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 75th
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.