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.