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

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


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


 


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


 


You can download the transcript or read it below.


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


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


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


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


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


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


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


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


Amanda: Thank you.  And Helen? 


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


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


Amanda: Thank you.  Kelly? 


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


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


Amanda: Thank you.  And Rochelle, to you? 


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


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