Dr Rich Scott and Helen White: How can we work in partnership towards a new era of genomic medicine and research?

Genomics has changed considerably over the past 10 years, and we
are now exploring how to integrate it into routine healthcare. In
this episode, our guests reflect on this evolution and discuss
how the key learnings from the past 10 years can shape the
genomics ecosystem of the future. They highlight the importance
of partnership across teams, organisations and participants,
emphasising the importance of keeping participant and
patient benefit at the heart of research, whilst also addressing
the ethical and safe storage of patient data.


In this episode, our host, Helen White, who is the Participant
Panel Vice-Chair for cancer at Genomics England, speaks with Dr
Rich Scott, CEO of Genomics England.


 


"There’s a whole new era I see coming in terms of the therapies
that are directed at the causes of genomic conditions, both in
rare conditions and in cancer, and thinking as we do that, about
how we structure the system to generate evidence, and to respond
to it, and have a conversation about what the right balance of
evidence for patients to make a choice about their own care."


 


You can download the transcript or read it below.


Helen: Welcome to Behind the Genes. 


Rich: There’s a whole new era I see coming in terms of the
therapies that are directed at the causes of genomic conditions,
both in rare conditions and in cancer, and thinking as we do
that, about how we structure the system to generate evidence, and
to respond to it, and have a conversation about what the right
balance of evidence for patients to make a choice about their own
care. 


Helen: My name is Helen White and I am the Participant Panel Vice
Chair for Cancer, at Genomics England. On today’s episode I’m
joined by Dr Richard Scott, Chief Executive Officer for Genomics
England. And today we’ll be discussing Richard’s recent
appointment as CEO, lessons learnt from the last ten years in the
evolution of genomics in healthcare, and how these learnings will
be taken forward in the next ten years. And we’ll also visit the
importance of keeping participant and patient benefit at the
heart of research, as well as the ethical and safe storage of
patient data. If you enjoy today’s episode we would love your
support: please like, share and rate us on wherever you listen to
your podcast.  


Before we dive into the interview with Rich, I wanted to take a
moment to share my story and tell you a little bit about myself.
I have been a member of the Participant Panel at Genomics England
since 2018. It was the year before that when I was diagnosed with
endometrial, or womb cancer, and was offered the chance to join
the 100,000 Genomes Project, which felt like something positive
at what was otherwise quite a scary time. It turns out that I
have something called Lynch syndrome, that’s a genetic condition
that increases my chance of developing certain cancers,
particularly womb and bowel cancer, which is actually a really
useful thing to know as there are things I can do to reduce my
chance of getting cancer; things like having regular
colonoscopies and taking daily aspirin. I have now been on the
participant panel for six years and one year ago I was appointed
as Vice Chair for cancer. This is a new and developing role and I
am excited to have so far helped recruit more people with lived
experience of cancer to the panel and to be assisting Genomics
England with connecting to organisations that advocate for people
whose lives have been touched by cancer.  


So that’s enough about me. I am delighted to be joined today by
Richard Scott, and I am very much looking forward to our
conversation. Welcome, Rich.  


Thank you. So Rich, you’ve recently been appointed CEO of
Genomics England. Can you tell me a bit about your background and
what brought you to this role?  


Rich: It’s a really good question and it’s one that doesn’t have
a really very simple answer. I guess what it boils down to is I
guess I’ve always had an interest, even as a child, for whatever
reason, in genetics and genomics. I have also then always been
drawn to things where I can have an impact and particularly the
impact in healthcare and that’s what took me to being a medical
student. And I guess it’s that combination of that particular
interest in genetics and being able to see, even when I was at
medical school I qualified in 2000 that this was an area of
medicine that was going to be really important in the future. And
then as I trained, as I did a PhD and as I saw the technology
develop and change and then when I saw the UK government and the
NHS investing in genomics in a really foresighted way, I found
myself eight or nine years sitting at Great Ormond Street as a
consultant in clinical genetics where I still practice, I still
do one clinic a month there as a clinical genetics consultant
seeing families with rare conditions.  


But I could see when Genomics England was established that this
was something, as I said, really foresightful where we could
really collectively across the country make more of a difference
together in terms of patient and healthcare outcomes. So I joined
GEL eight or nine years ago initially in a subject matter expert
role, and really found myself the more time it passed,
understanding how working in my role at GEL and helping GEL be a
really productive part of what is a busy genomics healthcare
ecosystem in the UK, we can make a big difference, and that’s the
thing that just wakes me up in the morning, is realising how much
there is left to do, being proud of the stuff we’ve done, the
difference we’ve made to participants in our programmes already,
but realising that many of those still need our support to do
better and the big distance left to go before we really deliver
on I think the long-term promise of genomics, and I feel my
mixture of skills and experience make me really excited to be in
the middle of that.  


Helen: Thank you. Yes, it sounds like you’ve brought many skills
and experience, and interesting to hear that as a child you
already had that interest in genetics and where that’s taken you.
Can you tell me what being CEO Genomics England means for you?
What are your aspirations for your first year in this
position?  


Rich: Well, I guess, as you can tell, I’m really excited to take
on this role. As I said, as a doctor I’m always focused on the
impact for patients and our participants and ultimately it’s the
broader health of the nation. And the role I see Genomics England
playing and being able to play in the future, sort of building on
that, the leadership position the UK’s always had in genomics –
you know if you look back to the discovery of the structure of
DNA, the invention of sequencing technologies and also the
clinical implementation coming from that government investment
and the NHS investment, what excites me most about GEL is that we
can be there, playing a critical role alongside others in that
ecosystem, whether that’s in the NHS, whether it’s our
participants and the patients who we’re aiming to support
academia and industry, to create a whole that’s greater than the
sum of the parts, and I genuinely feel that the UK remains
uniquely placed to live out that potential that genomics has,
engaging in the questions, not just you know, the scientific
questions of: what could genomics test for? Or, how could this be
implemented and is it cost-effective? 


But also being able to have the nuanced conversation of what we
all and our participants in the public and general, expect in
terms of the care we receive or how our data is looked after, and
getting that really balanced view on how we chart a path forwards
where we can really see big differences being made in the future,
and I think always being honest to ourselves about where we are
today and that things don’t come in spotting some position a long
time in the future that we want to navigate to, but also being
really focused on the here and now and what is possible and what
is evidenced, and what the next set of evidence or discussions or
conversations in the public we need to have to help navigate
ourselves there and that’s where at the moment our focus at
Genomics England is both being very clear sighted on where
Genomics could go, and also thinking very clearly about where we
are today, and so very much at the moment for us it’s about
focusing on the life service we offer to the NHS and we’re really
proud to be part of a world-leading whole genome sequencing
service, the first national health service in the world to be
providing that in the context of cancer and rare disease, and so
offering and providing our service that contributes to
that.  


Supporting researchers so that we can keep the flow of
discoveries coming and also for example, making sure that our
participants in existing programmes continue to get new answers
as the science evolves. So, the last year more than 2,000
families had new findings fed back because of new knowledge
that’s accumulating, keeping that flow going. And then we’ve got
three big research initiatives going on at the moment where we’re
really focusing on delivering around them. We’ve got a diverse
data initiative where we’re really focused on making sure the
research library, the National Genomic Research Library, our
participants are representative of the UK population, so the
discoveries that we’re supporting are relevant to everyone; our
cancer initiative which is exploring the use of new sequencing
technology in the context of cancer, and also looking at the use
of image data and other modalities of data, alongside generic
data to drive new discoveries.  


And then the third initiative is our newborn genomes programme,
where we’re asking a big question through a research study to
generate evidence to ultimately answer the question: should every
baby when they’re born be offered whole genome sequencing? Most
pressingly to improve and broader the range of conditions that we
can look for that are severe and treatable. So, this year we’re
very much focused on delivering on those promises that we’ve made
to our participants and our partners and through those programmes
and very much with an eye to the future thinking about what we
need to change in terms of the use of underpinning technology, so
that we know that we’ve got the potential to scale, to think
about the broader use of genomics in years to come as evidence
evolves.  


Helen: So Rich, there have been many advances in genomics in the
last ten years. What do you think are the big lessons from those
last ten years, and what do you think the next ten years will
look like for the genomics ecosystem, what impact will this all
have on healthcare as we know it?  


Rich: So, genomics has changed extraordinarily in the last ten
years thanks to shifts both in the technology, particularly the
sequencing technology but also some of the computing technology
that’s there to deal with the scale of data. Ten years ago we
were talking about the 100,000 genomes project and beginning the
project itself, but it was still very early in the use of whole
genome sequencing, that’s gone from something where the big
question around the 100,000 genomes project was: can this
technology be used in routine care in cancer and for rare
conditions, and if so, how do we do that?  


And we’ve learnt both I think about that specific question and as
I mentioned, we’re enormously proud to be part of enabling the
NHS whole genome sequencing clinical service, so that has entered
routine care. I think along the way the biggest lesson for me is
actually one about this being about partnership and about working
as a team across many different organisations and with our
participants, and recognising that this isn’t just about one set
of questions, or it’s not just about clinical or scientific
questions, it’s about joining everything up together back to that
point around, so a discussion about what people expect – this is
about doing stuff together and learning often quite complex
lessons about practicalities is one things, for example, one of
the really big lessons we learnt around the use of whole genome
sequencing in cancer are just practical lessons about handling of
tissue samples and the need to make sure the right fridges are
available on the right corridor of a hospital, with plugs
available to plug them into, through to questions around, as I
say, people’s expectations around how their data is stored, which
it’s used for, which again there’s really strong precedent for,
and as we explored, different uses of genomic technology, we
shouldn’t just take those previous answers for granted, we need
to make sure we validate and check with people what their
expectations are.  


So I think that’s the big one for me is sort of the number of
different angles with which one explores questions and the fact
that this is very much about doing it together. I think just one
other piece which is so easy for us here to take for granted is
that doing things at national scale with national scale
investment from government, from other funders and from the NHS
is absolutely critical and when you look across the world, we are
in an extraordinarily privileged position here in this country
because of that investment and because that investment recognises
the need critically to join clinical care and research in a
whole, where you recognise that you’re doing multiple things at
once, but joining them up rather than them being two worlds, is
really, really critical, and we’re really lucky to be able to do
that at national scale.  


So then thinking about what the next ten years might look like
for the genomics ecosystem, I think lots of those things
continue, so I think national scale and the need for ongoing
investment to keep up our position at the forefront in terms of
answering these big questions about the use of genomics in
healthcare, and to where the evidence supports their
implementation to roll them out and keep that link there between
healthcare and research, and so making sure the systems talk to
each other and I mean that in a digital sense as well as a human
sense is absolutely critical.  


And then, so in ten years’ time what are the areas of healthcare
that will have been impacted, or could have been impacted by
genomics, I’m really pleased that we’re doing a better job for
families with rare conditions and people with cancer than we were
ten years ago, I think there’s a long distance left to run even
in those settings for us to do better and to continue to learn,
so we expect our major focus to continue to be in those areas
where we know they can have an impact and there’s more to do. We
also then have the different areas where if the evidence pans out
to support the use of genomics or if we can implement systems
that can support it there can be a big sort of area of growth.
For example, our newborn genomes programme is asking questions
and developing evidence so that in the future policymakers can
decide should that become part of routine care, and I think
that’s something that could have become part of routine care in
the next ten years if the evidence supports it and if that’s
something that the public support.   


If I were to pick one other area where there’s a real potential
for growth in the coming handful of years it’s in something we
refer to as pharmacogenomics. What that means is looking at your
DNA code (genomics) to help make decisions about prescription of
medicines and sometimes that’s about avoiding these medicines in
people who are at a higher risk of having an adverse reaction, or
it’s about tailoring the dose because of something about for
example the way the person metabolises, chews up, the medicine
and so can influence how much dose they need. That actually has
an enormous potential; we all have variations in our DNA code
that influence how we respond to or metabolise medicines. If you
look across primary care, GPs and so forth, primary care
physicians and in secondary care, hospital care, I think there’s
good evidence that actually probably half of all appointments,
interactions in those settings, if you were to have DNA data
available that could influence how prescription choices are made;
sometimes that’s about knowing that you’re doing the right thing,
giving the normal prescription, but sometimes it's about
modifying it, that’s an area where I think there’s a real
potential for growth and that’s an area that the NHS also really
recognise and we’re exploring ways in which we might look into
that and think about how that might be implemented, because
actually a lot of the questions there are about how you make sure
the right data, the right information is available to clinical
teams and patients at the time that prescriptions are being
made.  


There’s also real potential more broadly in thinking about more
common disease settings, there’s lots of work going on from
various research studies looking at the value of what people
sometimes refer to as polygenic risk scores or integrated risk
scores, where we use genomics as an element of estimating risk
for common diseases like heart disease or cancer, that’s
something where the evidence is being worked on and is
developing, I think we’ll see a lot of evidence come out in the
coming years and I think that will then influence how we
implement genomics to help as part of that risk estimation
process, which is routine now in GP practices where you go for an
NHS health-check they do it with lots of complicated stuff, at
the moment not genomics, and we’ll see how that plays out in the
years to come.  


So I think there’s enormous room for growth where genomics where
at the moment it’s making an important difference to people with
certain conditions that we can do better on. In the future I see
it becoming very much more part of the routine day to day of
healthcare. As we make that transition there’s lots to work
through about the evidence, the order in which that’s done and
the way in which we, for example, store data, and make people
part of the choice about how their data is used and what I’m
really excited about in Genomics England is the role we play in
the middle of that, bringing our particular expertise around what
we call bioinformatics, which is sort of managing genomic data at
big scale, particularly national scale to support healthcare and
research, generating evidence that can help inform policy, and
also critically drawing things together into the conversation
amongst different players in the ecosystem and participants in
the public so that we can not just think about evidence in a sort
of terribly scientific way but we think about it in the
round.  


Helen: That’s really interesting to hear you speak a lot about
getting that evidence because that’s critical, but that takes a
long time doesn’t it, so for example with the generation study,
the newborn study it’s really important to measure the benefits
of that if you’re testing young babies, newborn babies for
diseases that if you pick up a condition that condition can be
treated and something can be done about it early rather than poor
parents going through this diagnostic odyssey, but also it’s that
balance isn’t it with not leading to any harm, so if a number of
parents come out of that thinking their baby might get a
condition and it never happens there’s potential there isn’t
there. But I think in terms of the public understanding of how
long it takes to get evidence and everything else that needs to
go on in the background I don’t think it’s always particularly
clear that that’s a massive process that has to be gone through
and there’s a lot of work going on behind the scenes – you can’t
just do these things.  


I think as patients/members of the public we’re eager to get on
and for change to happen and things to be better but it’s a big,
big process, but also good to hear that you talk about it being a
collaborative approach, it’s not just Genomics England, it’s the
NHS, it’s members of the public and patient voices, it’s other
organisations working in partnership, it’s a big
undertaking.  


Rich: No, it is and I think that one of the words you used there
was impatience, and I think that’s healthy and important to
recognise, it can be easy, particularly for example as a doctor,
sat in a clinic room to accept the status quo, and at the same
time, one needs to recognise the complexity of the questions, the
balance, the need to generate high-quality evidence to inform
those opinions and I think combining both that sort of impatience
and dissatisfaction with the status quo, and that mind-set about
thinking really thoroughly and collaboratively about the right
evidence that is needed to change policy.  


Helen: Yes, really important that those patient voices are there
from the beginning, from the planning of obtaining this evidence
and that you’re measuring the things that matter
most.  


Rich: One of the areas where I think we’ve seen that play out,
another area where I really see the potential for growth in the
future is much more genomics-enabled treatments. We and you and
the participant panel have helped us think about there’s a whole
new era I see coming in terms of the therapies that are directed
at the causes of genomic conditions, both in rare conditions and
in cancer and thinking as we do that about how we structure the
system to generate evidence and to respond to it and have a
conversation about what the right balance of evidence for
patients to make a choice about their own care, but also
policymakers to make choices about funding, decisions and safety
decisions, is really important and we’ve been supporting to a
wider work in cancer in the UK called the Cancer Vaccine
Launchpad, and likewise we’re part of something we call the Rare
Therapies Launchpad, where in those two areas we’re exploring
that, and that’s another area I think of real potential in the
coming years, and also real nuance as we construct a way of
navigating that together and making the most of the potential,
but not just sort of rushing in and pretending we know all of the
answers at the outset.  


Helen: And those launchpads are of particular interest to
participants in the wider patient population, there are a lot of
people and children with rare, ultra-rare conditions who are
desperate for treatments that just aren’t available right now,
equally for cancer patients there’s a big need isn’t there for
more effective treatments, fewer side effects, that target that
person’s particular cancer, so it’s good news I think for the
wider public.  


It does seem that innovation and partnerships are crucial to
Genomics England’s activities so how does Genomics England ensure
that participant and wider patient benefit are at the heart of
these activities?  


Rich: I think one of the really important things is actually
governance is sometimes a boring word, sounds like it, but I
think thinking about how we’ve structured the organisation and
placed you, as the participant panel, as part of our governance
to make sure that when we’re thinking about for example access to
data in the National Genomic Research Library, participants are
sort of driving those decisions, it’s an independent committee
that makes those decisions with representation from our panel.
One of the things is thinking about the governance and making
sure that you as our participant panel hold us to account for the
decisions that we’re making, which I think is really
critical. 


I think then also as we’ve learnt a lot over the years, not
always getting it right, about how we make sure that
participants, or potential participants in the public are
involved from the outset in the design of programmes because it
always helps. I think certainly before I joined Genomics England
I think I would have been unsure about the best ways of going
about that and that brings with it sometimes a nervousness. I
think the main advice I would say to people listening is to have
confidence that just getting stuck in and have conversations is
the way to do it. There are then also all sorts of expertise that
we’ve really benefited from being to bear in terms of ways of
doing that engagement work and that will come; the first thing is
to have the confidence and the desire to put that at the centre
of how you decide where your focus should be and how you design
programmes.  


Helen: I think Genomics England has been very successful with
that by integrating that patient voice from the very early days
and here we are what eight years on I think now, and yes,
hopefully we’ll be there for some time to come yet, as long as
Genomics England exists.


So Rich, with more and more health data being stored, how do we
ensure that this sensitive personal data is stored and used
safely and ethically across the genomics ecosystem. And actually
while we’re on this question, can you just explain what genomics
ecosystem means, because we use that term I think quite a lot,
but I think it’s not necessarily understandable to the wider
public?


Rich: What I mean when I talk about it is I mean the mixture of
different people, whether that’s sometimes organisations, us,
Genomics England, the NHS, the NIHR, National Institute for
Health Research; industry partners whether they’re people who are
from pharma companies or from biotech, academic researchers,
participants in programmes – everyone who comes together to work
on genomics in the UK and a bit like the word as it’s used in
biology, it’s a sort of busy ecosystem with all sorts of people
playing their own role and then working together, and so I think
it’s a really important thing to recognise that we’re part of
that and in fact it’s one of the things I love most about my role
at Genomics England is thinking about all of the different
partners that we need to work with and to those outside it I
think it can also be a bit intimidating, because it’s hard to
keep up with who on earth everyone is.


So then thinking about the question of how we make sure that
data’s stored and looked after and used in the ways that people
expect and safely and so forth, I think that’s absolutely at the
heart of my role and our role. And I think one thing is actually
always sort of starting at the: why are we doing this? What
benefits are we seeking to bring to people? Is that what they
expect? What have they signed up for if you like? But that’s in a
research study or when they’ve decided to say yes to having a
particular test, which is the same in any part of medicine. And
if we use that to drive our decisions, that’s what’s so critical.
And so that’s where thinking about programmes we run, and also
the things that we think might be worth something that we should
prioritise in the future is always first driven by the benefit
that you might be bringing, weighing up the costs and the
potential downsides and harm that might be caused by the use of
genomic data in that way and that’s what should always drive
things, and there isn’t a one-size-fits-all, you know, genomic
data should be used and stored in this way and that’s one of the
things that I think making sure that participants and the public
are at the centre of the conversation is absolutely critical, it
turns out that genomic data is very much like health data at
large in many senses and it’s very precious for those reasons.


It is also special in a few ways. One of the ways that’s sort of
peculiar if you like is that pretty much the DNA sequence, the
genome, that you’re born with, is the same one that you hold
throughout your life, that’s different from say if you do a blood
count or something that varies for various reasons over your life
and most things in medicine do change quite meaningfully over a
much shorter time period. One of the things about the DNA code:
A) it makes it more precious because it’s very much about you,
your whole life; also it makes it more useful and reuseable in
many ways, so one of the things that we think about a lot more in
genomics is about the storage and reuse of data on an ongoing
basis through the lifetime. And I do think that that model in
certain settings and potentially more broadly as evidence
accumulates, may well be the path that we take forward where you
consider your genomic data part of your health record where it
can be used and reused.


And what we need to do is explore why you would in the first case
generate someone’s DNA sequence, and what sort of sequence, is it
a whole genome or less than a whole genome? What would you use it
for in the first place when you first generate it? And what other
uses could there be to support the healthcare and have you
involved them or the public more generally in decisions about how
it’s used? Because we do, as I said, see the potential for
genomics being just becoming part of the fabric if you like of
healthcare, good healthcare, the best healthcare.  


Linked to that is the point on research as well, like where
people are happy for it, holding their genomic data and
understanding how that impacts on longer term health outcomes,
something we’ll continue to learn about for years and years. So I
think the first point is about focusing on the why and whose data
it is, one’s own genome belongs to you, it doesn’t belong to
anyone else, what people are happy with and consent to and expect
and then always holding that in mind as one makes the choices is
critical. I’ve talked about how we think the governance and the
involvement of the participant panel is really critical for that
as well. And then it also comes down to doing in various ways,
the job that people would expect in terms of, for example, that
safety piece, using the very latest tooling to make sure that
it’s held in a secure way, that it’s backed up so that it won’t
be lost etc. and bringing sort of the right, very good minds
around some of those more technical questions, but always with
the expectations of the people whose genomes they are in mind and
to say are we living up to their expectations, are we doing what
they would expect?  


So, Helen, I wondered if I could ask you a couple of questions.
The first one I wanted to ask is what you’re hopeful for in the
coming years as a participant panel member?  


Helen: Thank you. I’ve actually already posed these questions to
some of the other panel members, so I’ll try and make sure I
include their responses here as well as mine, but I think it’s
important to hear from everybody, not just me, Rebecca Middleton
and Emma Walters have recorded their responses as well. I think
the four main things that panel members are hopeful for is the
coming years, the first is equitable access to whole genome
sequencing, basically everybody who needs whole genome sequencing
should get access to it regardless of where they live, their
income, ethnicity or disability, so that’s something that we’re
hopeful will get better over the years.  


We know this is essential to improving healthcare, to improving
outcomes for patients and generally for sort of greater
inclusivity and in genomic research, we want as well as Genomics
England, the data is the National Genomics Research Library to be
representative of the population as a whole, not just the people
who 1) are offered, and 2) agree to have their data in the
library. And also, obviously the more data that is held in that
library, the more opportunity there is for research across those
rare and ultra rare conditions and rare and less common cancers,
where it’s all about numbers, you need numbers of sets of data in
order to draw things together and make conclusions to look for
patterns. 


And the other thing which I guess comes more under the umbrella
of the NHS is that the panel is quite keen, they want everybody
who’s undergoing genomic testing to receive good support and
after care, I think regardless of whether that testing is via the
NHS or as part of a research study, sometimes it will be both,
but that’s for the patients at the coal face that is obviously
critically important. 


The second, I think broad theme, coming from the panel members’
responses is that I think you’ve mentioned this already, is
increased understanding of genomics amongst the general public is
really important – there’s a need to demystify genomics and to
generally improve public awareness of its benefits and to get
those conversations going around its regulation and its ethical
use, but to do that you need to get meaningful engagement from a
wide range of people, you know, that’s not always
straightforward, there are lots of challenges there, it’s all
about prioritising inclusivity, accessibility, to make sure you
get diverse views and perspectives on genomics and on genomics
research.  


The other thing that came out very strongly from the responses
which we have talked quite a bit about already is about this
individualised healthcare. I think we as a panel are very hopeful
that there will be this shift towards treatment strategies that
are tailored more to the individual and their specific health
condition, rather than a one-size-fits-all approach, we want
effective treatments that will minimise side effects but also
through the use of pharmacogenomics, to make sure if there’s a
risk of a severe, sometimes life-threatening side effect that
that can be identified and that individual doesn’t have that
treatment either at all or has a lower dose, so it’s not so
toxic.  


And let’s hear from Emma who talks about this. 


Emma: My hope is that we move to a truly individualised
healthcare system and I’m really excited to see how in particular
pharmacogenomics changes the healthcare landscape. For a long
time we’ve gone with a one-size-fits-all approach, and that’s
easy to deliver on a large scale basis that the NHS works on, but
we know fundamentally that’s not how patients work, so to be able
to consider individualising medication and knowing which won’t
work, interests and excites me.  


Helen: So the panel is also very hopeful about the development of
those innovative therapies, and you talked about the rare
therapies launchpad and the cancer vaccine launchpad, because
those offer real hope for treating previously untreatable
conditions and generally improving accessibility to treatments.
And we’re also hopeful that there will be a much better
understanding of diagnosis of cancer, through things like the
multi-model programme, because although there’s lots and lots of
research going on with cancer there’s still a long way to go to
have more effective treatments and to improve diagnosis of
cancer.  


And then just finally just in response to your question, patient
and public involvement, this is what the participant panel is all
about, we are a group of individuals whose lives have all been
touched by either a rare condition or by cancer currently, either
we’ve had that condition ourselves or it’s affected our loved
one, and we do bring these diverse views and perspectives to
Genomics England and I think we have a crucial role in
influencing its decisions about what it does with participant
data and who has access to that data. It’s critically important
that Genomics England listens to what matters to the people whose
data it holds and who do that, as Rebecca here explains. 


Rebecca: Genomics is a fast-moving science and it has the impact
to change lives and healthcare for future generations, but
genomics is a science of people and therefore the only way you
can truly understand the limitations and opportunities of it is
to talk eye to eye to the very people it will impact, and not
everyone will agree on everything. But how we understand genomics
and its power to transform healthcare, our own and that of our
children and the ones we love, can only progress at the pace of
the people that it will benefit. It’s a simple equation but it’s
not maths and indeed not science: we are all different and
unique, our emotions, experience and history will be wrapped up
in our viewpoints and thoughts, and that’s where the panel comes
in, representing and advocating for the very many different
voices of genomic healthcare, ensures Genomics England is
stronger, healthcare design is more meaningful and research is
more impactful. 


I have no doubt that the panel of the future will continue to be
heard and understood at Genomics England, and I hope it continues
to grow to reflect more diverse voices and experiences and
continues to be the people inside the science.  


Helen: Finally, the panel is also hopeful for increased public
and patient involvement in genomics research, this is integral
for shaping research both academic and commercial, it helps with
identifying research priorities, developing new treatments,
basically getting that voice of the patient in there to tell
researchers what’s the most important and what matters to
them. 


Rich: So another question Helen, how do the panel feel about the
changing genomics landscape?


Helen: A good question and I think overall it’s a balance between
excitement and hope on the one hand, and a bit of apprehension
and caution on the other. So the panel is really excited about
the advances going on in healthcare, we’re entering an age now
where we’re promised a much more proactive, as opposed to
reactive approach to healthcare. You were talking earlier Rich,
about having your genome sequence, and this is something that you
have for life, it’s like your passport, your fingerprint, so from
infancy to old age you’ve got this data which is held somewhere
which holds so much promise of predicting if you might develop a
disease, whether you might react badly to a drug, so ultimately
it offers great potential to improve outcomes for patients, their
families and the NHS. Again, we spoke earlier about this holds so
much promise for producing the diagnostic odyssey that so many
parents go through when the children are born with a condition
that doesn’t have a diagnosis, potential to diagnose things like
cancer a lot earlier where it’s more treatable and to prevent
disease as well, I know that’s something Genomics England isn’t
specifically looking at, but through screening programmes, using
things for example like circulating DNA which may be able to pick
up that there are things going on and picking things up earlier
means that those things can be dealt with earlier. 


I mean thinking of my own personal example, I know I have Lynch
Syndrome, I know that I am at risk of developing bowel cancer
now, but that means I can do something about it. So I have my
colonoscopies every two years, I take aspirin every day because
that reduces my chance of getting bowel cancers and I’m much more
symptom-aware, so having that knowledge up front is very helpful
in being able to move forward and reduce my chance of getting an
advanced cancer. 


The panel is also very excited about the ongoing collaborations
and the novel therapies that are being developed through the rare
therapies launchpad, these offer a lot of hope for treating
previously untreatable conditions, and improving accessibility to
treatments, and obviously more targeted treatments for cancer,
you know, we’d need more effective treatments for cancer but with
reduced side effects, so that in a nutshell, those are the other
positive sort of things that the panel feel excited about. Where
they’re slightly more apprehensive or concerned, I mean they do
acknowledge that there are challenges ahead and there are big
concerns about the NHS’s ability to cope with increase in demand
for genomic testing and particularly worries about education and
training of healthcare professionals in genomics, how do they
effectively communicate research findings or results to patients
if they don’t have a broad understanding of genomics? 


And then finally, let’s hear from Emma. 


Emma: I think I’m excited but cautious. I think it’s really
important to acknowledge that the research being undertaken is
groundbreaking and the vast majority of clinicians have very
little to know genomics education, and translating these findings
into tangible benefits for participants is so very important, and
something I think we’ve really got to make sure we don’t lose
sight of.  


Helen: We talked earlier about awareness among the public about
genomics and we do feel that there’s a need to drive education
forwards, you know but this is challenging, given the rapid pace
of developments that we’ve spoken about, I think even for the
panel members who I would say are relative experts in genomics
now it’s hard to keep up to date, so how do we do that moving
forwards? We’ve talked about security of data, we understand
there are moves to link more genomic data sets both nationally
and internationally and that clearly has significant benefits
because that brings bigger numbers of patients data together, but
opens up potential risks in terms of security, so how do we make
sure that the security of that data is as good as it is currently
when it’s held in one pot in Genomics England Research
Library.  


And just a couple of final concerns that were flagged by panel
members, there is some apprehension regarding potential misuse
with genomic data by insurance companies; we’re given a lot of
reassurance about that but there are concerns that could
potentially lead to the most vulnerable in society being unable
to get affordable cover if they’re found to have genomic changes
that mean they are at risk of conditions or have certain
conditions and there are also concerns about the ethical
implications of AI in diagnosis and clinical decision making, you
know, AI is obviously a fantastic thing for looking at patterns
amongst a big lot of data, but how accurate is it and where does
the human come in, in terms of decision making?  


So those are, I think, the broad concerns from the panel. I don’t
know if you have any thoughts on those, Rich?


Rich: I think the big thing to say is I think having the
participant panel there, you said in the middle of that, become
collectively quite expert and you recognise that. Having the
ability to have these complex nuance conversations and have
people share that and speak directly to us about it I think is
the biggest thing – lots of those points there made by the panel,
I think both things that we have very much in our mind about
things that one needs to balance and focus on, and there are also
things that we already talk about which is reassuring I think as
well, we talk about with the panel. I think one of the things for
us as well is sort of being clear on some of the things where
there are really clearly well-established red lines, for example,
that point on insurance, but that is very clear and part of our
role is making sure that that is there and people can feel
comfortable in that context to understand that. 


I think the main thing that I would say is thank you to you
Helen, and to all of the panel and all of our participants
because I said earlier, this is a team thing and you are all very
much part of the team and we would not be able to do our jobs in
any way, I wouldn’t even say effectively, I would say with the
relevance, which is the thing that we drive for, the relevance to
have impact for people’s lives whose data we hold and will hold
in the future. And so thank you for being part of the team.


Helen: Thank you. And I think thank you to Genomics England for
having the foresight to create the participant panel in the first
instance, it was there from the get-go and I think a really great
opportunity for all of us to be involved in this, to have our
voices heard and listened to, so thank you. 


We’ll wrap up there. Thank you for joining me today and thank you
for discussing your appointment as CEO for Genomic England, and
your view on what the genomics ecosystem might look like over the
next ten years. If you would like to hear more like this, please
subscribe to the Behind the Genes, on your favourite podcast app.
Thank you for listening. I’ve been your host, Helen White. This
podcast was edited by Bill Griffin at Ventoux Digital, and
produced by Naimah Callachand.