. Based on, for example, the desire to avoid adverse drug reactions that people might be at high risk of, and you can identify that risk looking at the DNA. That is one example of genomics playing a role in being increasingly sort of preventive, getting away from disease, getting upstream of disease arising, or harm arising. And there are other opportunities in common disease as well, sort of casting forward to what that impact might be, and we feel that genomics could play a role, really broadly, across healthcare, in probably as many as half of all healthcare encounters.
But what we need to do over the coming years for that to potentially be the case is we need to build out the evidence, and we also need to understand what digital infrastructure we need, to make that a possibility. So that the information is there in simple format, for patients and the public, for their GPs, for their pharmacist, for people in any speciality in hospital, not just sort of rare disease clinics or in cancer, as we are at the moment. And so very much we’re thinking about the programmes that we and others could run to ask some of those questions, to think about what we need to build out. We feel that the UK’s uniquely placed to develop that evidence, so that we can make the choices about how genomics is used, and so we can be ready to embed it.
And it really aligns with that shift that we see and we hear, for example, in government being talked about, when we’re looking about sort of the shifts that the NHS sees as essential. You know, increasingly preventive, increasingly digital, increasingly in the community, and that point of sort of getting upstream. And genomics is going to be an important part of that. And we at Genomics England are really excited about the role that we can play, whether it’s through the digital infrastructure we build, whether it’s the programmes that we run to develop the evidence. Or whether it’s through the ethics and the engagement work, the work with the Panel, and the work with the wider public, to understand how we might develop this evidence, what people are comfortable with, what the expectations are. And I think that, pulling that together is complex, it’s really exciting to think about how we do it. I think we in the UK are uniquely placed to take advantage of that.
Adam: That’s great, and I think the pharmacogenomics piece is fascinating. I mean, you hear many stories of people having adverse reactions to certain medications, and you wouldn’t even think it’s something that may be linked to their genetic makeup. It’s so important that we take people along that journey, around what the benefits are, the ethics, to make sure that people really understand the journey that we’re making and what the potential impact could be. Whilst there’s lots of amazing new areas to develop into, a key focus for us on the Panel is really continuing to demonstrate how the 100,000 Genomes Project participants continue to have an impact, and they’re helping shape a lot of these developments. So they generously donated their data, it not only helps Genomics England develop the systems and services that now benefit many families, but it also continues to drive that scientific and technological enhancement. So it wasn’t just about reaching that 100,000 genomes, that project was really the starting point, as it were, it’s not the finish line, it laid the groundwork for a lot of these developments. So it’s about how do we focus on maximising the benefit for those participants over their lifetime, not just at that one point in time.
We know genomics is evolving so rapidly, what you can glean from a genome today is far more than what was possible in 2013. And we know the Diagnostic Discovery team is continuing to analyse the data for participants in the project based on these new advances, the team led by Suzi (Walker), who’s doing some amazing work there. Using all the latest tools and enhancements, just to make sure that those participants are really benefiting from that learning. So, we just need to make sure we stay close to that wider community, and just ensure they’re not forgotten, that’s really a key north star for us as the Panel. And something that we’ve been pushing is better ways that we can help to communicate the ways that you're celebrating these successes, providing regular updates on research progress, offering personalised reports based on the latest findings. And it’s all about providing them with that hope. Some people may never get a diagnosis, but it’s about giving the hope that one day they might get that phone call out of the blue, so it’s about giving the hope that those possibilities are out there for others.
So we’re now going to shift gear onto hearing from Shaun Pye, who is the father of Joey. She was diagnosed with DYRK1A syndrome, which is a rare chromosomal disorder, which causes a degree of developmental delay or learning difficulty, at the age of just thirteen. In this podcast episode, Shaun and his wife Sarah told us of their journey to Joey’s diagnosis, and how their role in writing the BBC television comedy drama series, There She Goes, has helped to shine a light on the rare condition community.
Shaun: Then the opportunity came along with 100,000 Genomes, and we signed up immediately. And then that, they did that, and it was a few years before that went through the system, and then we had, out of the blue really, we were asked to go and see a geneticist, and we had no idea that this is what it was. I honestly thought it was just a routine sort of, we’ve got a few more theories or something, and she just said, “We’ve found out what it is.” And it’s like, that moment is, well, we tried to describe it in the TV programme, but it is quite hard to describe what goes through your mind, when after thirteen and a half years somebody suddenly says, “Oh, by the way, that thing that happened with your daughter, we’ve worked out what it is.”
Adam: So here, Rich, did you want to provide some updates around future progress, particularly in diagnostic discovery and expanding the research?
Rich: When we’re looking to the future, we’re looking sort of in two areas. How we can build the impact we’re having today for families with rare conditions and cancer, and that very much includes the participants in our programmes, 100,000 Genomes, those through the NHS Genomic Medicine Service, who joined the National Genomic Research Library. And we’ve seen, I think the number that I’m most proud of at Genomics England is that number of diagnostic discoveries returned to the NHS, which has just hit the 4,000 mark. And for those less familiar with the terminology, essentially what that means is where either researchers or the internal team at Genomics England have identified changes in the genome data, that with new knowledge, often with a fine tooth comb, it’s considered likely that that is the answer to the cause of the rare condition in that person in the programme. So that’s 4,000 of those returned to the NHS.
And that tells you a lot about where we are for families with rare conditions, and I think there’s two points here. The first one is, we’ve got a long way still to go to do what we want to for families with rare conditions. I’m a doctor and still see families in my clinic once a month at Great Ormond Street, even with the incredible advances we’ve had over the last particularly 10or 15 years, with the changes in sequencing and analysis, we still find an answer for the minority of families. So that number is growing, and we’re really proud of how much better we’ve done, and there’s a long way left to go. And the really critical thing is designing a system which we’re so lucky with in the UK here, where we can continue to learn. And that’s not just for learning for the knowledge of people who might encounter the health system in the future. It’s to learn for those people who’ve joined the National Genomics Research Library, who’ve already trusted us to be the custodians of their data, and to do better in the future. And that’s what our diagnostic discovery work really aims to do.
And sometimes that’s about new gene discoveries. So all the time new things are being discovered each year. And if you look at the DNA code, if you like, boil it down very simply. 99% of it is what we call non-coding DNA, I’ll come back to that, about 1% is the genes, which if you like are sort of the books in the library of the DNA, overall DNA code, that we understand relatively well how they’re read by the body. The bits in between, it’s a bit of a funny, well-spaced out library this one, that’s the 99%, actually we’ve had very little understanding of most of that code in between. But we’re beginning, and particularly this year, to gain an understanding of how we might interrogate some of those pieces. And not all of the answers lie in that non-coding DNA, there’s lots of answers still left in genes that we don’t understand well.
But one of the examples I mentioned earlier, and in fact the thing, the single discovery I guess which I’m most proud of having happened in the National Genomic Research Library is this discovery of this non-coding region called RNU4-2. Which is a funny, like technical series of letters and numbers, but basically it’s a very small patch of the whole DNA code. Where this year, scientists discovered actually about 60 patients in the families in the National Genomic Research Library where that was the cause of their child’s developmental disorder. Actually, that knowledge has really rapidly spread across the world. So I actually saw on social media at the weekend, from one of the scientists involved in the discovery, that the family support group that’s been set up for what they’re calling ReNu syndrome, which I think is a lovely name in itself, speaks to that word hope that you mentioned, Adam. There are now 248 members of that group, and that’s how fast that knowledge spreads across the world.
And what we’re doing is thinking how we can support those discoveries more broadly, and non-coding DNA is one of those areas where that growth is, but it’s not the only one where we’re looking to support things. But it’s so exciting, and I think it gives you a sense of the scale of progress that is left to make. And I think a really important point is that remains a really important area of our focus, it’s not about moving on and looking just to the future, but we need to keep working for the families who are already part of our programmes.
Adam: That’s incredible, that 248 members in such a short space of time. And I love the ReNu name for that, I agree, I think that’s a fantastic way of positioning it. Earlier this year, we heard from Lindsay Pearse, whose son Lars received a diagnosis through that groundbreaking discovery of the genetic change in the RNU4-2, or ReNu gene, which was made possible by whole genome sequencing. She told us what the diagnosis meant for their family.
Lindsay: This feeling that, like, we’ve been on this deserted island for eight years, and now all of a sudden, you're sort of like looking around through the branches of the trees, and it’s like, wait a minute, there are other people on this island. And in this case, actually there’s a lot more people on this island. Yes, it’s very exciting, it’s validating, it gives us a lot of hope and, you know, it has been quite emotional too (laughter). And also, a bit of an identity shift, because I spoke earlier about how being undiagnosed had become quite a big part of our identity, and so now that’s kind of shifting a little bit, that we have this new diagnosis, and are part of a new community.
Adam: You talked about it there, Rich, I mean, it’s been really seen as a success story for the whole genomics ecosystem, especially the speed at which it all came together. From the conversations I had with some of the individuals that were involved in the study, from the date of seeing the first findings in the lab meeting to a polished pre-print going live, was exactly 47 days, which in science terms is less than a second. So that’s how they positioned it to me, incredible. And you’ve just said there, they set up this support group earlier this year, and already got 248 members, which is incredible. The impact on families is significant, the mother touched upon it there. I mean, for many parents there is that relief that it wasn’t something they did during pregnancy, but instead, it is a chance occurrence. For some, this knowledge means that they can make important decisions, choosing to grow their family, for example. And it really ends that diagnostic odyssey that many families face, providing answers and potentially ending unnecessary testing that their child is going through.
But I think, and I can talk from personal experience here, that the largest impact is really being able to connect with other families and building that community, you cannot really understate that. If I look at our own experience of getting a CRELD1 diagnosis for our children, the first time we didn’t feel alone was when we could find that community. We can support each other, we can learn from each other’s experiences, and really also drive forward further research into that condition through advocacy. So, I remember seeing that post on the Facebook page, about that RNU4-2 discovery, and this was before I’d even started in the role at Genomics England on the Panel, but you could really feel that excitement and the relief that they had. And they mentioned that the official paper only had 36 other people worldwide, they found this little Facebook group that they created with five families in, and in the space of, what, 6, 7 months, they’re already at 248. That’s all people that understand what they’re going through.
And it’s really hard to describe, it’s like finding your family that you’ve never met, people that understand, and they really get what you're going through. And being able to share tips, advice, learnings, and things that everyone’s going through at different stages in their child’s life. So, I really don’t think you can talk highly enough of that, that community aspect, and that’s just been amazing to see. And, look, this new era of research into the role of non-coding RNA genes, it really may open more opportunities for diagnoses for patients, participants potentially leading to hopefully more breakthroughs in the year ahead.
So now we’re going to move on to why it’s so important to engage patients and participants in the genomics world. So, we’ll now hear a clip from Helen White, who is the Vice-Chair for cancer on the Participant Panel. Now Helen and I have been working really closely together as Vice-Chairs in this interim leadership role, to really ensure that we continue advancing the Panel’s strategic initiatives while we recruit that new Chair. So it’s been amazing learning and working with Helen. In this clip, she discussed an important topic that’s been very much top of mind of the Panel, which is the importance of involving the patients and public in genomics research.
Helen: I think, you know, as patients, members of the public, we’re eager to get on and for change to happen and things to be better, but it’s, yes, a big, big process. But also, good to hear that you talk about it being a collaborative approach, it’s not just Genomics England, it’s the NHS, it’s members of the public and patient voices, it’s other organisations working in partnership.
Adam: Now I think we all recognise the importance of engaging patients and public to ensure diverse communities understand the benefits of genomics, and actively involving patients and participants in the research, to make sure that they’re including the perspective of what matters most to them.
Rich: I mean, it goes back to the thing that we really see as central to the value that we at Genomics England can provide. So we increasingly think of ourselves as a data and evidence engine for national scale genomics, and I think a really important to call out there is that evidence is broad. And part of that evidence is about public expectations, public preferences, and patient preferences. And if you think about the big things that we do and where we bring that value, and bring that data and evidence engine role, is, you know, firstly in the digital infrastructure that we build and the data that we hold and present to our various users. Secondly, it’s in the evidence that we distil from that, and very much thinking about part of that being evidence in and around, including that piece on what people expect, this isn't just about hard science and health economics, this is an equally if not more important part of that. And then thirdly, it is the third area of our focus is on that engagement piece, because that’s so fundamental.
And I think you and Helen called that out absolutely right, about that being, that’s integral to the whole process, and it’s the beginning of any programme you need to start with understanding what the big drivers are, what the expectations are, and doing this very much together. That’s one of the reasons we’re so fortunate to have the Participant Panel we do, in our Newborns Programme the Panel have been an important part of that design from the outset. It’s also about broader engagement with different communities, people who currently don’t engage with genomics, because they’ve had no need to, sort of understanding that piece. And I think we’ve definitely seen over time in health data research, but also research more broadly, where it’s quite easy for these things to be disconnected. And that results in two things. It results in research happening about interesting esoteric stuff, but not on the stuff that makes a difference for families. And I think that’s really important, because researchers need to be directed in the resource limited world towards the things that really make a difference. So that’s the first thing.
And the second thing is, it’s very easy, with the best will in the world, for people to make wrong judgements about what people are or aren’t content with, and you need therefore to be absolutely transparent about what the research is. Be really clear about what those questions are, and let people challenge you, right from the outset, so that we can design research studies, but also, the system as a whole, together in a way that everyone has a say. Not everyone has the same view, but how we can develop a system that takes into account those things and gets that balance right. This is about making a difference to people’s health outcomes, thinking about how we achieve that, while also balancing off all of the different views there are, is really important. And that’s at the heart of it. And it can be scary, because it’s right that there is that challenge out there. And it’s one of the things that I think we’ve learnt at Genomics England, how important it is to be really open to that challenge, and to do that piece really early in all of our work, and have it there baked into our governance as well, for example, the Participant Panel.
Adam: Absolutely, and I think you’ve summarised all the key areas there really well, in terms of the importance of that engagement. And one other area I’d just like to pick up on is the impact it can have on the patients or the participants, simply by having that connection with the researcher, that’s doing all of the amazing stuff that for some of us, it’s really hard to comprehend. But having that interaction and collaboration with them, it’s so important in terms of, again, I go back to giving you that hope. And a real highlight for me at the Genomics England Research Summit was when Hannah, one of the members of our Panel, she came running over to us and she was just beaming. And she said, “Guys, you’ll never guess what, I’ve just met the scientist who discovered my daughter’s diagnosis in the NGRL.” And you could see that she was so excited, you cannot understate the impacts that can have on them as a family. Like having that interaction and that personal connection with the person that really in some ways kind of changed their lives, in terms of understanding more about what that could mean for their daughter growing up, and how they’re managing the condition. So, it’s amazing when you can see those highlights and hopefully we’ll see more of those.
And it’s also really important that we get that diversity I think, as well, in that collaborative approach, just to make sure that it is equitable for all. And that really brings us on nicely to the next topic, which is about how do we bridge the gap between those diverse communities, and make sure that we’re reaching everyone as best as possible? So we’re now going to hear a clip from Sandra Igwe. Sandra is a CEO and founder of the Motherhood Group, speaking about the Generation Study. Now, Sandra spoke about the importance of building trust, and how it is vital to engage with a diverse group of communities in the design of research studies.
Sandra: Every community’s different, and every patient is different as well. And so that may require different focuses or different formats or different messengers for different groups. And so we like to have people with lived experience from the community representing that, and also driving the uptake of consent as well. But failing to engage diverse voices can lead to perpetuating inequalities in access and uptake. So it’s really important to have representation, because the lack of it in research can overlook communities’ specific concerns and needs.
Adam: So, Rich, did you want to talk about why it’s so important to have that diversity?
Rich: Yes, I mean, it’s critical. One, I mentioned earlier, our vision as an organisation is a world where everyone benefits from genomic healthcare, and that word “everyone” really resonates. I think Sandra has been really an important part of the work that we’ve done over the last couple of years, particularly through our Diverse Data programme. But I think one of the real challenges for us is how we make sure that that is something which is embedded across all of our work. And that’s something that we’re really focused on at the moment, how we embed the learnings that we’ve had through that standalone Diverse Data programme into everything we do. Because we’re absolutely committed to that, and I think that is engagement with the diversity of different groups relevant to each programme. I think one of the real important things is that transparency piece about actually that it’s hard to achieve equity in healthcare, full stop, because of historical underinvestment in some of these areas. And I think being clear with people about that is a really important step, and then talking really practically about why it really makes sense to take different approaches.
And so one thing about our programmes and how we think about the future overall, if genomics is going to make a difference to more than half of healthcare encounters, it needs to be something that across all communities, and across the large majority of people in each of those, that this is something that they want to be part of. Because it’s going to make a difference for them or their families or something they really buy into. And that’s why this isn't just about thinking only about specific programmes where this is a question, it’s about making sure that we’re designing a system, developing the evidence that is really broadly applicable, and continues to learn. Because we know that what we learn today is hopefully an improvement on where we are, but we continue to learn and learn and learn. And it’s about creating a system that does that, and does that equitably, or as equitably as we can.
Adam: So we’re now going to hear from Moestak Hussein, who works to build and embed cohesion, inclusion, and social justice, in her role at Bristol City Council, in public health and communities. Moestak talks about the value of co-production, and how this can help to build trust with communities who have historically been underserved or mistreated.
Moestak: If we talk about co-production, true co-production is really creating a power balance where there’s no hierarchy, it’s an empowering model. It empowers both the researchers or the person that comes in, but also the communities that participate, and you all start on the same level, on the same outcomes and the same goals and aims that you want to achieve.
Adam: So, if I look at that from our perspective on the Panel, I think co-production in genomics research, so using participant data in the NGRL, is certainly what we’d like to see much more of. To ensure that research is not only relevant to its intended audience, but also aligns with broader democratic principles of citizenship, accountability, and that transparency as well. But look, we have to be realistic. Some genomics research projects are not going to lend themselves to meaningful patient and public involvement in the early stages, but it’s really important later on in the research pathway, if the findings identify a patient population who might benefit from that research. At the moment, involvement of patients and participants, carers in research, is really not great, in terms of the researchers using the NGRL. So, in conversations what we’re hearing is they’re saying, “Well, we don’t know how to do it, we don’t know what steps we should take.” Or “We don’t think it’s relevant because we do this particular research.”
But really, our view is that some PPIE, or patient and public involvement engagement is better than none. Some may not be relevant for all stages of the research pathway, we’re not really seeing enough of that happening at the moment, and some papers are even being published without any context of the participants’ lived experience at all. Which can actually be quite frustrating, if you're that patient or parent, and you see a paper published, and you think, well, actually, why didn’t they reach out to us? Just to understand a bit about the symptoms that we’re experiencing, what are the challenges that we’re facing, just to really add that important context. So, I think there’s certainly an opportunity for us on the Panel, certainly for Genomics England, to be that kind of guiding light for those researchers. Whether it’s providing them with researchers, research papers, or a hub of patient advocacy organisations that are already connecting those patients with researchers. It’s all about signposting them the relevant information, so I think there’s certainly things we can do there.
And it really fits in with the bigger engagement piece. So, whether there’s a landing page or a dedicated website that shows them, where do they go, what are the steps that they can take, what’s the best practice, what’s worked well for another researcher, and how did that lead to really great outcomes for the families involved? That’s where I think we can all play a part in guiding them on that journey, rather than it just being a case of, they’re not doing that patient and participant engagement very well, and kind of criticising it. Let’s reach out to them and say, “Look, we can help you and guide you on that journey.”
Rich: I really agree with the need to make those connections happen. One of the things I think that is often missing is just a confidence just to crack on and do some of this stuff. And I think, actually, looking at the ReNu syndrome experience, that was work that was swiftly done. Scientific at the beginning, the initial publication put out there so that people could understand, and was quite medical by necessity, in terms of the speed of getting information out there. And then very quickly, and quite organically, patient support groups have formed, and also, the scientists are working with that group. I had a really interesting conversation with Sarah Wynn, who’s the CEO of the Unique last week, about how some of that has played out, how the role they’ve played in facilitating some of that. And some of it just comes down to sort of really simple things, and working through how you can set up Zoom or whatever meeting, for people to learn about the condition. And how you preserve anonymity, where that’s appropriate, but also allow people to have discussions about their loved ones where they want to, etc.
So it’s partly just about giving people the space and the confidence to get on with some of these things. And as you say our, one of the things we at Genomics England are quite thoughtful about, and I think it’s a really good topic to continue talking to the Panel about, is how we get that balance right. Where, actually, us being a connector and, as you say, signposting useful resources or ways of doing these things, just to break down some of those barriers. Because almost always the research groups, when they discover something new, this is really new territory for them, and they’re often nervous about doing the wrong thing. And so it’s about breaking down some of that anxiety actually I think.
Adam: Yes, absolutely. In our case, with our condition that we’re advocating for our son, we’ve been working with a researcher. And it’s almost on us as well just to kind of share our story with them, and making them feel more comfortable to ask us questions and be very open and transparent about the more we can share, the more that can hopefully benefit their research moving forward. It’s very much a two-way thing as well, but I like what you said there about having the confidence just to kind of reach out and start those conversations, and have that starting point.
Next topic, we’re going to look at some of the innovations that are on the horizon, that we’re seeing in the world of genomics. So, Rich, do you want to take us through what are the most exciting things that you're exploring at the moment? I know we hear a lot about AI and the technological aspect, so why don’t you take us through some of those?
Rich: Yes, so I guess this comes back to that question where we’ve been looking forward, you know, where might genomics be impactful and making a real difference to people’s lives, to helping us have a more efficient healthcare system in the future? And I think part of that is about this general shift. You know, genomics technology, we just take for granted now how much it’s shifted, how it’s within the means of the healthcare system to generate genomic data. And we’re really fortunate in this country because of the digital infrastructure that we’ve been able to build together with the NHS, that opens up a lot of these questions. And it’s just extraordinary the time we’re at in genomics, so almost take those two things for granted, which we should never do. The change in genomic testing technology, which continues to advance, and secondly, thinking about the digital infrastructure, like the nuts and bolts of what we’ve got, and the ability to safely store and reuse and analyse some of that data at scale.
And point at two big things. Firstly, genomics enabled therapies are changing a lot. So, our understanding, our ability to make a diagnosis, or understand what’s different about a cancer, for example, mean that in various ways it’s becoming feasible to do more tailored therapies. Where knowing that, the genomics nitty-gritty of that condition, helps you tailor that, or create sometimes even a bespoke personalised, truly for that one individual, therapy. And in rare conditions we see that with the so-called N=1 therapies, but also with gene therapies and so forth. And in cancer we see that with the cancer vaccines, for example. So that’s an enormous area of change, and one of our responsibilities is to support that sort of research, to help identify people who might be eligible for trials or treatments. But it’s also to work with the ecosystem to think about how we can help support the generation of evidence that means that those therapies can be affordable and so forth, on a scalable basis. So that’s one really big area of excitement. And we see our Rare Therapies Launch Pad being part of that, the National Cancer Vaccine Launch Pad, being part of that. So that’s thing one.
Thing two is AI and machine learning, and I think sat on alongside the sort of broader picture of saying, there’s a lot left to learn, there’s enormous potential in genomics in terms of playing a role in many different situations, not just in rare conditions, in cancer. And we know doing that well, but also scaling it, making it really efficient, so that we can do that in a context of a really busy health service, one of the answers is making sure that we’re leveraging everything we can about the potential of AI. And there’s lots of different ways in which that can be supportive, I won't list lots of them. But one of the things that we’re doing at Genomics England and working with the NHS is thinking about the most promising areas. And some of those are quite, like, down and dirty, if you like, so sort of saying, which jobs are there that we can use AI, if you like, as a co-pilot, alongside experienced scientists, to speed up their work?
And we’re really excited about the role we can play in a few ways actually. So the first one, back to that sort of data and evidence engine point, is helping organisations who have a tool, help validate it for use in the NHS, and say, “Does it perform to this standard? What do we want to say about how it performs from an equity point of view? And from a clinical safety point of view?” etc. And making that leap from stuff that makes a Nature paper to stuff that lands in clinic is surprisingly challenging, and that’s one of our roles. And we really enjoyed working with various companies and academics over the last few years on that. We did some work recently with Google DeepMind, on their AlphaMissense tool, thinking about how we can think about that role that might play, for example, in speeding up the interpretation of rare variants that might cause rare conditions. And there’s enormous potential in all sorts of different parts of the sort of end to end of genomics playing a role in healthcare.
And then I’d also say one of the really important things is because genomics in many ways just needs to be part of healthcare and not be treated differently, we also need to recognise where there are questions we need to work through really thoroughly that are a bit more bespoke. And one of the things that we’re really committed to doing, as we look to the future, is making sure that we can support on some of those questions that we really need to be clear on. I’ll go back to that point on, what do we mean about making sure we understand how a tool is working, and whether it’s producing results in an equitable way for all different communities? How do we understand that? How do we explain what we understand about the performance of a tool? How do we make sure that patient identifiable data remains non-identifiable if a tool’s been built, trained on data? Working through some of those questions.
But they’re really important for us to do, and we’re enormously excited about the potential, and we’re really committed to working through in detail how we can make that path to adoption safely and in the way that everyone would expect and desire as rapid as possible. We’re just one step in that process. But we really see a sort of important role for helping people who are producing various tools or various use cases, helping them prove them, helping them validate them, and making the system more efficient overall, but in ways that we really understand.
Adam: That’s fantastic. Look, not that I'm biased at all, but I can tell you that the AlphaMissense innovations that are being developed are shared a lot internally at Google, it has been seen as an amazing success case. So hopefully we’ll see more on that moving forward. But in the next clip, we’re going to hear from Francisco. So Francisco is the Director of Bioinformatics at Genomics England, who tells us more about the application of AI and its benefits in genomics in healthcare.
Francisco: So AI is already driving the development of personalised medicine for both research and healthcare purposes. Now at Genomics England we are investigating the use of AI to support a number of tasks, for the potential impact in both research and healthcare. In the context of healthcare, we are talking about AI tools that can support the prioritisation, the ranking of genomic variants to allow clinicians to make more accurate and faster diagnosis.
Adam: While all of these innovations sound really exciting, it’s really important that we just continue to bring that patient and participant community on that journey, just to ensure that they really understand the full benefits, and we talked about that on the episode today. I know that the panel has always encouraged Genomics England team to look at its boots while shooting for the moon. I really like that phrase, just to make sure, look, we can’t forget where we’ve come from to make sure we’re taking people on that journey.
So, we’re going to wrap up there. Thank you to Rich Scott for joining me today, as we reflected on key milestones for 2024, and looked at the year ahead for both Genomics England and the wider genomic ecosystem. If you enjoyed today’s episode, we’d love your support. Please like, share and rate us on wherever you listen to your podcasts. I’ve been your host, Adam Clatworthy, this podcast was edited by Bill Griffin at Ventoux Digital and produced by Naimah Callachand. Thank you everyone for listening.
