Vivienne Parry, Louise Fish and Professor Matt Brown: Celebrating genomic breakthroughs - Insights from the Festival of Genomics

In January we saw experts from across the genomics ecosystem,
including patients and those with an interest in genomics, gather
at the Festival of Genomics - the UK's largest annual life
sciences event.


In this episode, our host, Vivienne Parry, Head of Engagement at
Genomics England, speaks to Louise Fish, CEO of Genetic Alliance
UK, and Professor Matt Brown, Chief Scientific Officer at
Genomics England, to discuss the event and emerging future trends
in genomics. 


In this episode you'll also hear some exciting future advances in
genomics research from some eminent speakers at the Festival:


Harold Sneider, Professor of Genetic Epidemiology, University
Medical Center Groningen sheds light on the "Identification of
methylation markers for Type 2 diabetes up to 10 years before
disease onset."

Nagy Habib, Professor of Surgery, Imperial College London,
delves into "The future of saRNA therapeutics and its potential
for treatment". 

Lennard Lee, National Clinical Advisor on innovation and
cancer vaccines, presents his perspectives on "The Future of
Cancer Vaccines," offering a glimpse into the promising
advancements in this critical field.



"The scientific breakthroughs that are being made are absolutely
incredible and they’re really exciting, but from the point of
someone living with a genetic condition, what they want to see is
those scientific breakthroughs making a real difference in the
clinics...For some conditions, it’s about treatments, but it’s
also about being able to get a diagnosis faster, to be able to
understand what condition is impacting on you, how it might
affect you over your lifetime and your wider family, and to be
able to work with NHS services to understand and plan for the
care and treatment that you’ll need throughout your lifetime."


 


You can download the transcript or read it below.


Vivienne Parry: Hello and welcome to the G Word.


The Festival of Genomics is the UK’s biggest genomics event, and
it’s become an essential part of our year. It’s free for 90% of
its delegates, it’s in person, and with more than 5,000 people
expected, it’s now so big that it’s had to move to ExCel’s
cavernous Dockland Halls. It’s the place to hear top science and
to spot new trends, but actually for me the joy of the festival
is the people you meet. Of course, it’s great to catch up with
old friends, but it’s the new collaborations sparked by random
encounters at the festival which I think are the lifeblood of the
genomics ecosystem, and everyone with an interest in genomics is
here, patients, clinicians from the NHS, researchers, industry,
policymakers, and the G Word.


What we thought we’d do is bring you a flavour of this great
event from the floor of the ExCel halls, and give you a quick
soundbite from three of the speakers that we felt best exemplify
the future of genomics. With me to discuss the event and future
trends in genomics, Professor Matt Brown, Genomic England’s chief
scientific officer, and Louise Fish, CEO of the Genetic Alliance
UK, which as its name suggests, is an alliance of over 200
organisations reflecting the needs and concerns of those affected
by genetic conditions. My name’s Vivienne Parry, I’m head of
public engagement at Genomics England, and I’m delighted to be
your host for today’s pod from the Festival of Genomics. Welcome
to you both. So, let’s start with you, Matt. How important is the
Festival of Genomics for genomics in the UK?


Matt Brown: Well, the Festival of Genomics has become a really
key meeting for the genomics community in the UK, and I think
increasingly in Europe as well. It’s a really large, high quality
event that brings together commercial and academic and biotech
companies in the one forum, and I think it’s a really exciting
programme.


Vivienne Parry: And of course, Louise, it’s open to patients as
well, which makes it an unusual event.


Louise Fish: Absolutely, and it’s brilliant to have patients and
families here. So, people living with genetic conditions clearly
need to be part of the debate when we’re talking about developing
new services, and developing new treatments and diagnostics, so
it’s absolutely fantastic to be able to come together in one room
with people from the NHS and the broader sector.


Vivienne Parry: And it’s grown enormously, and I guess that
reflects, as much as anything else, just how exciting genomics
is. Matt, I’m going to pin you to the ground [laughter] and say,
why is it so exciting in genomics at the moment?


Matt Brown: Look, the field’s really hitting its tracks. We’re
seeing advances in technology, analytics, application in the
clinical space, and of course booming commercial activity
associated with that. But from a situation ten years ago, where
we had research capability for using genomics to assist in
diagnosis and cancer profiling, now we’re in a situation where we
have multiple different approaches to assist with both of those
things, transcriptomics, proteomics, spatial, single cell
methods, optical mapping, a whole monopoly of different
technologies that have developed out of the research world but
are pretty close to being ready for clinical application. Of
course, in analytics, the rise of AI and the potential that has
for improving interpretation of genomes and improving
personalised medicine prediction in cancers and in multivariant
data, those are absolutely massive things. But aligned to that,
there’s also, you know, the growing worldwide application of
genomics in clinical spaces, of course led through the UK and the
NHS Genomic Medical Service, which has really shown the way for
the world about how this might make a difference.


Vivienne Parry: And Louise, that’s the really exciting thing is
we’re now seeing not just talk about therapies, we are seeing the
therapies for rare disease actually going into clinical trials
and into services even.


Louise Fish: Yeah, absolutely, and that’s why people living with
genetic conditions and their families want to see the change. The
scientific breakthroughs that are being made are absolutely
incredible and they’re really exciting, but from the point of
someone living with a genetic condition, what they want to see is
those scientific breakthroughs making a real difference in the
clinics. And that’s sometimes about treatments, you know. For
some conditions, it’s about treatments, but it’s also about being
able to get a diagnosis faster, to be able to understand what
condition is impacting on you, how it might affect you over your
lifetime and your wider family, and to be able to work with NHS
services to understand and plan for the care and treatment that
you’ll need throughout your lifetime. So, treatment’s one part of
it, but actually that ability to better understand what the
future will hold for you, and to plan ahead for the care and
support that you will need to live your life to the full is what
really excites people living with genetic conditions and their
families.


Vivienne Parry: Now, let’s hear the first of our three clips. The
programme is absolutely vast, but these were three presentations
that we just thought were terrific. Let’s hear the first one.


Nagy Habib: My name is Professor Nagy Habib. I’m a consultant
surgeon at Hammersmith Hospital, Imperial College, London. We are
going through a very exciting time, where we know what is the
problem with the diseases, and so far we couldn’t do anything
about it, but suddenly the door is opening and it all came with
the RNA vaccine, because we had to go very fast to get a vaccine
for covid, to protect the population, and that pushed the science
to go very fast, and now we can apply it to other areas apart
from covid, like cancer and rare genetic diseases. And these
therapeutics are what you and I and everybody else have received
during vaccination. There has been six billion injections around
the world, so you can imagine that everybody had an RNA
injection. And RNA is that molecule between our genome, the DNA,
and the protein. For anything to happen in our body, it requires
the protein, but there must be an RNA in between. In the past, it
was all about DNA, but now it is RNA. Why can’t we get a vaccine
against cancer?


And so now the field is growing very fast for a vaccine for
cancer. Now, the way we think about it is that we can have an
injection so that we don’t develop cancer of the prostate or
cancer of the breast and so on, but in actual fact today what we
can say is that if we take out a tumour with surgery, and we can
take the RNA from the tumour and inject it in the patient, the
early clinical trials tell us that this might work, and to stop
the tumour coming back. It is very important to make sure that,
once the tumour is out, it doesn’t come back. And I think there
is hope that we can have RNA vaccines in cancer. Now, to treat
cancer without surgery, still we have some way to go, but again,
now we know that the problem with cancer is that some of our
immune cells that are there to defend us from cancer, they change
their mind and suddenly they collaborate with the enemy. So
instead of helping us, they are destroying our immune system, and
we are developing drugs that can stop that from happening to our
immune systems.


Now, when you really think about what are the diseases that kill
people, cancer is definitely very high up. The second one, not in
a particular order, but cardiovascular system, we get heart
attacks and we die from heart failure, or we get stroke and we
die from stroke, and that’s because we eat too much. The food is
very tasty [laughter]. So, now we have injections, and the
injection can make us lose weight, and we lose weight very fast.
The problem is again it’s very expensive. Who can afford £600 a
week? And when you stop the injection, you put on weight again.
So, now we are working again with RNA, and we have found a way
where you inject only once every six months.


And then the final thing, which is really the dream of everybody,
is to stop Alzheimer’s disease. So, Alzheimer’s disease, as we
get old, there are toxic materials that are accumulating in our
brain cells, and only this year we’ve got two drugs coming along
that can help stopping Alzheimer’s disease at an early stage.
Now, what we need to do is to bring that it works on all types,
even the advance type of Alzheimer’s disease, and now there are
[inaudible 0:09:26] where we can take it from the nose. So, you
inhale it from the nose and it goes straight to the brain,
because there is sort of a motorway that connects the roof of the
nose with the base of the brain, which is very simple. It doesn’t
even need an injection in the arm vein. So, it’s all very, very
exciting.


Vivienne Parry: That is so fascinating. It’s real future casting.
Matt, I mean, I say it’s future casting, but tell me a bit about
the Rare Therapies Launchpad, because, you know, that picks up
some of what Nagy has outlined.


Matt Brown: Yeah, so DNA and RNA therapeutics are absolutely
booming, and that’s one of the big excitements is that we’re not
only being able to diagnose people, but we’re coming up with new
ways of actually providing treatments for patients with rare
diseases and cancers through nucleic acid therapeutics. For rare
diseases, the type of clinical trials that are involved are
really quite different, and you can’t just basically translate
what was used for common diseases into the rare disease space. It
just doesn’t work, and that’s really held back the field a lot.
So, to try and enable rare therapies to actually make that leap
from a research setting into actual clinical practice, Genomics
England, in partnership with the Medical Health Regulatory
Authority and others, have set up a Rare Therapies Launchpad, to
provide an end to end solution for people to be able to run
clinical trials for rare and ultra rare diseases, particularly
focusing on nucleic acid therapies, and linking that with both
the regulatory authorities and health funding authorities so that
we can get these ultimately into clinical practice. I think we
need these sorts of initiatives so that we don’t continue to see
rare therapies falling over because they’re being assessed and
made to go through the hurdles that common therapies do nowadays.


Vivienne Parry: So Louise, we really are in the area of what
people call N of 1 medicines.


Louise Fish: Yeah, absolutely. So, these are medicines that are
made specifically for one person and will help that one person,
and obviously that brings a whole heap of possibilities for
people living with genetic conditions, but also a load of
challenges that we understand for decision makers within the MHRA
and NICE and the NHS. And so I think there are some real
challenges that we’re really aware of from the decisions that are
already being made by those decision making authorities about
treatment. Obviously, putting it at the most basic level, you
don’t have the same evidence base for treatment that’s just
available for one person that you do from a clinical trial, where
thousands of people will have taken part in a trial to understand
how it affects a whole host of people.


So, we know that the decision making bodies are going to need to
take a different approach to evidence, so are going to need to be
willing to look at evidence that is just from a trial involving
one person. They’re going to need to be able to extrapolate the
benefits of that treatment across someone’s lifetime, and that
can be challenging, and we’ve seen that before in rare disease
medicines and the new treatments that have come along in recent
years. So, there are definitely some challenges, and we’re really
glad to see those challenges being acknowledged upfront by
Genomics England, the MHRA and others, and being debated and
discussed, and trying to find solution now rather than waiting
for those treatments to come along later, and then trying to
retrofit and decide how to manage them. So, it’s great to see
this debate taking place early, and we’re really keen to make
sure that the voices of people living with rare conditions and
their families are part of that discussion.


Vivienne Parry: And the really cheering thing that we’re hearing
from Professor Habib is that he thinks that the cost is going to
be much less, because some of these things, you know, have
million pound price tickets, so to have something that will be
cheap is really going to be I think the gamechanger.  


Louise Fish: One of the challenges with that is understanding the
lifetime costs of someone living with a genetic condition and all
of the complexities that are involved, and not just the medical
care that they need, but the social care and the wraparound care
that they’ll need, the extra support from schools and colleges,
the extra support from employers if they’re able to go in
employment. So, I think we’re constantly trying to help the
government and decision makers have a better understanding that
those lifetime costs of living with a genetic condition are the
things that should be taken into account when they’re making
decisions about a new treatment that could be totally game
changing for someone’s health and their future.


Vivienne Parry: Cheaper treatments on the way, Matt?


Matt Brown: So, I think we absolutely need to work on reducing
the costs of these treatments, because at the moment the costs
are so high that, were we to extrapolate that out to try and
treat the thousands to tens of thousands of different rare
diseases that there are out there, we couldn’t possibly afford
it. I think it’s very promising that we will get cheaper
treatments. This might come about through reducing the
development costs, in particular reducing the clinical trial
programmes, and the level of safety and efficacy evidence that
you require before you can actually make these treatments
available. I think that will make a massive difference, if we can
simplify that.


And another thing is, by better collaboration between the
different rare disease communities and genetic medical services
around the world, to make sure that what might be an N equals 1
condition in the United Kingdom, when you consider it around the
world, might actually be an N equals 100 people, and then
basically the cost per patient drops substantially. To achieve
that, we need much better coordination between the national
genomic medical services.


Vivienne Parry: At the end there, you heard talk of using RNA
therapies for obesity and Alzheimer’s, and we principally talk,
particularly in Genomics England, not just about cancer and rare
disease. But I wanted to present to you another presentation,
which I just thought was extraordinary, which comes from the
Netherlands, and it’s about picking up signs of diabetes using
genomics ten years in advance. Just listen to this.


Harold Sneider: Hi, I’m Harold Sneider, I’m a genetic
epidemiologist working at the University Medical Centre in
Groningen in the Netherlands, and my focus is on cardiometabolic
disease, and I have a great interest in hypertension, for
example, obesity, but also type two diabetes. So, one of my major
interests is to try and identify genes for common complex, mostly
cardiometabolic diseases, so our approach is to do genome-wide
association studies using genetics, but also epigenetics. And
epigenetics can be screened for so-called methylation markers,
and those methylation markers have an effect on expression of the
genes, and we can look at this all over the genome. Then a very
interesting question came up, whether these types of epigenetic
signals or methylation markers could actually be used to predict
disease in people that are still healthy.


So, the goal of this type of work always consists of two parts.
First, it’s that we try to find out which genes are highlighted
by these DNA methylation markers, because they are located at
certain positions on the genome, so we know which genes are
involved in those regions and we can learn more about the
underlying biological mechanisms that play a role in the
development of the disease. Because we found those signals up to
ten years before the disease occurred, so that tells us something
about changes that already happen at an early stage. It’s like an
early detection mechanism. At the same time, a combination of
these markers together lets you calculate what’s called a
methylation score that can be used for the prediction of the
disease, and the ultimate goal here is that even in healthy
individuals, when you have those measurements, you can calculate
such a score to improve the prediction and identify people with a
higher probability to develop such a disease. I definitely think
we can apply this general approach also to other – for example,
cardiometabolic diseases, such as coronary artery disease or also
hypertension.


Vivienne Parry: Harold Sneider there from Groningen. And
extraordinary, the idea that you might be able to pick up not
just diabetes perhaps ten years in advance, but also he was
talking about potential for other lifestyle diseases, like
cardiovascular disease, for instance. What are your thoughts
about that, Matt?


Matt Brown: Look, I think it’s always been an aspiration of the
clinical community to move treatments from treating patients with
established disease to actually working in really early or
preclinical spaces, where you’ve got a much better chance of
preventing end organ damage, and secondly you’ve got a much
better chance of actually inducing remissions or potentially
actually curing diseases. And I think not just in diabetes, but
also in a range of immune mediated diseases, there’s pretty good
evidence now that you can, by intervening early, really make a
massive difference to the natural history of diseases, and new
methods are coming about to identify those patients, be it
polygenic risk scores or other biomarkers, to enable us to sort
of flip the approach of medicine from being reactive to
pre-emptive.


Vivienne Parry: And rare conditions, as they do so often, Louise,
are leading the way in understanding the issues, which will then
spill out into a much wider area of the population.


Louise Fish: Yeah, absolutely, and rare conditions obviously is
the space that we work in. So, Genetic Alliance UK, as you say,
is an alliance of around 230 charities that support people
largely with rare genetic conditions, and many of those charities
are condition specific or look after groups of conditions, like
metabolic rare diseases. So, that’s the kind of space that we
come from, and obviously in our space, the excitement is around
the work that we’re doing with Genomics England around the
Generation Study, and trying to use that to understand whether
it's possible to screen babies to understand whether they have a
rare genetic condition, and if so to identify that condition and
intervene early. And again, excitingly, that’s not just about
treatment, it’s about whether there’s a way of helping that child
and their family, if you can identify very early to help really
improve their lifestyle choices. And one of the best examples we
have is identifying children with brittle bone disease, where if
you pick them up through screening, you’d be able to teach their
parents to handle them safely, so they didn’t have breaks in
their bones as babies, which is what we see now.


So from our perspective, it’s obviously different to the
polygenic risk scoring, but again it’s that idea of using
genomics as a way of identifying conditions very early, and
intervening before signs and symptoms start, to try and improve
the life chances of the person living with that condition, and
help their wider family to help them, which is really exciting
from our perspective.


Vivienne Parry: But the experience and knowledge that you’ve
gained as rare disease organisations actually is enormously
valuable to other people. I mean, rare has always been at the
forefront. I mean, in cancer, for example, it was chronic myeloid
leukaemia, which was a rare cancer, that kind of unlocked cancer
targeted treatments for everybody else. And it always seems to me
that rare is at the forefront. Although it’s often seen to be
behind, it actually is the key to unlocking so many other things,
and the experiences that you have all had are so valuable for
much wider populations.


Louise Fish: Yeah, absolutely, and one of the reasons we run
Genetic Alliance UK is so our member organisations can learn from
one another, ‘cos there’s always one of the rare patient
organisations which is surging ahead in a particular space, doing
something really exciting, doing something really new, and we try
and make sure that our members can learn from one another and
don’t have to kind of reinvent that wheel. But I know that spills
out into the wider cancer space and beyond, which is fantastic.


Vivienne Parry: And Louise, do you think there are particular
conditions which, if I can put it like this, are on a roll at the
moment, where genomics is really advancing fast for them?


Louise Fish: Oh goodness, that’s a really good question. There
are lots of conditions where genomics is making a significant
difference really quickly. For us, I think we go back to the
Generation Study, and at the moment we only screen in this
country for nine conditions, soon to be ten with the addition of
a new condition, but the Generation Study’s looking at 200
conditions and whether it’s possible to screen for them. And for
all of those 200 conditions, it’s a really exciting opportunity
to see if we can learn more, both about the potential to
understand and develop treatments early, but also just about the
chance to understand the natural history of that condition so
much earlier than we do at the moment. And I think that’s it,
it’s that understanding of the natural history of the condition
really early, and understanding how a family can be helped
through all the aspects of the condition, which is giving people
most excitement, I think, alongside the potential to develop
treatments.


And I know we talk about treatments a lot, but at the moment only
five percent of rare diseases have a condition specific treatment
available, so we really try and balance, within Genetic Alliance
UK, that hope for the small number of conditions that do have
treatments, which is really exciting, or have treatments in
development, and actually making sure that the scientific
breakthroughs in genomics are something that all conditions can
benefit from, whether there’s a treatment or not. The potential
for early identification of people with a condition,
understanding the natural history better, and wrapping a package
of support and care around people that is not just about a drug
itself, is really important to us and to all of our members.


Vivienne Parry: Matt, are you seeing any particular areas where
there’s a really rapid success?


Matt Brown: Look, I think there have been some absolute standout
successes in nucleic acid therapies in recent years. So, one is
the treatment of familial hypercholesterolemia, with siRNAs for
PCSK9, so the Inclisiran type approach, which has absolutely
revolutionised management of that disease. In recent times, I’d
highlight, for example, the treatment of sickle cell disease, an
absolutely massive global problem, and now we’ve got a therapy
which can really control sickling crisis and make a big
difference to a disease which isn’t just a disease of developed
countries, in fact it’s particularly a disease of Africa, of
course. On a global level, that’s just going to have a huge
effect.


But I think, yeah, I just would like to come back to that comment
you made about things starting with rare diseases. So, in
genomics, rare disease genomics has taught us a heck of a lot
about what drives common diseases as well, and to my mind, gold
dust for drug development companies is where you have genes that
are associated with both rare and common forms of the same type
of disease. And that tells you that basically you’re very likely,
through your treatment, to be able to actually influence the
disease, and that it will influence a large proportion of
patients with the disease. So, I’m really enjoying seeing this
division between rare diseases and common diseases broken down a
little bit, and a lot more learning in therapies going from one
to the other.


Vivienne Parry: Let’s move to a completely different area, one
that’s very important to Genomics England and less important,
Louise, at the Genetic Alliance UK, which is cancer. We’re going
to hear from Lennard Lee about cancer vaccine.


Lennard Lee: I’m Dr Lennard Lee, I’m a medical oncologist, so I
practice as an NHS doctor, treating cancer, and I’m an associate
professor at the University of Oxford. We’ve come to a position
whereby vaccines can be developed quicker than anyone thought. In
the last few years, we’ve realised that the technology has moved
on rapidly, MRNA technology, and you can make vaccines and update
them really, really quickly. We’ve now come to a situation where
vaccines can be made against cancer, and this is where genomics
is really starting to supercharge this technology. If you can
sequence a cancer then what we’re finding now is that the
technology now exists for you to print off an MRNA vaccine for
that patient, a truly personalised product. And it’s amazing
because the genetic basis of the cancer, what the genomics
sequencing shows then becomes a vaccine itself. The vaccine is
designed based on that sequence, and that’s why genomics has
really supercharged this field of vaccinations for cancer.


One of the possible things we just need to clarify and be aware
of is that when people talk about cancer vaccines, they mean a
number of things. Ultimately, what it involves is getting a new
treatment for people with cancer, because it’s based on their
genetic sequence, so it’s used to treat people with cancer. The
future’s an exciting one, truly personalised medicine based on
genomics. Genomics is going through so many different phases in
the field of cancer. Firstly, we were starting to understand why
cancer happened and what patients outcomes were. The second phase
started to kick off where genomics would help patients select the
right drugs at the right time for them, which is amazing. And now
we’ve entered the final evolution of genomics, where it now
becomes the actual drugs that we treat people with. And cancer
vaccine is one of the first potential areas where genomics will
start to form the basis of the treatments going ahead. In five
years’ time, we’re going to know if it works or not, where an
individual vaccine based on the genomic abnormality seen in that
cancer is going to give better outcomes for patients than an off
the shelf product.


We know that every cancer’s different, so genomics has showed us
this, but all of a sudden that sequence could become that
vaccine, which then primes that immune system, truly personalised
therapy. And it is so exciting that we’re going to be talking
about this in this festival, and it’s being driven as from the
UK, which has got so much strength in terms of genomic
capabilities as we’re developing vaccines.


Vivienne Parry: So Lennard Lee there, absolutely confident of the
importance of cancer vaccines. Matt, what are your thoughts on
that? 


Matt Brown: I think it’s a tremendously exciting field. The early
data on cancer vaccines with melanoma, for example, showed that
for a cancer which previously had been resistant to virtually all
of our approaches, is actually quite responsive to novel cancer
vaccine approaches. We are yet to see across what diversity of
cancers this is actually going to work, so there’s clearly a huge
clinical trial programme that’s going to be required to drive
this, and the UK is playing a really central role through the
Cancer Vaccines Launchpad that Lennard’s involved with running,
in creating the evidence base about whether these are going to
achieve the promise that they hold.


I also think that they’ve got a lot of possibility for inherited
cancer types. For example, I think the programme’s looking at
cancer vaccines for Lynch syndrome, to try and prevent colorectal
cancer in that group of patients. So, I think they’ve got lots
and lots of opportunities, and it’s nice to see something
positive actually coming out of the pandemic like this, for what
was a pretty bleak episode worldwide otherwise.


Vivienne Parry: They are a small part, I know, of your
organisation, Louise, but in some ways, those people with
inherited cancers in their families are seeing the benefits of
genomics on both sides, both in that earlier diagnosis, picking
up right from the very beginning, and of course in the promise of
these new treatments.


Louise Fish: Yeah, absolutely, and you’re right, it’s a small
part of our remit. We do have some organisations in our
membership who specifically support people with rare inherited
cancers, and we work very closely with an organisation called
Cancer 52, who also represent organisations with rare cancers.
I’ll just give them a quick shoutout in case anyone listening is
not aware of them and their amazing work. But you’re right, I
think there are a couple of things going on that are really
exciting in the cancer space. It’s that ability to better
understand why some people are likely to inherit cancers, how
that pattern works within families, and to support those families
and help them understand like the risk that they have, and to
make informed decisions about their own treatment and care in the
future. And also about whether they want to have children, and if
they do want to have children, kind of how they want to approach
that to try and reduce the risk of passing on that heritability.
So, that’s a really important part for everybody. I think there’s
also potential to develop new treatments, which is absolutely
amazing and really exciting, and it is really exciting to hear
about the potential for cancer vaccines.


The other area where I think people living with inherited cancers
are interested to find out more is what impact it might have on
better understanding which treatments will work for which people.
And we know, for example, that there are some cancer treatments
that only work for one in four people with that particular kind
of cancer, but it’s been really hard to understand why that’s the
case. And I think the potential for genomics to identify which
people could benefit from a particular cancer treatment would
have two huge benefits. A, cancer treatments, many of them are
really horrible, you know. They’re horrible things to go through,
and if you had a better confidence that a particular treatment
was going to work for you because of your genetic makeup, that
would make you a lot more confident about deciding to try that
treatment, and taking on board the side effects of the treatment
and how it’s going to impact on you.


That would also obviously massively impact on the cost
effectiveness of that treatment. At the moment, we might give it
to four people and only one of them would benefit, but you’re
paying for the cost of giving it to all four people. If you could
identify in advance which people were more likely to benefit then
you’d give it to fewer people, they’d be more likely to benefit,
and the cost would come down. So, I think that there is real
potential in this field of genetics and genomics to help in all
kinds of ways that people living with these conditions are really
excited to see and explore.


Vivienne Parry: So Matt there, it’s not of course simply about
identifying, you know, what the cancer is like and its genomic
makeup, but actually it’s that wider field of pharmacogenomics,
which is a big feature of the programme at the Festival of
Genomics this year. And we’re very much involved in that, aren’t
we?


Matt Brown: Yeah, we are. So, pharmacogenomics is one of those
areas where genomics is about to make a big difference in
clinical practice. What we’re hoping to get to is the point where
we have people who are not yet treated with a medication actually
already have the genetic profiling done, so that when they go to
a general practitioner or a physician and be prescribed a
medication, the data will already be there to say what the
appropriate dose should be, and whether they’re at risk of
getting adverse reactions to those medications, so we could avoid
them or use alternate medications. So, that sort of pre-emptive
pharmacogenomics is just over the horizon, and if we can achieve
that, we’re going to significantly improve patient care and
reduce the risk of adverse drug reactions, which are a major
cause of morbidity and hospital admissions not just in the UK but
worldwide.


Vivienne Parry: So Matt, perfect segue into our next question,
which was, you’ve already identified one area which you think is
going to be big in the next few years. You’re both absolutely in
the centre of the genomics ecosystem. What do you think we’re
going to be seeing at next year’s Festival of Genomics? What do
you think is going to be the big thing that’s coming up on the
inside rail?


Matt Brown: So look, I’d like to say what I think’s going to be
in next year and what I think’s going to be in ten years. Next
year, I think the big things are going to be advances in AI and
genomic analytics. That’s really ramping up fast, and I think
we’re going to see it in clinical implementation a lot more next
year. I think the cancer therapy vaccines are going to be really
big next year, as are nucleic acid therapies. Multiomics for rare
disease diagnosis and cancer personalised medicine, I think is
also ramping up very fast. In ten years’ time, the two areas that
we’ve not discussed so far where I think genomics is going to
make a big difference are going to be in infectious diseases and
in pathology services. In infectious diseases, genomics I think
has a fair chance of replacing to a large extent culture based
practice, or serology based diagnosis of infectious diseases,
which will be done by sequencing instead. And that will be a
massive change to the practice there, because you’ll be able to
rapidly work out, even if people have been treated with
antibiotics already, what the infections are and what the likely
treatment responses are going to be.


Louise Fish: So from my perspective, next year what I hope to see
is people getting just as excited about the differences that some
of the technology we hear about this year are actually making
when they’re being applied in clinical practice. So I think from
my perspective, it’s all about that move from being excited about
the science to seeing people just as excited about the difference
that science is actually making when it’s benefiting people
living with rare conditions and their families through clinics
across the UK and the NHS. Next year, I’d like to hear that
excitement when people are talking about how it’s actually
affecting real lives. In ten years’ time, I hope we’ll be talking
about the massive difference that some of the amazing techniques
we’ve heard about here this year have made to the lives of people
living with genetic and rare conditions.


So, you know, in ten years’ time, I hope that some of the
treatments and the opportunities and the tests we hear about
today, we can see how they’ve affected the natural history of the
condition across ten years of lives, and that we can really see
that people are living their lives to the full as a result of the
fantastic technological breakthroughs that we’re hearing about
today.


Vivienne Parry: Fantastic. It’s been great to talk to you both,
and it has been a fantastic festival.


Vivienne Parry: So, thank you to you again, and also thank you to
Frontline Genomics, who organised the Festival of Genomics,
because it really has been a wonderful, wonderful event. And if
you’re interested in things genomic, you can subscribe to the G
Word on your favourite podcast app, and if you’re new to our
podcast, and we always welcome our new listeners, do check out
our back catalogue. You’ll find it’s really extensive. There’s a
wonderful set of genomic listening available to you, in which
even spatial transcriptomics gets explained. I’ve been your host,
Vivienne Parry. This podcast was edited by Mark Kendrick at
Ventoux Digital, and produced by Naimah Callachand, and it's very
good to have had you with us. Bye for now, and hope to see you at
the Festival of Genomics next year.