Behind the Genes

Dr Rich Scott: Reflecting on 2023 - A year of podcasts and a decade of progress

As we approach the conclusion of 2023, we reflect on a year that not only signifies our 10-year anniversary but also marks another chapter of our podcast. Throughout the year, guests have joined us fortnightly to share their research, stories, and aspirations for the future of genomic healthcare. 

In this special end-of-year episode, Naimah Callachand sits down with Dr Rich Scott, Interim Chief Executive Officer at Genomics England, to look back on the last decade of Genomics England. Tune in as we revisit memorable moments from the 2023 podcast episodes through key quotes, reflecting on the transformative journey of Genomics England. Join us for this insightful recap and a glimpse into the exciting future ahead! 

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

• Adam Rutherford, Laurence Hurst, Cristina Fonseca and Vivienne Parry: Public views on genetics - what have we learnt? 
• Dr Jack Bartram: Can genomics improve our understanding of childhood cancers? 
• Helen Webb, Lizzie Mordey, Kirsty Russell and Prabs Arumugam: How can advances in genome sequencing support patients through their sarcoma journey?
• Vivienne Parry and David Bick: Which conditions will we look for initially in the Generation Study?  
• Dr Nicola Byrne: What are the challenges of data governance in the digital age? 
• Chris Wigley: The journey to the Human Genome Project and beyond with Dr Francis Collins

 

“We’re also looking to the future where, as I say, we’re proud of the impact that there already has been, and the NHS Genomic Medicine Service is the first national healthcare system to offer whole genome sequencing and that is extraordinary. Thinking about how we can broaden our impact is a really important part of that, and that’s thinking about how we can be supportive of genomic technologies broader than just whole genome.” 

 

You can download the transcript or read it below.

Naimah: Welcome to the G Word.

Rich: We’re in an extraordinary time. The power to analyse genomic data has changed enormously. These are big changes in terms of the, sort of, analytics that AI could bring and the potential to work not just within the UK but with other countries and other big initiatives to make sure that we’re answering the questions as best we can.

Naimah: I’m your host Naimah Callachand and today we’ll be hearing from Rich Scott, Interim CEO for Genomics England. He’ll be sharing insights with us from the last year, and we’ll be revisiting key moments from earlier podcasts in the year featuring some of the voices that have shaped our discussions. If you enjoyed today’s episode we would love your support, please like, share and rate us on wherever you listen to your podcasts. Now let’s get into the interview.

So, this year we celebrated our ten-year anniversary and as 2023 comes to a close we want to reflect on our achievements not just in the last year but over the last ten. So, Rich first of all can you talk us through where we started in 2013 and where we are now?

Rich: It’s amazing really to think about how much things have changed in terms of genomics in clinic and in hospitals and then for us as Genomics England over the last ten years. So, actually thinking back ten years ago was only ten years after the Human Genome Project was completed, and when one thinks about what one could do in clinic and those questions you could answer using genomics in clinic. We could see what was coming, we could see these new technologies, next generation sequence in coming, but it was much more dependent on very targeted testing.

And now with, you know, our founding project, the 100,000 Genomes Project that Genomics England was founded to deliver in partnership with the NHS we asked the first big question if you like which was how can whole genome sequencing play a role in routine clinical care. And that’s now played out where evidence from the project, what we’ve learnt, the infrastructure we’ve built, and also evidence from around the world that through the NHS Genomics Medicine Service has now put that into practice and we’re working in partnership to help them deliver it.

So, it has gone from an idea where we could see this new technology, this potential, to a position where now patients in the NHS with cancer or with rare conditions have whole genome sequencing as a routine part of their clinical care where that’s in that national genomic test directory that NHS England have set up.

Naimah: Earlier in the year we heard from Dr Adam Rutherford, geneticist, author and broadcaster who commented on how the public perception of genetics and science has evolved over the last few decades.

“I’ve been doing this a long time and I think that when it comes down to it, genetics which is a relatively young science and really in a sophisticated way, you know, a mere few decades old, but what is it at its absolute core, it’s thinking about families, it’s thinking about inheritance and it’s thinking about sex. And these have been the major preoccupations of humans for thousands of years, and it’s only really in the last century, really only in the last 30 years or so, that we’ve had a sophisticated understanding of how these things work, if indeed we have had at all.”

Naimah: Let’s get back to Rich.

Rich, I’ve already touched briefly on it, but can we dive a bit deeper into the 100,000 Genomes Project and can you tell me a bit more about how it started.

Rich: Yes, so the 100,000 Genomes Project as I said was there to ask what role can whole genome sequencing play in understanding medical conditions, you know, is it ready for clinical prime time. And also how can we link routine clinical care to research so that we’re not just asking questions with today’s knowledge, but we can continue to build that knowledge for the future.

So, the 100,000 Genomes Project was driven by that idea that people realising, the government realising and the NHS forming a partnership with us Genomics England to explore that question in real depth. And it’s not just about the clinical aspects and the scientific questions, it has also been working with participants and the public to understand how we could do that.

And through the 100,000 Genomes Project we worked particularly with patients with cancer and rare conditions to see how we could help make diagnosis and improve care. And also with their consent make their data available in our secure, trusted research environment so that researchers could continue to look for answers that we couldn’t answer today, and we continue to do that work for those participants now.

Naimah: Next we’re going to hear from an interview with Dr Jack Bartram, a Consultant Paediatric Haematologist at Great Ormond Street Hospital for Children. He spoke about the significance and impact of integrating genomics into routine clinical care in diagnosing cancer in children.

“If I look back and if I reflect on the last three years, you know, we could probably accurately say at least a quarter of patients it has given us additional information which is either aided in diagnosis or like I had said help risk stratify a patient or potentially reveal a target for a therapy that we didn’t know of before. And what this has led to and what we’ve seen over the last three years or so is that we have actually changed management of patients based on this.

So, definitely we’ve got examples where we scan clarify the diagnosis, we’ve changed the risk category, or we’ve identified for example that an unexpected cancer predisposition in a family which has then led onto screening for the family which can then give the family the knowledge to try and do things to either modify the risk of cancer in the family or at least screen for it so they can detect things early to prevent things presenting too late.”

Naimah: Okay, now let’s talk a little bit about some of the initiatives at Genomics England. Can we talk about how they’ve progressed and what they might look like in the future.

Rich: Yeah, so we really are on a journey both as an organisation but with all of those partners that we work with across the UK system. And one of the great things I think about genomics and genomics in the UK is that the ecosystem that we’re in and the strong partnerships that we can form to ask these really big questions. So, if you like when we formed as an organisation we had the questions that we’re asking around diagnostic use of whole genome sequencing in the 100,000 Genomes Project.

And if you like in our second chapter as we’ve moved on to support the NHS in delivery of life clinical care we also have been thinking about the other big questions that we need to address. And those have played out and we’ve been really fortunate to gain the funding and to work in partnership with the NHS and others on these big questions. So, firstly our newborn genomes programme, secondly our diverse data programme and then our cancer 2.0 initiative.

And each of them have big questions behind them so that we’re saying, you know, where could genomics better support healthcare and move forward and improve care for everyone. Our vision at Genomics England is a world where everyone can benefit from genomic healthcare and each of them is pushing those boundaries, asking those questions in different ways.

For the newborns programme the big question is should every newborn baby be offered whole genome sequencing driven particularly by that potential to identify more treatable severe genetic conditions at birth, and if so how should we do that. Again, developing evidence in and around really broadly across the clinical and scientific aspects, but also engaging and understanding public attitudes how we might do that. And really understanding how that might impact on the healthcare system, how it might be delivered in clinical care.

For the diverse data initiative we recognise the challenges historically that there have been because of the inequity in terms of the communities who have been engaged with and included in genomic research. And the diverse data initiative aims to both understand where we are today but also to make sure for example the national genomic research library is at least representative of the UK population so that we can work towards again that word that’s in our vision, everyone, a world where everyone can benefit from genomic healthcare.

And in the cancer 2.0 initiative we’ve been exploring two really promising areas in terms of cancer genomics. Firstly, exploring different sequencing technologies and in this case partnering with the NHS to work on the Oxford Nanopore technology which we think is really promising in terms of use in diagnostics to speed up and better diagnose and treat cancers.

And also looking in our multimodal element of our cancer 2.0 initiative at bringing in a broader range of data alongside the genomic and clinical data that participants in our programme consent to us holding in our trusted research environments. And bringing in image data, images of their tumours on the histopathology slides that are looked at traditionally down a microscope but scanning those at very high resolution and with uniformity between participants working with NPIC to do that.

And also bringing in imaging, so radiology type imaging, of tumours so that that data is there to drive new discovery. And working in partnership with academics and with industry for example insitro to understand how we can both bring that data together usefully, put the right tools next to it and then allow that discovery so that our participants know that we’re looking not just on what we know today but to improve things for the future.

Naimah: Rich mentioned some of our initiatives here at Genomics England. And now we’re going to hear from some G Word guests on how these programmes can make a difference for those with a genetic diagnosis. We spoke to Lizzy Mordey, a clinical trials co-ordinator, whose husband Steve sadly passed away last year after receiving a sarcoma diagnosis. Lizzy commented on the pivotal role whole genome sequencing can play in receiving a quicker diagnosis on the identification of suitable treatments for patients with sarcoma.

“Personally, I would hope for quicker diagnosis, and I know that’s super hard to do and I think as we’ve discussed before on this call it’s such a rare thing and it, kind of, often doesn’t fit the standard clinical pathway and that’s one of the reasons why it’s so frustrating. So, anything that we can do on that front that I think would be hugely valuable to anyone experiencing a journey like what me and Steve went through, and yes advances like genome sequencing are really amazing in supporting that. Yes, as I mentioned as well any information about types of treatment, you know, the diagnosis is important but then the other aspect of getting a diagnosis and a specific diagnosis is understanding what’s most likely to help.”

Naimah: Next we’re going to hear from David Bick who is a principal clinician for the Newborn Genomes Programme at Genomics England. He spoke about the generation study which is being delivered in partnership with the NHS.

“I’m doing this because I imagine a day when all over the world we will find and treat children before they get ill. This is one of the most wonderful programmes to be involved with because I can see that future. I want there to be a healthcare system. I really want to help children stay healthy and really live their best lives, that’s what’s so exciting for me.”

Naimah: Now let’s get back to the interview with Rich. You mentioned all of the partnerships there and also one important one is with the NHS. As you know the NHS also celebrated its 75^th anniversary year as well as our tenth anniversary. And I wondered if you could tell me a bit more about that relationship with Genomics England and the NHS and how we’re working together. 

Rich: Our relationship with the NHS is absolutely critical. So, as we’re thinking about what we can do to enable better genomic healthcare we’re so fortunate in this country to have a national healthcare system. And for us and for our work at Genomics England it’s absolutely critical to work hand in hand with NHS England both in supporting their live clinical services so we enable their national whole genome sequencing service through the Genomic Medicine Service and also as we work through all of our patient facing research.

So, as we did for the 100,000 Genomes Project, as we are for our Newborn Genomes Programme and so forth co-designing these programmes so that the evidence that we’re able to generate is relevant in the UK for our healthcare system but also that national scale is just so extraordinarily powerful. And I think we’re really lucky for many reasons, the UK genomics ecosystem, it’s richness, the investment that has come from government and from the NHS in genomics and the recognition of its importance and from funders, and then that ability to ask questions at national scale.

And when you look internationally I think that’s the piece that people are often most jealous of in terms of the power of the questions that we can ask together with the NHS so that we can do exactly what we want to do which is transform care so that it’s better in the future.

Naimah: Rich highlighted the importance of our relationship with the NHS in transforming patient care. Louise Fish, CEO of Genetic Alliance UK commented on the importance of joined up care following diagnosis to support them throughout their lives.

“So, there is a lot more we need to do to work with the NHS to make sure that the care from the health service is joined up and co-ordinated for people. And then beyond that how does the co-ordination reach out to education, to housing, to benefits, to social care. The bit that almost should be simplest is if the NHS has someone who understands your child’s condition. But it should be possible for their school to be in touch and to find out how that condition is going to affect them and what support the school might need to put in place through an education health and care plan, but those links out to the other services aren’t there either.

So, for us there is a lot of work to do that’s not just around the diagnosis but it’s about ensuring that lifelong care and support is delivered in a co-ordinated way. And as more people are getting genetic diagnosis through this amazing, kind of, clinical advances how do we make sure there is also investment into the clinical services that are going to support people throughout their lives.”

Naimah: One of the key factors in supporting Genomics England to deliver this important work and all of our initiatives is the participants and the trust that they have in us. I wondered if you could share a bit more on this, so how Genomics England works with their participant panel.

Rich: Yes, so I think one of the things I’m proudest about at Genomics England and it was established about the time I was arriving at the organisation is the participant panel who are a group of our participants who represent a broader participant across the national genomic research library. And they’re a part of our governance, which governance sounds like a boring word, our relationship with the participant panel and their role in our governance is absolutely critical. They are the people whose data we are the custodians of, and we have a responsibility to them to live up to their expectations and also to make sure that they’re driving the decisions that we’re making.

An example is how we setup the access to data for researchers. So, I mentioned that the way the national genomic research library works and a model that we developed through engagement with the public and with the input of our participants is that people can visit the de-identified data in our trusted research environment, but they can’t take it away. They come and look at the data, they carry out their research which is on approved projects that is exploring healthcare questions. Those researchers have to go through an access process overseen by an independent access review committee that has our participants on it. So, they are making the decisions about the sort of research that they are comfortable with and that they want to be done on their data, and I think that’s really critical.

It has also been a real pleasure to work with our participants as we design future programmes either on for example finding further answers or looking for better treatments for people who are already in the national genomic research library, already a part of our participants or to help us design future programmes, for example our Newborn Genomes Programme. Our participants as well as engagement with potential future participants and the public more broadly has been absolutely critical in guiding us on how we do that.

It’s a team sport what we’re doing in many different ways. That’s with our broader ecosystem, it’s with our participants, and that means this isn’t about some people going away and sort of thinking up what sounds like the right programme and using all of their knowledge and expertise and producing something which is set in stone. This is about dialogue and engagement and using that to understand the right way of us approaching the questions we are and responding to what we hear. And our participant panel are absolutely critical in that.

Naimah: And maybe it would be good now to discuss a bit about the new challenges that we’re currently facing such as AI and issues with data sharing and data protection. Can you comment a bit on that.

Rich: Yeah, so genomics is a fast moving area. We’re really proud of the impact that we’ve had already, but we also recognise that at the moment we can only use genomics in a particular number of clinical situations. And even within those we can only help a certain proportion of patients. And what our participants say to us is that we need to be restless if you like and not accept where we are today. I think it’s quite easy to merely celebrate progress but it’s really important to also then ask where we need to be going next. I’m always guided by our participants thinking about what the new technologies are and what the different ways of approaching these scientific questions is critical.

We’re in an extraordinary time, genomic technology has changed enormously. The power to analyse genomic data has changed enormously. These are big changes in terms of the sorts of analytics that AI could bring and the potential to work not just within the UK but with other countries and other big initiatives to make sure that we’re answering the questions as best we can. That brings with it as with all of these areas questions about how you best do things and how you balance the importance of privacy, data privacy, with the benefits of being able to look across larger number of research participants to find answers that you just wouldn’t otherwise.

Likewise with AI there is the potential for us to both speed up current processes but also ask broader questions that we can’t yet using some of these technologies. Doing that in conversation with our participants and the public to understand how to best balance the different benefits and also clarify where there are, sort of, very clear expectations that we shouldn’t exceed is really important.

And I think that’s one of the things that puts us in such a strong position is that confidence that our participants are guiding us and often, and speaking as a doctor myself, it’s interesting the medical community is often quite paternalistic, quite cautious and quite narrow in what they might think their participants would want. What we like to do is be driven by what our participants want and expect, and I think that has been really important for us in our history up to now as an organisation and increasingly in the future.

Naimah: Yeah, and I think you’ve really highlighted how Genomics England were trying to keep the participants at the heart of everything that we do. Dr Nicola Byrne, the National Data Guardian for health and adult social care in England spoke about challenges with sharing health data and the importance of transparency and accountability in how data is used to support better outcomes from health and care services.

“So, it’s absolutely important that people feel that they can share that information and then feel confident that any information they do share is going to be used in ways that are safe, appropriate and ethical. Whether that’s for their own care or thinking about the benefit of other people in future through research, innovation and planning.”

Naimah: Well, let’s get back to the interview for some final reflections with Rich.

So, we’ve been looking back at our achievements over the last ten years, and I’ll be keen for us to look at what’s next. So, we’ve touched on it, but let’s take some time to reflect on the research that has taken place across the global genomic landscape for example and, you know, what we’ve done here at Genomics England.

Rich: The world has changed a lot in ten years. We’ve learnt a lot ourselves as an organisation and the researchers that work with our participants data and the national genomic research library have done extraordinary work. So, to give you a flavour of the sorts of things that I guess have changed in terms of what we can enable them doing in terms of research and research work. When participants data enters the research library they’re consenting to their genomic data sitting there alongside deidentified clinical data from their longitudinal health records.

As I said through our multimodal cancer initiative we’re also now able to bring in image data for our cancer participants. And increasingly, and this is something that Matt Brown, our chief scientist, was talking a lot about at our research summit in September, was bringing in additional modalities of data alongside that.

So, for example, in our rare disease participants bringing in proteomic, transcriptomic and long read data alongside the current sets of data. It means that that resource becomes even more powerful and able to answer a broader set of questions and able to ask questions across a broader set of data in terms of what might be useful for improving the understanding of medical conditions and improving clinical care.

So, for example, there has been amazing work over the last few years on cancer and the mutational signatures that are there in tumours. For example, Serena Nik-Zainal’s group understanding the patterns of mutation that are there in tumours driven by the underlying biology, not just because it helps us understand how things have happened, but also because it helps us understand about prognosis and how to treat conditions.

We’ve got really exciting early insights from the work on the image data, that multimodal data, working as I said with academia and also looking at the work that insitro are doing. Recognising patterns between you can see down the microscope of a tumour and the genomics. To understand some of those processes that we’ve just not been in a position to explore before.

And I think one of the really powerful pieces of work that is ongoing and will continue to is the ability for researchers and teams within Genomics England to continue to look for answers as our knowledge improves. So, some of the research work that we’re doing is discovering some new fields if you like of understanding. We also know that each year literally hundreds of new genes linked to rare conditions are identified.

So, enabling research that allows us to go back and look in our existing participants data to see if that new knowledge, that new knowledge about gene to condition links or better understanding of genomic variation means that we can keep looking for and finding things relevant to people who at the moment are research studies, 100,000 Genomes Project, or the Genomic Medicine Service initial testing with today’s knowledge or the knowledge of today or whenever their test was couldn’t identify because of the limitations of knowledge.

Now we can go back and identify through by sharing likely insights of clinical importance with NHS laboratories. We can then pass those findings back to participants and that has been the case in more than 2,000 of our 100,000 Genomes participants already and it’s enormously powerful. I think as we think about the direction of travel in the future, I think thinking about how we make sure that the breadth of questions that can be addressed for our participants in the national genomic research library is even broader, is really important. And that’s, as I say, something that’s particularly bringing in other types of data alongside has been a really important part of.

We’re also looking to the future where as I say we’re proud of the impact that there already has been, and the NHS Genomic Medicine Service is the first national healthcare system to offer whole genome sequencing and that is extraordinary. Thinking about how we can broaden our impact is a really important part of that, and that’s thinking about how we can be supportive of genomic technologies broader than just whole genome. So, for example,  panel and exome data and thinking about some of those other modalities of data like transcriptomes is really important as well for us. And that’s something that we’re exploring at the moment how we best do that, how we might do that.

Also thinking about the range of settings that genomics is currently playing a role and we can see a future in five to ten years’ time where rather than genomics being something where it plays a role in a small proportion of healthcare encounters where it could be impactful, over a much larger proportion, perhaps even up to a half of all healthcare encounters through, for example, pharmacogenomics potentially. And our Newborn Genome Programme is developing evidence that will help us understand whether that whole genome sequencing should be offered to all newborns. Potentially in research studies like Our Future Health are asking questions around the value of integrated or polygenic risk scores.

Through those sorts of elements we can see genomics playing a role much more broadly both in terms of the number, proportion of clinical settings where it’s relevant, much more towards it being a routine part of healthcare, but also across the lifetime at different stages and thinking about the value of genomic data if you like through the life course as something that can be looked at repeatedly increasingly without requiring specialist knowledge from the clinical teams so that it can have the impact it can. And thinking about how we might play a role in developing that evidence but also supporting the infrastructure through our expert knowledge in the management of coherent national genomic data sets.

And also having that dialogue in public about how genomic data might be used and working out how we generate evidence that can drive policy change. I think there is enormous potential in the future and we in the UK I think remain uniquely placed to explore those sorts of questions.

Naimah: So, we’ll wrap up there and that brings us to the end of our podcast for 2023. Thanks to Rich Scott for sharing his reflections on the last ten years of Genomics England and his aspirations for the future. Moving into the new year we’ll leave you with a powerful quote from our podcast with Dr Francis Collins who is renowned for his landmark discoveries and leadership in the Human Genome Project. 

“My dream Chris is that we come up with in the next decade a scalable approach to every genetic disease where you know the mutation.”

You can find all of the podcast episodes mentioned in this podcast plus many more on our website www.genomicsengland.co.uk or on your favourite podcast app. We look forward to bringing you some new episodes with more exciting guests in the New Year but do get in touch if you have any topics you would like us to cover. I’ve been your host Naimah Callachand, and this episode was edited by Mark Kendrick at Ventoux Digital. Thank you for listening.

 

Dr Helen Hanson, Kelly Kohut, Rochelle Gold and Amanda Pichini: How are genetic tests transforming cancer prevention?

On today's episode, our guests will be discussing the CanGene-CanVar programme. Funded by Cancer Research UK, the 5-year programme aims to create an interface between NHS clinical care and research that will expand genetic testing access for those with inherited cancers.

Our host Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Dr Helen Hanson, Consultant in cancer genetics at the Peninsular Regional Genetic Service, Kelly Kohut, Lead Genetic Counsellor at the South West Thames Centre for Genomics, and Rochelle Gold, Patient Representative on the CanGene-Canvar research programme and co-founder of BRCA Journey.

 

"There is also the possibility of finding out genetic information that’s familial or inherited, which could mean that the information is not only important for the person who is being treated for cancer at the current time but also as a next step informing relatives that they might have a higher chance of getting cancers in the future due to a genetic variant..."

 

You can download the transcript or read it below.

Amanda: Hello and welcome to The G Word.  My name is Amanda Pichini and I’m the Clinical Lead for Genetic Counselling at Genomics England.  We know that cancer is a very common disease.  About one in two people will develop cancer at some point in their lifetime.  Cancer is a disease of the genome involving many changes to a person’s genome over time as well as other factors.  Only a small proportion of all cancers are inherited, but this can have a significant impact for those families who have a much higher risk of cancer and options to reduce their risk.   

Today I’m delighted to be joined by Dr Helen Hanson, Consultant Clinical Geneticist; Kelly Kohut, Consultant Genetic Counsellor; and Rochelle Gold, Patient Representative and co-founder of BRCA Journey.  We’ll be discussing the CanGene-CanVar programme which aims to link NHS clinical care and research to expand access to genetic testing and care for people with inherited cancers.  Welcome, Rochelle, Helen and Kelly to The G Word.  Thank you for joining me today.  Let’s start with some introductions.  Rochelle, over to you? 

Rochelle: Hi, everyone.  I’m Rochelle and I’m one of the Patient Reps on the CanGene-CanVar research programme.  I also co-founded an organisation called BRCA Journey that helps to raise awareness of the BRCA genetic mutation amongst both clinicians and the community, and also supports people who might be at risk of the mutation or who are thinking about testing, all the way through to maybe having preventative treatment or preventative surgery.  We support those with that decisions.  We’re not genetic counsellors but we do basically talk to people about our experience and knowledge that we have of what it’s like as a patient to be someone living with the mutation.   

Amanda: Thank you.  Could you briefly tell us what BRCA is and how you came to be a patient? 

Rochelle: BRCA is a genetic mutation that puts people at greater risk of breast and ovarian cancer.  My mum had the mutation, in fact she had two of the mutations which is apparently quite rare.  She passed away from breast cancer and just before she passed away I found out that I had the genetic mutation as well.  I personally have had preventative surgery and reconstruction to prevent myself from getting breast and ovarian cancer.  I got involved in being a patient rep so that I can advocate for people who may have the mutation, but also make sure that as many people as possible can be tested and be aware that they have the mutation and have that power to have the knowledge to be able to do something about it should they so wish. 

Amanda: Thank you so much for sharing that with us.  Kelly, over to you? 

Kelly: Hello, everyone.  I’m Kelly Kohut, I’m the Lead Consultant Genetic Counsellor at the South West Thames Centre for Genomics, which is based at St George’s Hospital in London.  For many years I’ve been working in clinical practice in genetic counselling, seeing patients and their families regarding personal or family history of cancer, offering genetic testing where that’s available, and then giving the results and helping to refer people on for surveillance programmes and to discuss risk reducing options, and also help a lot with communication within families, sharing the information from the genetic test results.   

For the past few years, I’ve also been doing my own research as part of the CanGene-CanVar programme, funded by the charity Cancer Research UK.  This has involved partnering directly with patients and other expert stakeholders to co-design a patient website to support decision-making around the genetic chances of getting cancer in families.    

Amanda: Thank you.  And Helen? 

Helen: Hi, everyone.  I’m Helen Hanson, I’m a Consultant in Cancer Genetics.  I’m based at the Peninsular Regional Genetic Service which is in Exeter.  In my clinical practice I see patients who either have a cancer diagnosis to consider whether they may have an inherited susceptibility or people who maybe have a family history of cancer to try and determine if they are at risk due to their family history.  Like Kelly and Rochelle I’ve also been involved in the CanGene-CanVar programme for the last four years.  I’ve been involved in work package three of the programme which is developing clinical guidelines with the patients who have an inherited predisposition to cancer.  I was also fortunate enough to be given some funding to carry on with this work beyond the programme in the new NIHR Exeter Biomedical Research Centre.   

Also, I’m currently chair of the UK Cancer Genetics Group, who has an aim of improving the management of patients who have an inherited predisposition to cancer.  It’s been really great to work on all these different things and try and bring things together to try and improve care for patients who do have rare inherited genetic conditions predisposing to cancer.  

Amanda: Fantastic.  Thanks, everyone.  Kelly, I wondered if you could start us off by just explaining a little bit more about how genetics and genomics is relevant to cancer.  Especially inherited cancers, why is this an important thing to talk about? 

Kelly: The availability of genetic testing has been increasing steadily over the years.  Currently from pretty much anyone who’s been diagnosed with cancer there should be some awareness around the possible benefit of knowing the genetics behind the development of that cancer and whether any genetic or genomic testing might help to choose more personalised treatments or surgical options for that cancer that’s been diagnosed.  There is also the possibility of finding out genetic information that’s familial or inherited, which could mean that the information is not only important for the person who is being treated for cancer at the current time but also as a next step informing relatives that they might have a higher chance of getting cancers in the future due to a genetic variant and that they could ask their GP for referral to genetics to be offered genetic testing and to find out about their chances of getting cancer and the choices for how to manage that.   

Amanda: Thank you.  There are clearly some important things that someone would do differently when they know they have an inherited cancer.  Helen, how can we make sure that clinicians and patients and families know what do to in these situations? 

Helen: Following on from Kelly explaining the amount of genetic testing we can offer has really increased over the last five to ten years and we’re not in a position to offer many more patients genetic testing, it’s important that we also consider what to do with that information when we discover somebody does have a pathogenic variant or a mutation in a cancer predisposition gene.  There are over 100 different cancer predisposition genes described and actually having a variant in one these genes is rare.  It’s difficult and like other conditions in medicine due to their rarity to really understand how best to manage these patients.  But what’s very important is that we try to understand how best we can help patients manage their cancer risk based on the lifetime risk of cancer and the particular cancers that they can develop and ensure that patients across the country are all being given the same advice, the same information about their cancer risks.   

Through the CanGene-CanVar programme we’ve had a whole work package which is devoted to clinical guideline development where we’ve looked at a number of these genes and looked at the evidence that is available in terms of cancer risks, the utility of surveillance or early detection of cancers in that condition, and also whether risk-reducing surgery could be offered.  Really try to bring together groups of experts to discuss the evidence because for some genes it really is quite limited due to the rarity of the condition.  The overarching aim is really to develop guidance that is relevant and can be offered in our current clinical practice and is consistent to all patients who have a variant in one of these genes. 

Amanda: You mentioned that many of these inherited cancer conditions are very rare. Is there a need to look internationally or collaborate internationally?  How do you pull some of these things together when there’s so little information?   

Helen: We definitely have found it really helpful to have international collaborations.  Some of these conditions there may be very few patients in the UK who have this condition, so each individual clinician who works in cancer genetics may have only seen one or two patients with the condition than themselves and, therefore, collaborating with international colleagues has been very helpful and we have recently published some guidance for a condition BAP1 tumour predisposition syndrome which increases an individual’s lifetime risk of developing mesothelioma, which is a type of lung cancer, renal cancer and melanomas of the skin and eye.  This is a rare condition, but we worked with European colleagues to develop a set of guidelines advising what surveillance the patient should have, so looking to melanomas, looking for early detection of kidney cancers, so having that international collaboration has been really very helpful because in the UK there are so few cases per centre of individuals who have that condition.    

Amanda: That sounds really helpful.  Rochelle, we know that shared decision-making is so important in healthcare.  How can we make sure that the voices of patients are reflected within these guidelines that were developing and that it’s clear to them what needs to happen for their healthcare?    

Rochelle: I think it’s really important that patients are involved in the development of the guidelines, first of all, and actually within those guidelines there is stuff that talks about that, being about shared decision-making.  A lot of these guidelines are in a language that are quite a clinical language that is not necessarily accessible to patients themselves.  It’s really important that they’re part of the creation of them but also that there are things out there that enable people to understand what are these guidelines about, what do these guidelines actually mean in practice.  When you find out that you have a particular genetic mutation, of course, the first place you probably go is Google.  You find a hell of a lot of information and you find all sorts from different countries and different people and different organisations.  You’re like which is the thing I need to look at, which is the thing that actually tells me what’s going on, which is the thing that really helps me to understand what this actually means for me and what should happen to me?  What is the pathway for me, etc.   

I think we also need to recognise that people have different levels of health literacy as well.  I am someone who can probably navigate my way around a very complex system, which is the NHS, maybe better than other people.  But there are plenty of people out there who this is new people, this is a completely new thing that’s happened to them, a completely new thing to understand.  If you’re not used to being part of health systems and navigating your way around it, it can be quite scary.  What does mutation mean?  What does it mean for me?  What does it mean to my future?  What does it mean for my family?  All this information.  There needs to be something somewhere that talks about this, some sort of lay way and helps people to understand what this means for them and helps them to engage with it.  To some extent, that’s where my organisation was born from, that thing about having somebody who can just talk about it in normal words, in normal terms and normal views of what these guidelines actually do mean.  The fact is they are just guidelines, they don’t tell you this is what you do.  You’re this person, you’re in this circumstance, you do this, it doesn’t.  There’s some ambiguity there that needs to be navigated by the patient and they need support in order to do that. 

Amanda: That’s a great point.  Having previously worked as a genetic counsellor, also seeing patients with inherited cancer conditions, it really strikes you how individual each person’s journey and decisions are.  They’re thinking about all kinds of factors in their life or in their family’s life.  Navigating through that and understanding do I have surgery or do I have screening and how do I make decisions about this is based on my previous experiences and so many other factors.  Having access to different sources of support to help people navigate through that feels incredibly important.   

We’ve been talking a bit about inherited cancers in general, but you’re all here because you’re involved in the CanGene-CanVar programme.  Kelly, could you tell us a bit more about what that is and what he programme is aiming to achieve? 

Kelly: The CanGene-CanVar programme is a five year grant funded by Cancer Research UK.  It involves six different work packages, so lots of experts all around the UK have been allowed to have some dedicated time to work on specific areas where there hasn’t been enough resource put in in the past which has resulted in a real gap between the research and the current findings and actually using that information to benefit patients by bridging the gap and putting those research findings into clinical care.   

My programme is in work package four which is co-designing patient resources which are decision support interventions.  Basically, it’s a website and it can be printed as a booklet and it’s interactive and it’s up to date and it’s personalised to help convey the complicated information about genetic cancer conditions in a way that’s meaningful and patients can understand, and it helps them with their personalised shared decision-making.  The CanGene-CanVar programme is underpinned by the patient reference panel and they’ve been involved, including Rochelle and others, from the conception of the idea of the programme and all the way through with various different activities helping to look at documents as they’re developed, before their finalised, and giving input in focus groups and one-on-one and email conversations.  They’re called upon frequently to share their lived experience and say what’s important to them when they make decisions and that’s really helped to drive the direction of the research and inform the results before they’re published.    

Amanda: That sounds like a really helpful approach to developing something in a way that’s really working very closely with patients and participants.  Rochelle, it sounded like you were involved in that.  Can you tell us a bit about what that was like from your perspective? 

Rochelle: It’s really rewarding, it’s really motivating to be actually one of the patient reps in relation to this.  I don’t want to make my colleagues from the team blush, but it’s just such an inclusive environment where as a patient is really welcomed, really heard, it’s very much a partnership and that’s been really, really important and it makes you feel valued as a patient and actually the importance of the lived experience the patient view has really been prominent in this.  I would say that’s why it’s helped develop such a useful tool, the fact as a patient people are really valuing and taking into account our lived experience, our views, our understanding.  It’s been quite fun in some of the sessions.  There have been some good debates between us and some of the clinicians and it’s been really good and really useful.  I think some of the people who maybe haven’t encountered a patient panel before and engaged with patient’s lived experience have probably learn a lot from it because we are pretty empowered to use our voice in this.  It’s been a really great experience.  

Amanda: I’d love to dig into those debates a bit more.  Kelly, were there things that you changed in the decision aid as a result of some of those discussions or as a result of that input that maybe surprised you?  

Kelly: We have made changes based directly on what we’ve learned from the patients presenting their lived experiences.  They’ve been very open and honest with us.  Like Rochelle, I felt so privileged to be part of this real partnership with the patients.  As a genetic counsellor who had many years of experience in clinical practice before moving into this research role, I’ve been really surprised but also gratified by how much I’ve been able to learn from the patients in a different way because I am sort of taking a step back, I’m there as a researcher and not directly as a clinician looking after someone one-on-one in clinic and just thinking about their specific needs at that time.  But because I’m hearing from people from all different situations, different parts of the UK and other countries and maybe it’s 10/20 years since they had their genetic diagnosis are actually getting a bigger picture of their care needs that we might not have heard about as the clinicians on the ground because they might not be coming back to tell us.  If we haven’t opened the door to that conversation about their personal situation or who’s influencing them or what’s important to them when they make decisions, we just might not have learned about the thing they’re grappling with and they’ve gone off and maybe Googled, they’ve found a patient support group or something else to support them.   

In my research and in my interviews and the focus groups, all of the activities I’ve been learning about the gaps in care, what might be needed to address that.  The decision aid has not been yet ruled into clinical practice but we’re very keen to get it out there and everyone wants it and wants to use it.  We want to make sure that we’ve developed it in a robust patient-centred way as much as we can for us before we put it out.  It will always be updated and go through refinements, but hopefully in the New Year we will be able to let people start using it in the real world situation. 

Amanda: That’s great, I’m sure you’re looking forward to that. 

Helen: I was just going to add to that in terms of the guideline development we’ve had a number of consensus meetings where we’ve made decisions about guidelines, for example, genes that can be predisposed to ovarian cancer and we’ve included patients from the patient reference panel and from other patient groups in those consensus meetings.  Again, as Kelly said, that’s been so helpful because it’s really brought something to those discussions and it is a different perspective than when we see patients in clinic because often we’re seeing them at the point of genetic testing or maybe for their results, but actually that doesn’t give us that overview of the whole patient journey and the whole patient experience.  I think that has been really one of the benefits of this programme and Kelly has been really pioneering the co-design of patient information leaflets, decision aids with patients.  Rather than clinicians designing things for patients that we think that they will understand, it’s actually working with patients from the start to get things right the first time.  It’s been a really great part of this programme. 

Amanda: Rochelle, did you want to add something further here?  

Rochelle: Yes.  I think one of the sessions that we had as a patient and clinician and researcher session that really stood out for me was when we started looking at how do people make decisions. We had academics and researchers who’ve looked at how do people make decisions, talk about the knowledge base and the research base that we have about it.  As a larger group of patients we got together to discuss about how have we made decisions.  It was really interesting because I don’t think I’ve ever reflected on how I made the decision and what came from that in terms of what I did about having my mutation.  Hearing about how other people did as well, that session really does stick in my mind and actually I learnt a lot as a person about decision-making theory but also about myself and reflecting on how I make decisions.  So as a patient involved in this, it’s not always about what I bring to this but actually as a patient rep you get a lot from it, too.  I’ve learnt a lot from the colleagues that I’ve worked with. 

Amanda: That’s fantastic.  It’s really great to hear the careful thought that’s gone into this, a real excellent example that hopefully others can look to.  I think, Kelly, hasn’t your work won an award recently as well? 

Kelly: We as a whole team won an award from the academic health science network and the NHS Confederation, it’s called the Innovate Awards 2023.  This was for excellence in patient and public involvement in transformation and innovation.  Yes, it was a chance to showcase the really positive experience that we’ve had.  I think on all sides we’ve learnt a lot from each other and just to hope to inspire other researchers and clinicians to take this co-design approach with patients because we all benefit from it so much.  We think that the resources, the guidelines, everything that we develop will be better from the start if we work together throughout the project.   

We’re really hoping to encourage others to consider from the beginning of their idea about a research programme or clinical development to bring the patients in right at the start, because they can really help to guide where things go next and then throughout.  Even through to publications being on, committees, being co-chairs, presenting together at conferences, that can all help to really share the experience and the benefits that we get from the partnership. 

Amanda: That’s great, congratulations.  Coming back now to some of the aims of CanGene-CanVar and trying to bridge that gap, as you said, between research and clinical care, I guess that means there are some needs that still aren’t being met that are falling through that gap at the moment.  Helen, from your perspective what are some of those unmet needs that we currently have or areas that are still needing improvement?   

Helen: I think there’s still lots that we have to learn, particularly about individual risks for patients.  We might have patients who all have a pathogenic variant in a certain gene but their risks might be slightly different due to factors that can modify their risk.  Trying to understand some of those risks better so that we can really have much better informed discussions with patients about their lifetime cancer risks I think would be really helpful.  Work package one of the programme is really focussing on that and looking at some of the information we have through national registries and trying to understand risks for specific genes better, which will help our discussions with patients, and then we still need to understand, which is more outside the programme, more how surveillance, so early cancer detection through screenings such as mammograms or ultrasounds for different cancers can help detect cancers early. There’s still lots of information that we need to learn.   

I think Kelly’s decision aid which has been focussed on Lynch Syndrome, I think that can be translated across lots of other genetic conditions, because for each gene there is a different set of decisions.  For some of the genes that we developed clinical guidelines for we might be recommending slightly different management or for some of the genes we’ve recommended maybe a minimum and an extended level of surveillance, particularly for a gene called DICER1 where we’ve offered different options in childhood.  Decision aids would potentially help in some of those other genes building on the work that’s already been developed as part of the programme.  Although the programme is coming to an end in the next year, I think there’s still lots of work to be done in this area.  

Amanda: It really sounds like you’ve all been collectively improving how much this work is worthwhile, so that’s great to hear.  Rochelle, how about for you, are there areas that you would see as unmet needs or areas where we or research can improve to help patients and families with inherited cancers. 

Rochelle: Similar to some of the stuff that Helen was saying, knowing more about what happens when people have different types of treatment, different types of surveillance and monitoring and stuff like that, I think there are things that are evolving all the time.  I think in the end when you think about gaps, there’s nothing that’s going to be written down on paper that says if you have this, do this.  In the end, every single patient is an individual with individual circumstances.  I think until we actually know that if you do this, this happens and this happens, this is going to be your chances of survival if you go through this route.  Even then when you’ve got the chance of survival, that’s literally just a probability, it’s not a binary this will happen or that will happen.  There’s always going to be a need for discussion, there’s always going to be a need for these brilliant genetic counsellors that we have to talk us through some of those complex decisions that we have to make.  I think, yes, we’ll get more information, we’ll get more evidence, we’ll get more understanding of treatments that work best for different people, and we’ll get it out there and we absolutely do need to do that.   

Even when you have all the information you need, even if you made a solid decision, I mean, when I found out I had the mutation immediately I was like, right, that’s it, I’ll have preventative surgery after what happened to my mum.  It was an absolute no-brainer for me.  For other people it might not have been if they were at a different life stage.  I’d had my kids, I didn’t need my ovaries, I didn’t need my womb, it was pretty clear cut.  Even then when I was thinking about the different treatment and when to have that surgery, I got most of my information from bumping into somebody in the ladies’ toilets who has been through it before.  I think there’s always going to be a need in terms of being able to have those conversations to take in all the information you do that and make some sort of informed decision.  What came out of that decision-making workshop and all the other things that we did about probabilities, it’s all just a model.  It’s a model of what might happen.  The thing is, all of these models, they’re all wrong, they just help you maybe make a discussion or a decision that might be right.  You just never know.  I still don’t know if the decisions I made were the right decisions either.  There needs to be that space for people to consider their options, you’re never going to get the definitive answer.   

Amanda: An important message there.  We talk a lot about using digital tools to be able to do things better at scale, better ways to give information, but I think what you’re saying is we can’t replace certain elements of human connection, we can’t underestimate the value of that.  You made a really good point earlier as well about how so many of these decisions have uncertainty and it can be really difficult to navigate the complexities of a health system.  Perhaps even more challenging if you have struggles with health literacy or if you are an underserved group in some way or another.    

Kelly, I think you mentioned that some of your research has also touched on developing information for underserved groups.  Can you tell us a bit more about that? 

Kelly: We recognised that there are many underserved groups that are not represented in research, in literature, and applied for additional funding to do some specific targeted projects in the community.  There were a couple of examples I can mention.  One was inspired by colleagues at the Royal Marsden who made some videos about prostate screening and the had black men and their family members talking about this in a relaxed barber’s shop setting.  Through reaching out into the community I was connected with Lee Townsend from Macmillan who’s been making these barbershop videos around London for the last seven years.  He’s focussed on a number of topics like mental health, vaccination and cancer.  We connected and it was really about making that connection in the community, him as a trusted leader, and having formed partnerships with some of the barbers who opened up their barbershops for filming these sessions and went way beyond that.   

One of them has actually trained as a counsellor himself because he said men are coming for a haircut and actually they have a bald head, they don’t need the haircut, they’re coming actually for the chat.  Because it’s benefitting their mental health and they felt able to open up about topics that they wouldn’t talk about even at home with their family members or with their friends, such as symptoms of cancer, going for cancer screening or presenting for treatment if they were symptomatic.  It’s really powerful.  We’ve actually filmed six videos with black and minority ethnicity patients, talking about their cancer experience and they’ve really both helped others by setting an example that it’s okay to talk about these things.  Also, through the process an added benefit was helping themselves, so it was peer support.  When they came to the barbershop to film their stories, they didn’t need to stay for the whole time but they did stay for the three hours.  They said afterwards how helpful it was just to hear others in a similar situation sharing their stories.  One of them told me he’s got up on stage and shared his cancer journey and he’s been going to these patient groups and talking when he didn’t feel able to do that in the past.  It’s been a great project and we’re going to be adding the videos to the CanGene-CanVar patient decision aid website soon. 

Another thing that we’ve done in the diet and lifestyle section of the website where it talks about things that people might do to lower their chances of getting cancer have partnered with Professor Ranjit Manchanda who had some colleagues in India and made some infographics that specifically depict patients of a South Asian heritage and the types of foods that they might be choosing to give examples of how they might for example try to get more fibre in their diet to lower the chances of getting bowel cancer or trying to eat more fruits and vegetables or drink less alcohol.  It shows images of Indian patients.  What people have told me in my research, my interviews, focus groups, is they tend to go and try to search for something that means something to them, so they’re looking for someone like me.  One of the patients I filmed she said that she had breast cancer as a young black woman and she was only middle-aged women on the websites.  She thought why is this, do black women not get breast cancer or young women like me?  For her to share her story was very brave but also has the potential to help a lot of other people in the community.  

Amanda: That’s really powerful, so understanding those nuances in different cultures or communities or groups is just so crucial to really being able to also develop information or messages or provide care that’s going to really reach those people where they are, I guess. 

This has been a really fantastic conversation.  If we could end with a final question, it would be great to hear from your perspective just one thing that you’d like to see in the next five to ten years when it comes to care for inherited cancer susceptibility conditions.  Helen, let’s start with you? 

Helen: I think that in developing the guidelines one of the things that we’ve had to struggle or grapple with is a lack of evidence and the lack of the data that’s available for some of these conditions.  I’m really hoping that over the next five to ten years that we will see much more data on cancer risks and outcomes of surveillance progress for people who have an inherited predisposition.  Then we can utilise that information to be able to share with patients to enable them to make best decisions about their care.  There’s a number of initiatives that are currently underway thinking about how we might better collect data on patients with inherited cancer predisposition in the UK, through registries, so I am really hoping that we manage to get some useful data that we can then use in our discussions with patients going forward. 

Amanda: Thank you.  Kelly? 

Kelly: I think that over the next five to ten years as awareness and availability of genetic testing continues to increase, we know that there will be more and more families identified who have a higher genetic risk of getting certain cancers.  We can’t replace that personalised counselling that takes place, face-to-face or sometimes telephone and video appointments with a healthcare profession.  So there are more resources needed for the NHS to deliver this.  To compliment that, the patient website decision aid that we have co-designed is one way to help.  What patients tell us they would like, access to a central trusted source of information that’s up to date.  Importantly in genetics it’s very fastmoving, there’s a lot of research, guidelines are changing, and it’s very crucial to have information that’s correct and relevant for people, and also meaningful.  We can only do that by partnering together with patients and co-designing things rather than designing them and asking them afterwards if they’re useful.  It’s a partnership all the way through that we all benefit from.   

As I said earlier, it’s not a one-size-fits-all, decision-making is so personal and shared decision-making is recommended but we don’t always have enough time in clinic to really address all of the issues that the patient might not have even thought about themselves.  Having something like a patient-facing resource website booklet that they can look at in their own time, prepare for their questions that they really want to focus on in clinic, it might help give them the confidence to bring something up that they might not have otherwise.  It’s about a number of different ways of helping to support people.  We’ve identified that there are gaps in care that we could try to help address if we have more resource in future.  Those are my aspirations.  Thank you, Amanda.  

Amanda: Thank you.  And Rochelle, to you? 

Rochelle: I think for me I would like to have as many people as possible to understand or know about their genetic mutation status.  We know people don’t even know about the fact that they may have a genetic mutation that may make them more susceptible to cancers, and we know that even then if you do can you get access to testing to know whether you’ve got it or not.  That is the most important thing.  My mum, if she’d known that some of this was related, if she’d had that awareness that breast and ovarian cancer in your family was related to potential genetic risk, maybe she would have pushed harder to get testing and maybe she wouldn’t have been tested when it’s too late.  In the end, all this knowledge and empowering people with knowledge, whether that be about empowering people with the knowledge that they may have a genetic mutation, there’s a possibility of the genetic mutation, that these things are related and empowering people through the knowledge of knowing their genetic mutation status, all that is something that saves lives.  From my view, it undoubtedly probably has saved my life and so my hope for the future is that we can empower more people like me and we can save more lives.  

Amanda: Thank you for our guests today Dr Helen Hansen, Rochelle Gold and Kelly Kohut.  If you enjoyed today’s episode, we’d love your support.  Please subscribe to The G Word on your favourite podcast app and like, share and rate us wherever you listen.  I’ve been your host, Amanda Pichini.  This podcast was edited by Mark Kendrick at Ventoux Digital and produced by Naimah Callachand.  Thanks for listening.   

 

Rebecca Middleton, Professor Dame Sue Hill and Dr Rich Scott: Transforming the NHS with genomic testing

This year as we celebrated our 10-year annivesary, the NHS celebrated a significant milestone of 75 years. In this episode we reflect on our journey over the last 10 years, including the impact of embedding genomic testing into the NHS, how it all started with the 100,000 Genomes Project, and how patients have influenced the shape of the Genomic Medicine Service today.

Host Rebecca Middleton, Vice Chair of The Participant Panel at Genomics England is joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in the NHS, and Dr Rich Scott, Interim Chief Executive Officer for Genomics England in this special episode of the G Word.

 

"To date, we’ve had over 1,500 putative diagnostic variants returned to the NHS, so to our NHS genomic laboratory hubs, for further investigation, further discussion with clinical teams. About 80% of those have been returned to clinicians and therefore to patients to, for example, give them a diagnosis or to update the diagnosis that they’ve been given or make treatments available. That is a real positive benefit from that pipeline to individual patients."

 

Listen to the other episodes in our 10-year series:

• Shelley Simmonds, member of the Participant Panel at Genomics England, speaks to Louise Fish, CEO of Genetic Alliance UK, and Amanda Pichini, clinical lead for genetic counselling for Genomics England as they reflect on how the patient journey has changed over the last 10 years for those living with rare conditions.
• Dave McCormick, member of the Participant Panel at Genomics England is joined by Jenny Taylor, a valued member of our research community, and Professor Matt Brown, our Chief Scientific Officer, discussed the last decade of genomic research at Genomics England.

 

Transcript

You can read the transcript below or download it here: Transforming-the-NHS-with-genomic-testing.docx

 

Rebecca: Hello and welcome to the G Word. My name is Rebecca Middleton and I’m the Vice Chair of The Participant Panel at Genomics England. On today’s episode, I’m joined by Professor Dame Sue Hill, Chief Scientific Officer and Senior Responsible Officer for Genomics in the NHS, and Dr Rich Scott, Interim Chief Executive Officer for Genomics England. Today we’ll be reflecting on the last ten years of genomics, including the impact of embedding whole genome sequencing into the NHS, how it all started with the 100,000 Genomes Project, and how patients have influenced the shape of the Genomic Medicine Service today. If you’ve enjoyed today’s episode, we would love your support. Please like, share and rate us on wherever you listen to your podcasts.

Thank you, Sue and Rich, for joining me today as we look back at how genomics has developed in the NHS over the past decade and impacted tens of thousands of lives. It all started with the creation of Genomics England and it’s first groundbreaking initiative, the 100,000 Genomes Project, which sequenced around 85,000 NHS patients affected by rare conditions or cancers and led to groundbreaking insights and discoveries for so many families. I’m one of those rare condition patients and my genome sits in the National Genomics Research Library besides thousands of others. Along with the project, I’ve been on a journey over the past ten years and I’m still hopeful that through time and further scientific discovery, my family and many others will get the answers they need for the future.

Today is a chance to reflect back over the progress of the past ten years and to look forward about what’s next for genomics, for genomic science, the genomic service, and for the patients and families it impacts. Sue, welcome. If we can come to you first, and it’s a very big ask coming up, but can you briefly sum up your critical role in genomics over the past ten years and talk us through how you’ve shaped the service in the NHS to date?

Sue: My role in genomics in the NHS has actually been much longer than ten years, because particularly genetic services have been part of the NHS journey since it was formed in 1948. As Chief Scientific Officer for England, part of my responsibility since I was first in that post in the Department of Health at that time and now subsequently in NHS England, but still with a crosscutting health and social care role, genetics and genomic services actually sit under the remit of the Chief Scientific Officer for England. Shortly after the 100,000 Genomes Project was announced and that the NHS would be a major contributor to the 10,000 Genomes Project, I was asked to lead the NHS contribution to the 100,000 Genomes Project. My role has been both of leading the NHS contribution to the 100,000 Genomes Project, and then as Senior Responsible Officer for Genomics in the NHS in introducing the NHS Genomic Medicine Service to the NHS and its subsequent role in delivery and in supporting research and other initiatives.

Rebecca: Rich, over to you. Ten years ago I believe your role was very different and you were in clinic, so how has it changed over the past decade as genomics has embedded itself into the NHS?

Rich: That’s right. As you say, I’m a doctor by background and ten years ago I was consultant in clinical genetics at Great Ormond Street, where I still practice, I still do one clinic a month, but my role is primarily sat there meeting families with a child normally with some symptoms or some problems which people thought might be those of a rare condition and thinking about how we did that testing. At that time I was beginning to think about how we use in Great Ormond Street some of the newer technologies that were coming along. Using, for example, gene panels to help diagnose children who had epilepsy of early onset. Eight years ago, I joined Genomics England, where I could see the work of Genomics England and the partnership with NHS to deliver the 100,000 Genomes Project was something where at national scale we could do something, which at that stage I was just thinking about within one hospital setting. That’s really changed things for me in clinic, but also my role in that has changed. I joined Genomics England originally as the clinical lead for rare disease, so bringing that specialist clinical expertise to give advice on how we establish the rare disease component of the 100,000 Genomes Project.

More recently, in my role as Chief Medical Officer, I’m actually now as interim CEO thinking about how we’ve made that transition from the learning that we’ve gained through the 100,000 Genomes Project to working in partnership with the NHS and Sue and team to play our role in supporting their NHS Genomic Medicine Service. The next phase, if you like, or questions for us to make sure that we are still thinking in a forward looking way about how genomics can do what we believe it can do to be really there in the mainstream for everyone in terms of healthcare.

Rebecca: And it really has been quite a journey over these past ten years, moving from a research project with 100,000 Genomes Project to a live clinical service and all the challenges that that must bring. Sue, what are you most proud of, what are those challenges that you’ve had to overcome and how do you see genomics medicine service moving forwards so it can help even more families?

Sue: I think in answering your question, first of all, the Genomic Medicine Service is much broader than the whole genome sequence service that is delivered in partnership with Genomics England, and I’ll come back to that. In terms of what I’m most proud of, I think when we started the 100,000 Genomes Project there was a view that we shouldn’t involve the whole of the NHS in recruitment and in feedback to participants. I pushed really hard to have the whole of the NHS involved, recognising that if we were going to enter into a transformative project particularly for the use of cutting edge technologies by whole genome sequencing and the analytics that went alongside that, if we only started with a small number of centres we wouldn’t get the transformation that was required within a whole health system.

I’m really proud of the NHS contribution because the number of patients that were recruited over the period of time where we didn’t start active recruitment until 2013 and then we completed early in 2019, to deliver this from routine care in the NHS in terms of recruitment and then for feedback I think is something that is unsurpassed by many other research projects, let alone research initiatives in genomics across the world. So while this is a world leading project, it’s also I think a world leading contribution from the NHS from its routine care position.

I was also proud myself to be a participant in the 100,000 Genomes Project within the cancer arm of the project and being able to speak at different public events around the benefits of sharing data through the National Genomics Research Library, in that it’s a benefit that is much broader than you as an individual and has the potential to impact on thousands of people.

The other thing I’m most proud of is introducing the NHS Genomic Medicine Service because we still remain in the NHS world leading. Of course, a key part of that is that we have whole genome sequencing now available within routine care, within the NHS for patients with rare and inherited disease and cancer. Obviously not for all of those patients, but for the group of patients that fit within those broad-brush clinical groupings where there is the most need, but also the ability to deliver a diagnosis compared to what we could do from standard of care testing.

I think it’s those two halves for me with myself being a participant and being part of the NGRL right in the middle. Because, of course, from the NHS Genomic Medicine Service, which is what many other countries are grappling with, as soon as you introduce a whole genome sequencing service within a health system, how do you also continue to support research and continue to populate a research database that can be accessible, access is approved and in a safe data environment, how can you continue to support that?

Rebecca: Over to you now, Rich, on what you’re most proud of for yourself, but also for Genomics England and being the custodian of people’s data, that people have given their data through the 100,000 Genomes Project and they continue to give their data through the GMS. If you could pick up also on the research side, so the role that Genomics England has played in the development of the Genomics Medicine Service and the genomics within the NHS, but also in the wider ecosystem as well in terms of driving discovery and driving answers for the many families and for many patients out there who are still looking for those answers.

Rich: I think really there is one word that I come back to quite a lot which is the word together, where the journey that we’ve been on as Genomics England, me playing my role at Genomics England, but all of those involved across the ecosystem, that key partnership that we have with the NHS and with our participants, but also broader than that into the other people involved in delivering a live clinical service now that we support the whole genome element of. Also, collaborators in research, whether that’s in academia or industry, this is a team sport. What I’m proud of most is the impact that we’ve had together and recognising that when this journey started there was a real vision about the potential that genomics could bring in the coming years because of the changes that came. For example, the next generation sequencing technology, but also the changes in ability to hold and analyse data at scale. I think rightly no one would have pretended to know what the journey was.

I think the thing I’m most proud of is that we have navigated that together. In a way, we’ve continued to learn and we’ve learnt from the challenges that we have encountered, whether it’s through delivering the 100,000 Genomes Project or our work since, because there always will be challenges. The reason that we’re so proud of the impact that there has been is because we recognise it’s hard to do. I think that point particularly of linking healthcare and research is absolutely key. That’s something that we’re working with Sue and the teams across the NHS are absolutely committed to and recognising that this is an ongoing learning area. That means learning how we do every element of it, but it also means that marrying clinical care and research is absolutely critical to getting the best outcomes for the system as a whole and for participants/patients individually.

We’ve learnt how to set up a system that works in that way. We’ve worked through the consent models that patients in the NHS receiving routine care are comfortable with. The models of presenting data de-identified for researchers to use for purposes that those participants are comfortable within, as we call it, a trusted research environment, is a model that comes with challenges in terms of the data access for researchers but is one that is really broadly accepted and we can get to work at scale. I think it’s that ongoing learning and that we’ve now I think shaped an approach to genomics across clinical care and research which no one would say is perfect, but we definitely understand that we’ve learnt about a model that we can keep iterating on and, crucially, we’ll keep learning for participants present and future.

So that, as you say, Rebecca, one example of that situation is where families have had a test, whether that’s through 100,000 Genomes Project or more recently through the NHS Genomic Medicine Service, if today’s knowledge can’t find the answer in terms of a rare condition diagnosis, we know that one really important element of that research offer is that researchers will continue to look for answers. If something is found that is relevant, that can be fed back to the clinical laboratories to look at. If there is something that is clinically actionable, that can be reported.

Rebecca: Thank you, Rich. I suppose, Sue, we’ve had a decade of navigation, a decade of learning and a decade of adapting to really take us from the 100,000 Genomes Project to the NHS Genomics Medicine Service. There have been challenges along the way, no less we’ve had COVID to deal with, a global pandemic. What other challenges have you had to overcome to embed a workable world class service within the NHS, how have you navigated that with your partners such as Genomics England?

Sue: What’s been really important is actually understanding the challenges. I see the challenges more in the sense of the transformation that we need to drive rather than them actually being challenges. Some of the transformation that was driven through the 100,000 Genomes Project we’ve actually baked into the Genomic Medicine Service. For example, during the 100,000 Genomes Project we understood the importance of clinical leadership; particularly if genomics was going to be embedded across the NHS for patient benefit, then it would involve more clinical specialties than clinical genetics. Through the 100,000 Genomes Project, we really drove leadership and engagement across multiple clinical specialties.

We also drove this whole model that Rich talked about earlier about data sharing for broader benefit, and that benefit has then transferred over into the Genomic Medicine Service. We also recognise that if we were going to hold genome sequence a number of the processes, technical processes that happen within now our genomic laboratory hubs, needed to be standardised with quality and also external quality assurance at the core. That’s right from taking a sample from a patient, extracting DNA, the sequencing methodology, whatever that is, whether it’s whole genome sequencing of the type of testing within the NHS, so large gene panels, whole exome sequencing, or even smaller gene panels and other types of testing, that had to be consolidated and standardised. When results are returned we needed a standardised approach to results and interpretation. Across all of those areas if we’re trying to drive a national approach as we were in the 100,000 Genomes Project and we’re now in the Genomic Medicine Service is having an external quality assurance process that can look externally at each of those components that has been an important learning from the 100,000 Genomes Project into the Genomic Medicine Service.

A key other element of transformation, and I hope you’ll agree with this, Rebecca, was the involvement of members of the public and also participants. So right through the 100,000 Genomes Projects from Genomics England establishing The Participant Panel, through to the involvement of patients and public throughout the national programme for the 100,000 Genomes Project in NHS England, through to the genomic medicine centres that we created at that time, all of that has now been reproduced in the Genomic Medicine Service. So, patient and public involvement is a key part of the delivery mechanism.

Finally, we’ve had to change and continually adapt and develop the underpinning data and digital infrastructure in the NHS. Initially in the 100,000 Genomes Project we standardised the data that was collected for rare disease. We introduced the use of terms called human phenotype ontology system that enabled individual patients and their presenting characteristics to be classified; that’s continued on into the Genomic Medicine Service. But still more work to do in the 100,000 Genomes Project, we have to get multiple informatic systems to talk to one another. As we moved into the Genomic Medicine Service, we’ve both with Genomics England had to develop the analytical pipeline. We’ve had to develop a system that’s enabled whole genome sequencing, for example, to be ordered and then to be returned after sequencing and the semi-automatic analytical pipeline in Genomics England to generate a report that could then be looked at and interpreted in the genomic laboratory hubs and returned to patients.

What’s been a key part of that has also been the establishment of genomic multidisciplinary team meetings that came out of the 100,000 Genomes Project, but now is embedded into the Genomic Medicine Service. Of course, the difference between the 100,000 Genomes Project contribution and now in the genomic medicine service is to ensure there’s equity of access across the country in terms of the testing that is provided. A key part of the way in which the testing is offered is that introduction of the National Genomic Test Directory that sets out the standardised offer that will be funded by NHS England. That’s across where an inherited disease or cancers, as well as common diseases and some other pharmacogenomic applications.

The challenge always is standardisation, equity of access, and the infrastructure and leadership that makes this happen, together with developing a workforce that is genomically enabled so that it can spread out beyond that clinical genetics specialty into those multiple specialties to make sure that it’s embedded. So remain in terms of some of the challenges around making sure that we change clinical pathways where genomics means that we can do things much earlier on in a patient pathway and get a definitive result and intervene. This is particularly important in cancer, but it’s not just cancer, it’s also in rare disease.

Secondly, it’s about how do we develop the whole of the NHS workforce. We have 1.3 million people that are directly employed by the NHS. There are another 600 that actually are associated with the NHS through the contracts that they hold. It’s a huge task that we still have to undertake to make sure that genomics is available to all. There are two other elements, one we have to continue to take the public with us, and I think we’ve learnt from COVID that the public does understand now the importance of molecular tests. But there’s still more to do as we use genomic information more broadly across the NHS and to drive treatment decisions that might mean that a patient thought they were going to get one cancer drug but they’re going to get another because their genomic mutation says treatment B might be better for them than treatment A. We have and will continue to have a number of ethical issues that will arise as we consider whether it’s some of the research initiatives that are undertaken or whether it’s some of the decisions that might be made within the NHS Genomic Medicine Service or for the use of genomics.

That’s just a few, but it pulls it together from what we’ve learnt from the 100,000 into the GMS, what else the GMS is doing, and what some of the challenges are that remain.

Rebecca: And a great deal has been done. There are a number of key challenges ahead. As you say, it’s been a learning process, it’s been a navigation process, but it’s been driven by the people, by systems, by people, and they have played a critical role and will continue to play a critical role in ensuring the success going forward. I sit as the Vice Chair of Rare Conditions on The Participant Panel. Rich, if I can come to you next, how has the patient voice, how has The Participant Panel but the wider patient voice been heard and how are their view, their needs being reflected in addressing these four big sort of buckets of challenges and how are we learning these lessons going forward thinking of the new projects? For example, the newborn genome project, The Generation Study, could you give us some examples of how that learning is going forward and we’re learning from the past but preparing for the future?

Rich: I think it comes back to one of the really key words here is transparency and transparency in a number of ways. One of those is about the fact that this is a journey we’re all on together. So, one of the things that was there right from the beginning of the 100,000 Genomes Project before I arrived was putting participants absolutely at the centre of project and the design and then in time that came for us in Genomics England wider in terms of our organisational governance. Establishing The Participant Panel on which you’re a co-chair I think was really important for us early on to make sure that participants whose data it is we hold, it’s no one else’s data, it’s our participants’ data, are there driving and at the centre of the decision-making process, for example, through our Access Review Committee around who accesses the data. Participants sit on various of our governance groups and that’s a template which I think is one that people have seen in various fields as working really well. It’s one that Sue has touched on as being looked at and has provided useful input as to how patient and participant involvement has been set up in the Genomic Medicine Service.

I think recognising that much of this is us all collectively finding the right path forward is how we approach every question that we tackle. Sometimes that’s around really very practical questions. So, for example, Rebecca, you will know we often come to you guys about how we phrase a letter that might go out to participants, because recognising that from the inside of an organisation you see things one way but you might not recognise some of the nuances that are really important. Through to thinking about the really important questions around how we should set up access and safeguards around access that are there and, again, having participants sat on our Access Review Committee is crucial. And on to finding our way in new areas where the Newborn Genomes Programme I think is a really nice example where in many ways it’s quite similar to the 100,000 Genomes Project in that it’s a research study and it’s delivered in partnership with the NHS. It’s asking big questions around whether genomics can be used in a particular setting and if so, how could we use it? I think a really critical part of that and one that’s been, as you know, sat in a number of the different strands and in the overall governance for the programme, Rebecca, having participants guide us, whether those people who like yourself are already part of the national genomic research library or whether they’re people who might join the study themselves, or whether they’re people with a different perspective that is important to include, including that engagement work as well as just with the broader public as part of the study is absolutely crucial.

Before we even started the design of the study we set out with a public dialogue around attitudes to do with genome sequencing in newborns jointly with the National Screening Committee to understand where public views were to allow us to do a bit of a deep dive, not just a superficial vox pop view on what’s your attitude to a one-liner question, but really to work with people on understanding some of the nuances here. There’s a lot of nuance in most of the questions that we’re engaging with, and then through the programme into different elements, whether that’s designing the materials for consent or whether it’s understanding how to practically design the process for contacting families or feeding back findings as part of the study, making that part of the process rather than a separate endeavour I think is really crucial.

One of the words that I often hear people use when talking about challenging questions around how we make advantages in medicine is around explaining what people are doing. I actually think that’s a really interesting word which I don’t like. Most of the time this is about dialogue and it’s about discovering together what we are doing and it’s not people sit in with the best of intentions and with great expert knowledge in a closed room to decide what’s the best approach, which is often an easy way to think about how to design a research study, for example, but this needs to be an active process where there’s genuine dialogue and we learn and find our ways together.

Rebecca: Some great examples there, Rich, of how powerful the participant and the patient is in the designing future services for even more patient and participants going forward and ensuring how needs and views are reflected. But, Sue, it doesn’t just happen in Genomics England, there are patients and participants across the GMSAs as well, which is fantastic to see and I sit on the panel at the East GMSA as well. How important was that for you to establish that as part of establishing the Genomics Medicine Service? How important was that for you to ensure that the patient and participant view was there locally as well?

Sue: So, I think we learnt from the 100,000 Genomes Project about the importance of patients and participants being part of the research element of the 100,000 Genomes Project and how that was designed, how the different pathways were put in place. In NHS England the patient is at the centre of everything when we come to our services. In all of our major programmes we have patient representatives, patient for an ongoing discussion with patient groups. This was both building upon what we’d created together with the Genomics England Participant Panel in the 100,000 Genomes Project, but then making sure that it fitted with the new genomic medicine service infrastructure that NHS England commissioned from 2018 onwards. It was making it a key part of that, making sure that coproduction with patients and families and really having a temperature check on an ongoing basis about the experience of patients and families of the genomic medicine service that they were experiencing has been a key component of our infrastructure and how we’ve put the infrastructure together. I always think there is more we can do, there’s more we can do to monitor the experience particularly of services. That having been said, we will continue to drive forward the involvement of patients and families in the future iteration of services, whatever that might look like.

I think if you put patients and families at the centre, that actually helps you determine the type of services that need to be commissioned nationally, the type of concerns that people have of the service and the experience that’s feeding up, but it makes sure that patients and public representatives are part of all the important governance groups. For me, that’s where the conversation needs to happen, it needs to happen both at an individual service level but through all the levels of governance that actually govern a service that is commissioned by the NHS in England for the population that is being served. Even if we haven’t got it totally right, I hope that we’ve got it as a key component of all of the services and set out in commissioning specifications such that it’s a requirement as is having the technology in place to deliver a bunch of genomic tests.

Rebecca: Thank you, Sue. The Genomic Medicine Service is unique in the way that it provides a clinical outcome that is an answer for a patient, and also includes the option of joining the research library which supports further discovery. What are the benefits of this?

Sue: The positive benefit of having the National Genomic Research Library has been through the researchers, scientists who’ve been granted access to the data. To date, we’ve had over 1,500 putative diagnostic variants returned to the NHS, so to our NHS genomic laboratory hubs, for further investigation, further discussion with clinical teams. About 80% of those have been returned to clinicians and therefore to patients to, for example, give them a diagnosis or to update the diagnosis that they’ve been given or make treatments available. That is a real positive benefit from that pipeline to individual patients. But also the evidence that’s generated enables us to evolve the genomic test directory. It enables us to add to genes if new genes have been discovered to the test directory, changes in eligibility criteria, so it’s this continuous evolving learning system. From patients providing samples and their consent for their data to be used to the research library, to the feedback loop back into the NHS that influences both individual patient care, but also the type of tasks that get offered in the genomic medicine service overall.

In conjunction with Genomics England we have also been working on an NHS Genomic Medicine Service research collaborative that’s enabled us to look at the projects and initiatives that industry or other researchers would like to undertake, would like to have access to samples or to data, and to consider that on the basis of would this support the overall national endeavour in genomics, would it add to the National Genomic Research Library and create that learning system? Is it something that we need to do nationally rather than just locally in a research project? It’s making the infrastructure available for those research projects over and above the ones that are part of Genomics England spending review initiatives or NHS England’s Genomic Networks of Excellence. But enabling us to work with industry and researchers to support their research endeavours in a way that is contained and make sure that we create and continue to create and add to the National Genomics Research Library and this overall learnings infrastructure.

Rebecca: And Rich, anything further to add there?

Rich: I think that creation, that word, that learning infrastructure is the key thing there. I think the process that has taken us here where we’ve worked out how to integrate clinical care and research is so valuable, both for the individual patient and participant and also for the system as a whole, often making the choices that allow us to arrive in the direction actually all point together towards doing the same thing. It’s really constructing things around that central vision and I think that is so important.

Rebecca: Thank you so much. We’ve had a whistlestop tour of genomics over the past decade which and improved and informed the lives of thousands of patients and families. But to finish, let’s look forward. What is your one hope for the future of genomics within the NHS? Rich, perhaps we could start with you?

Sue: I think my wish is a relatively simple one, which is that we maintain this momentum that we’ve got and we’ve built together. We’re on a journey and it’s momentum towards genomics being absolutely part of the day-to-day, the mainstream of healthcare so that wherever you are in the country, whoever you are and often potentially without the clinical teams needing to feel they’re doing anything very genomicsy, if you like, genomics is there and bound into the routine care that one has to deliver. I think when we look and we compare ourselves to other countries, because of that link that we’ve made and that partnership between clinical care and research, we are in a really strong position. It’s therefore about maintaining that momentum and getting us to that place where genomics is just a routine part of everyone’s care.

Rebecca: And Sue, finally over to you, what is your one hope for the future?

Sue: What I’m looking for when we put the patient at the centre is that we adopt all of the genomic technologies that would really enable us both to diagnose a genomic cause for patients that of presenting symptoms, or to inform their more preventative or inform their treatment such that genomics becomes part of everyone’s pathway of care in the NHS, and that we really maintain the NHS Genomic Medicine Service as the most advanced service within the world and that it continues to work to populate a National Genomic Research Library with Genomics England such that patients can benefit from ongoing analysis and interpretation of their data. That we really become the leader across the world of this learning ecosystem and we give as many patients as possible a diagnosis and that we inform as many patients as possible treatment pathways. I believe we’re in the next wave of genomics following the discovery of DNA in 1953, and now it’s how do we make genomics available to everyone across where an inherited disease, across cancer, across common and acquired disease and in pharmacogenomics.

Rebecca: Thank you to our guests, Professor Dame Sue Hill and Dr Rich Scott, for joining me today. It’s been great to talk to you and understand the journey so far and what’s ahead for genomic healthcare. Happy 10th birthday, Genomics England, and happy 75th birthday, NHS. Here’s to the next decade of supporting patients and more scientific research and genomic discovery to drive home. If you’d like to hear more like this, please subscribe to the G Word on your favourite podcast app. I’ve been your host, Rebecca Middleton. This podcast was edited by Mark Kendrick at Ventoux Digital and produced by Naimah Callachand. Thank you for listening.

 

Amanda Pichini, Jonathan Roberts and Emma Walters: How can Genetic Counsellors improve care through research?

Genetic Counsellors play an important part in healthcare and research. This Genetic Counsellor Awareness Day we focus on the role genetic counsellors have in research, to help improve care for patients and families.

On this episode of the G Word, Amanda Pichini, Clinical Lead for Genetic Counselling at Genomics England, is joined by Emma Walters, member of the Participant Panel at Genomics England, and Jonathan Roberts, NHS Genetic Counsellor and Clinical Content Developer at Genomics England. Emma shares her personal story and our guests delve into the impact of not having access to genetic counselling. They explore how research priorities can be defined by bringing together both the genetic counsellors and what they're doing in their healthcare roles and the patients themselves and their experiences together.

Johnathan will also be talking to genetic counsellors throughout this episode from the recent World Congress on Genetic Counselling.

You can download the transcript here.

"I think another way in which research can really push that agenda forward is understanding who isn't accessing that [genetic] counselling. So when people get through the door and they experience genetic counselling, often that can be really valuable and they can suddenly start to make sense of all this testing, this family history. They can have a chance to talk about how they feel about it."

 

With special thanks and acknowledgements to World Congress on Genetic Counselling and Wellcome Connecting Science for their contribution to this podcast including Genetic Counsellors, Manisha Chauhan, Alison McEwen, Jared Warde-Jospeh, Nour Chanouha, Jehannine Austin and Kennedy Borle.

Dr Mie Rizig, Sir John Hardy, Candice King and Will Townley: Why is diversity in Parkinson’s research so important?

Unfortunately, please note you may be able to hear some background noise or static during some parts of the recording.

In this episode of the G Word, Candice King, Patient and Public Engagement Manager and Will Townley, Cohorts Manager who both work at the Diverse Data initiative at Genomics England, are joined by Dr Mie Rizig and Sir John Hardy, who both work at University College London (UCL).

This podcast delves into a new paper published by Mie and John in the Lancet Neurology. The paper describes a novel African ancestry Parkinson's disease genetic risk factor. Our guests discuss the need for diversity in genetic research, the key findings from their study, and opportunities for future research in Parkinson's disease.

 

You can read the full transcript here: Diversity-in-Parkinsons-research.docx

 

“The number of people [in genomic research studies] from a white background, Northern Europeans, is about 95%. The number of people from an African background is only 0.2%. This is a significant disparity. When [clinicians] want to translate this into clinical practice, [they] think about: How will be able to test those people sufficiently enough?”

 

The study was conducted by scientists from the UCL Queen Square Institute of Neurology, London, the National Institutes of Health, and the University of Lagos, Nigeria as part of the Global Parkinson's Genomic Program (GP2). GP2 is supported by the Aligning Science Across Parkinson's (ASAP) initiative and implemented by The Michael J. Fox Foundation for Parkinson's Research (MJFF). The paper mainly included cohorts from:

1. The Nigerian Parkinson Disease Research Network, which is part of the International Parkinson's Disease Genomics Consortium (IPDGC) Africa, a collaboration of cohorts across 12 countries to increase the scientific understanding of Parkinson's disease in Africans. IPDGC Africa is funded in part by MJFF.
2. The BLAAC PD study is a cross-sectional study that collects blood or saliva samples and clinical data from Black and African Americans. It is funded by ASAP and implemented by MJFF.
3. Most of the control participants were obtained from 23andMe, a personal genetics company that has assembled a sizable cohort of individuals who have consented to contribute their data for use in various research studies.

Vivienne Parry and David Bick: Which conditions will we look for initially in the Generation Study?

The Newborn Genomes Programme is delivering the Generation Study in partnership with the NHS. The study will explore the possibilities of whole genome sequencing in newborn babies, including to identify a wider range of rare genetic conditions current NHS newborn blood spot test. To do this, we have undertaken significant engagement work to identify the genetic conditions that should be looked for and fed back to families.

In this episode of the G Word, Vivienne Parry, Head of Public Engagement at Genomics England, speaks to David Bick, Principal Clinician for Newborn Genomes Programme at Genomics England. They discuss the process behind determining the provisional list of over 200 conditions caused by genetic changes in more than 500 different genes and how this list may change during the course of the study as new evidence emerges.

 

You can read the transcript here: Conditions-list-for-the-Generation-Study.docx

You can also find a short explainer video explaining the conditions list on our YouTube channel.

Dr Jack Bartram: Can genomics improve our understanding of childhood cancers?

In this episode of the G Word, Naimah Callachand, Head of Product Engagement and Growth at Genomics England, is joined by Dr Jack Bartram, consultant paediatric haematologist at Great Ormond Street Hospital (GOSH) for Children.

Dr Bartram leads on molecular diagnostics within the haematology department at GOSH and has expertise in minimal residual disease in acute lymphoblastic leukaemia. He is currently the clinical lead for haematological malignancy genomics in the NHSE North London genomic laboratory hub and has been responsible for the implementation of advanced genomics and whole genome sequencing into clinical practice at GOSH.

Approximately 2,000 children in the UK receive a childhood cancer diagnosis each year. However, childhood cancers account for a relatively small percentage (less than 1%) of all cancer diagnoses in the UK. This rarity has posed challenges in fully understanding the associated risk factors and underlying causes. In this podcast Dr Bartram discusses how genomics has emerged as a pivotal tool in enhancing our understanding, offering opportunities for precise diagnosis, personalised treatment, and improved screening methods for childhood cancer.

 

You can read the transcript here: Childhood-cancer-awareness.docx 

 

"If I look back on and if I reflect on the last three years, we can probably accurately say for at least a quarter of patients it's [genomics] given us additional information, which has either aided in diagnosis or like I'd say to help re-stratify a patient or potentially reveal a target for a therapy that we didn't know of before."

Will Macken, Nicky Whiffin, Charlotte Durkin and Jamie Ellingford: Early Career Researchers navigating the field of genomics

This week on the G Word, our host Will Macken, is joined by a panel of Early Career Researcher (ECR) representatives to discuss how ECRs can navigate and position themselves within the ever-changing field of genomic research.

Will is a clinician and researcher at the University College London Queen Square Institute of Neurology and Great Ormond Street Hospital. Will is also an ECR representative on the Genomics England Clinical Interpretation Partnership board. In this week's episode he's joined by:

• Nicky Whiffin, Associate Professor and Sir Henry Dale Fellow at the University of Oxford, and Quantitative Genomics representative on the Genomics England Clinical Interpretation Partnership board
• Charlotte Durkin, Head of Programme at the Medical Research Council, and
• Jamie Ellingford, Lead Genome Data Scientist for Rare Disease at Genomics England.

 

"There can be people that just pick up basic skills to analyse the dataset that's in front of them that they've spent months in the wet lab trying to generate. Through to people who are proper software engineers and will be writing unit tests to test every single line of that code. I don't think it really matters where you sit on that continuum as long as it works for you, and it aligns with your future career progressions and what you want to be in the future, essentially."

You can read the transcript here: Early-Career-Researchers.docx

You can find the information on resources, events and support for ECRs mentioned on this podcast on our website.

We've got free-to-attend monthly research seminars, and Research environment training sessions for those who have joined the Genomics England research community - find out more and register for our next sessions here.

Email us if you have any questions: gecip-help@genomicengland.co.uk.

Sarah Justine Kerruish, Hélène Guillaume Pabis, Emilia Molimpakis and Lois Gulliford: How can we overcome bias in healthtech?

In this episode of the G Word, Lois Gulliford, Legal Counsel at Genomics England, is joined by Sarah Justine Kerruish, Chief Strategy Officer at Kheiron Medical, Hélène Guillaume Pabis, Founder and CEO of Wild.AI and Emilia Molimpakis, CEO and Founder of thymia, to discuss how to tackle bias in healthtech.

With growing concerns about the safety of AI prompted by rapid technological advancements, a crucial question arises: how can we guarantee the equitable and unbiased utilisation of AI? Our guests delve into this issue and examine the importance of integrating diverse data sources.

You can read the transcript here: How-can-we-overcome-bias-in-healthtech.docx

 

"I think multimodal is the future, but we have a very special responsibility to be inclusive - to make sure that we are completely rigorous and robust in making sure that women and people from ethnic minorities are represented from the beginning and not as an afterthought."

 

Jamie Ellingford: Genomics 101 - What is a bioinformatician?

In this episode of our explainer podcasts, we’ve asked Jamie Ellingford, Lead Genome Data Scientist for Rare Disease at Genomics England, to explain what bioinformaticians do and how they're involved in the study of genomes, in less than 10 minutes.

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 read the transcript here: What-is-a-bioinformatician.docx

If you’ve got any questions, or have any other topics you’d like us to explain, feel free to contact us on info@genomicsengland.co.uk.