Behind the Genes

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.

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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. 

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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.

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.

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 [email protected].

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 [email protected] or wherever you get your podcasts. Thank you for listening.

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 [email protected].

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.

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 [email protected].

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.