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.