Professor Sir Jonathan Montgomery, Dr Latha Chandramouli and Dr Natalie Banner: Why do we need to consider ethics in genomic healthcare and research?

Ethical considerations are essential in genomic medicine and
clinical practice. In this episode, our guests dive into the
details of ethical principles, highlighting how they can be
brought into practice in the clinic, whilst considering the
experiences and feelings of patients and participants.


Our host, Dr Natalie Banner, Director of Ethics at Genomics
England, speaks to Professor Sir Jonathan Montgomery and Dr Latha
Chandramouli. Jonathan is the Chair of the Genomics England
Ethics Advisory Committee, and a Professor of Health Care Law at
University College London. Latha is a member of the Ethics
Advisory Committee and the Participant Panel at Genomics England,
and is a Consultant Community Paediatrician working with children
with complex needs.


 


"You asked why ethics is important and how it operates, I suppose
the main thing for me is that these are tricky questions, and you
need all the voices, all the perspectives, all the experience in
the room working through at the same time. You don’t want to have
separate discussions of things."


 


You can download the transcript or read it below.


Natalie: Welcome to Behind the Genes.  


Jonathan: The first difference is that the model we’ve
traditionally had around clinical ethics, which sort of assumes
all focus is around the patient individually, is not enough to
deal with the challenges that we have, because we also have to
understand how we support families to take decisions. Families
differ enormously, some families are united, some families
have very different needs amongst them, and we have to
recognise that our ethical approaches to  genomic issues
must respect everybody in that. 


Natalie: My name is Natalie Banner and I’m the Director of Ethics
here at Genomics England. On today’s episode, I’m joined by Chair
of our Ethics Advisory Committee, Professor Sir Jonathan
Montgomery and Dr Latha Chandramouli, member of the
Ethics Advisory Committee and the Participant Panel, who’s
also a community paediatrician working with children with
complex needs. 


Today we’ll be discussing why ethical considerations are crucial
in genomics research and clinical practice and what consent
means in the context of genomics. If you enjoy today’s episode,
we’d love your support. Please like, share and rate us wherever
you listen to your podcasts. 


At Genomics England, we have an Ethics Advisory Committee, which
exists to promote a strong ethical foundation for all of our
programmes, our processes, and our partnerships. This can mean
things like acting as a critical friend, an external group of
experts to consult. It can mean ensuring Genomics England is
being reflective and responsive to emerging ethical questions,
especially those that arise as we work with this really complex
technology of genomics that sits right at the intersection of
clinical care and advancing research. And it can also ensure that
we are bringing participant voices to the fore in all of the work
that we’re doing.  


I’m really delighted today to welcome two of our esteemed members
of the ethics advisory committee to the podcast. Professor Sir
Jonathan Montgomery, our Chair, and Dr Latha Chandramouli, member
of our Participant Panel. So, Jonathan, if I could start with
you, could you tell us a little bit about your background and
what you see as the role of the ethics advisory committee for us
at Genomics England? 


Jonathan: Thanks very much, Natalie. My background professionally
is I’m an academic, I’m a professor at University College London,
and I profess healthcare law the subject that I’ve sort of had
technical skills in. But I’ve also spent many years involved in
the governance of the National Health Service, so I currently
chair the board of the Oxford University Hospital’s NHS
Foundation Trust.  


I’ve spent quite a lot of time on bodies trying to take sensible
decisions on behalf of the public around difficult ethical
issues. The most relevant one to Genomics England is I chaired
the Human Genetics Commission for three years which was a really
interesting group of people from many backgrounds. The commission
itself primarily combined academics in ethics, law and in
clinical areas, and there was a separate panel of citizens think
grappling with things that are really important. Genomics England
has a bit of that pattern, but it’s really important that the
ethics advisory committee brings people together to do that.


You asked why ethics is important and how it operates, I suppose
the main thing for me is that these are tricky questions, and you
need all the voices, all the perspectives, all the experience in
the room working through at the same time. You don’t want to have
separate discussions of things. My aim as Chair of the advisory
committee is essentially to try and reassure myself that we’ve
heard all the things that we need to hear and we’ve had a chance
to discuss with each other as equals what it is that that leads
us to think, and then to think about how to advise within
Genomics England or other people on what we’ve learnt from those
processes. 


Natalie: Fantastic. Thank you, Jonathan. And as you mentioned,
the necessity of multiple different perspectives, this brings me
to Latha. You have lots of different hats that you bring to the
Ethics Advisory Committee, could you tell us a little bit about
those? 


Latha: Thank you, Natalie, for that introduction. I’m Latha
Chandramouli, I’m a Consultant Community Paediatrician and I’m
based in Bristol employed by Siron Care & Health. I’m a
parent of twins and from my personal journey, which is how I got
involved, my twins are now 21 so doing alright, we had a very,
very stormy difficult time when they were growing up with our
daughter having epilepsy, which just seemed to happen quite out
of the blue sometimes. It started to increase in frequency the
year of GCSE, to the point that she would just fall anywhere with
no warnings and hurt herself. This was difficult for me because
as a clinician, I was also treating patients with epilepsy. I
also was looking at the journeys of other people and was able to
resonate with the anxiety as a parent. Worry about sudden death
in epilepsy, for example, at night, these were the kind of
difficult conversations I was having with parents, and I was now
on the other side of the consultation table. 


I was also doing neurology in those jobs in a unit where there
was epilepsy surgery happening, so it was, in very simple terms,
very close to home. It was quite hard to process, but equally my
job I felt was I should not separate myself as a parent but also
as a clinician because I had information, I had knowledge, and we
had conversations with my daughter’s clinician.  


We were then recruited into the 100,000 Genomes Project which had
just started, so we were just a year after it had started. That
was an interesting experience. We were in a tertiary centre with
a lovely clinical geneticist team, we had the metabolic team, we
had loads of teams involved in our daughter’s care. We could
understand as a clinician, but there was also my husband,
although a clinician, not into paediatrics and was in a different
field. It was important that it was the whole family getting
recruited into the journey. My daughter also was quite young, so
obviously we have parenting responsibility, but we were very keen
to make sure they knew exactly what they were getting into in
terms of the long-term issues. Despite being informed, at times
there were things that we went in with without understanding the
full implications because life happens in that
odyssey.  


I think that was my biggest learning from those exercises when I
began to question certain other things because I then had a
breast cancer journey, but obviously I was not recruited as part
of that process for the 100k. Those were kind of some of the
questions coming in my head, how does the dynamic information
sharing happen, and that’s how I got involved, found out a bit
more about the participant panel, and that’s how I got involved
from 2018 which has been an interesting experience.  


Firstly, I think with Genomics England they are probably one of
the groups of organisations having a big panel of people,
genuinely interested in wanting to make a difference and
represent thousands of participants who have got their data saved
in the research library, recruited under the two broad arms of
cancer and rare disease. We were under the rare disease arm,
although I could resonate with the cancer arm because of my own
experience. 


At various times there were lots of opportunities to think about
how data is accessed, are we getting more diverse access to data,
all those different issues. At various points we have been
involved in asking those questions. We all have different
skillsets, you see, in our group. Some have got information
governance hats; some have got data hats and PR hats. I’ve got a
clinical hat and a clinical educator hat. I am a paediatrician,
so I have recruited people for the same, for the DDD, for CGH
etc, and I’ve always gone through the principles of consenting,
confidentiality, the ethics. I also work in a field, Natalie,
where there is a huge, as you are aware with the NHS resource
issues, there’s huge gaps and waiting lists, so it’s trying to
make sense of what is the best thing to do for that patient or
that family at that point in life. Are we obsessed by a
diagnostic label? Are we going down a needs-based approach? It’s
having always those pragmatic decisions to be made. That’s one of
my clinical hats. 


I also am an educator so I’m very keen that young medical
students, be it nursing students, everybody understands genomics
and they’re signing up to it so that we can mainstream genomics.
Those are some of my alternative hats which kind of kick in a
bit. 


Natalie: Fantastic, thank you, Latha. As you say, there are so
many different perspectives there. You talk about kind of the
role of the whole family as part of the journey. You talked about
consent, confidentiality, data access issues, lots of questions
of uncertainty. Perhaps, Jonathan, I can come to you first to
talk a little bit about what is it about the ethical issues in
genomics that may feel a little different. Are they unique or are
they the same sorts of ethical issues that come across in other
areas of clinical practice and research? Is there something
particularly challenging in the area of genomics from an ethical
perspective?


Jonathan: Thanks, Natalie. I think all interesting ethical issues
are challenging, but they’re challenging in different ways. I’m
always nervous about saying that it’s unique to genomics because
there are overlaps with other areas. But I do think there are
some distinctive features about the challenges in genomics and I
suppose I would say they probably fall in three groups of things
that we should think about. The first you’ve touched on which is
that information about our genomics is important not just for the
individual person where you generate that data but it’s important
for their families as well. I think the first difference is that
the model we’ve traditionally had around clinical ethics, which
sort of assumes it all focuses around the patient individual, is
not enough to deal with the challenges that we have, because we
also have to understand how we support families to take decisions
and families differ enormously. Some families are united, some
families have very different needs amongst them, and we have to
recognise that our ethical approach is genomic issues must
respect everybody in that, so I think that’s the first
difference. 


I think the second difference is that the type of uncertainty
involved in genomics extends much further than many other areas.
We’re talking about the impact on people’s whole lives and it’s
not like a decision about a particular medication for a problem
we have now or an operation. We’re having to help people think
about the impact it has on their sense of identity, on things
that are going to happen sometime in the future.  


And then thirdly, I think the level of uncertainty is different
in genomics from other areas of medicine, and the particular
thing I think is different that we have to work out how to
address is that we can’t really explain now all the things that
are going to happen in the future, because we don’t know. But we
do know that as we research the area, we’re going to find out
more. So, what are our obligations to go back to people and say,
“we worked with you before and you helped us out giving data into
the studies. We couldn’t tell you anything then that would be
useful to you, but actually we can now.”. Now, that’s different.
That continuity sometimes talked about, you know, what are our
obligations to recontact people after a study. You don’t usually
have those in the ethical areas we’re familiar with; you’re
usually able to deal with things in a much more focused
way.  


I think those differences, that it’s not just the individual,
it’s the family, that it’s not just about a specific intervention
but it’s about an impact on people’s lives and that we will need
to think about what we had to do in the future as well as what we
do immediately. They make it different in genomics. Some areas of
healthcare have those as well, but I’m not aware of anywhere that
has all of that in the same position. 


Natalie: Latha, I’m wondering if that kind of resonates with your
experience, particularly the navigating of uncertainty over
time? 


Latha: Yes. I would say that’s exactly what you’ve said,
Jonathan. I think it’s the whole process of consenting with the
view that you do not know much more beyond what you know about
the situation here and now. Part of that is like any other
situation, that’s why we have evolved from I would say penicillin
to the SMA gene therapy. If we did not do this, we wouldn’t reach
frontiers of medicine and kind of that’s how I explained to
families when I’m recruiting and I’m also very clear that it’s
not all about research but it’s combination of the tool and
focusing on your, but it’s also helpful for research even if you
do not get answers. I think it’s very important at that stage,
Natalie, that we have to be clear we may not get many answers at
the very outset and also when do we really look at data, do we
have that kind of realistic pragmatic resources to be able to
relook every time? Is there a method of dynamically having that
information from our NHS spine if somebody of the trio has
contracted a condition, would that be fed in.  


Those are the kind of questions parents and families ask. I
cannot honestly answer that, and I often say that is optimal
plan. If things go to plan, that will be the area we’d be heading
towards, but currently I can’t give you timelines. I think it’s
important we are honest at the outset and manage expectations.
That’s how you engage families and, in my case, it’s more these
children and families, so engaging is crucial. As you mentioned,
it’s also the question that gets asked is very simply in my mind,
you know, sometimes there is that conflict because of my own
personal recruitment to the 100k project, I have an interest in
genomics and, therefore, I would be very keen to embark on that
journey and I feel that is the way forward.  


I also understand as a member of my clinical team, for example,
where I know there’s a huge waiting list, how am I best using the
taxpayers’ money that’s been entrusted to us. If I think the
waiting list is so high, can I see two further patients in that
time that I’m using to consent which is not going to add much
more to that child’s journey, for example, with autism or ADHD.
It’s trying to be careful where is the ethics in doing an
investigation, and that’s like in any situation as a clinician. I
think that’s not much different, but it is kind of similar, but
it opens up a huge area of uncertainty. As you would with any
investigations, if you just went and did scans on everybody, you
might pick things up which you don’t need to do anything about.
It’s being sensible and being honest. 


Jonathan: And for me, Latha, that raises two areas which I think
are really interesting about genomics. The first of those is the
language we’ve tended to use about consent I don’t think captures
all the ethical issues that we raise, because we’ve tended to
think about consent of something that happens once and then gives
people permission to do things. Whereas what you’ve described,
and what we find ourselves often thinking about, is that we have
to get a respectful relationship with people, so the consent is
not to doing certain things, it’s to agree to part of what I
think about as a common enterprise. So, patients and families are
partners with the clinicians and the researchers, and it’s not
that they sign a form and then the consent issue goes away, which
is how lawyers tend to think about it, it’s that we’re starting
something together and then we need to think about how do we keep
the conversation going with mutual respect to make sure that
everybody’s values are there.  


I think the second thing you picked up is a sense of the need for
a better explanation of how research and care interact with each
other. Because the care we get now is built on the evidence that
people have contributed to in the past, so we’re benefitting from
our predecessors, and we want to contribute to our successors and
our family getting better care in the future. I think one of the
things about genomics is that the gap between those two things is
really non-existent in genomics, whereas if you take a medicine,
the research that’s been done to make sure that medicine is safe
and effective will have been done on a group of people some time
in the past that I’ll never meet, whereas in genomics I’m part of
the production of that. I may get some benefit now, my friends or
family may get some benefit, but there isn’t this sort of
separation between the care and the research bit that we’re used
to being able to think about. This is a much more mutual exercise
and the stakes that we all have in it are therefore intertwined
much more closely than they are in some areas of medicine. 


Latha: I agree totally. In our case, for example, I went in in
thinking we might get a targeted medication. I know there are
certain levels of epilepsy medications anyway, so in principle it
wouldn’t have mattered a lot. However, it was important to know
what the outcome was going to be because we had various labels,
potential mitochondrial disease, potentially some susceptibility
disorder, so we were on a spectrum from something very minimal to
the other end on neurodegenerative situation. We were left
dangling and we thought it would be good to embark on this
journey, at least there’ll be some outcome, some prognostic
outcome, and more importantly we don’t have any answers, but we
actually can be a hopeful story for someone else in that same
position, and I think that’s how we’ve embarked on it. That’s
kind of my personal experience.


But in just harking back to some of the ethical issues, it’s
again very clear educating the clinicians, as you said, it’s that
relationship; it’s not just a piece of paper, it’s that
development of relationship with your families, some of whom have
got very complex issues going on in their lives themselves. I
work in a very, very deprived part of Bristol, which is the
highest deprivation index, so they have got lots of
intergenerational things going on, there is poverty, there is
learning issues and crime, lots of things going on. You’ve got to
time it right, what is important for this family here and now,
and then work on it.


There’s also the other issue that we may not continue to remain
their clinicians after recruiting. I think that’s so important to
recognise because the results might come back but you kind of
discharge them and it may take a few years by the time the
results come. How do you then cross that bridge if some
unexpected results come, which then means contacting various
other extended family members. I think that’s the bit we all do
because that’s part of the journey we’ve embarked on, but it’s
also thinking is there someone else who’s probably better placed,
like a GP or a primary care person who’s actually holding the
entire family and not just one person, not just the adult who has
been the index patient. It’s just trying to think the ethics of
it because it’s all about engagement and being transparent with
families. 


Jonathan: I think you’ve put your finger on another element
that’s really important about the ethics. In the same way as in
relation to the position of the individual patient, and we need
to see them in families, which doesn’t fit very easily with lots
of the clinical ethics that we’ve been used to. It’s also the
case that a lot of the traditional clinical ethics has focused on
the individual responsibilities of clinicians, whereas what
you’ve just described is that we have to work out what the
system’s responsibilities are, because it may not be the same
clinician who is enabling good ethical practice to be pursued.
These are both ways in which our paradigm of ethics has to be
expanded from other areas of medicine. 


Latha: Yes, I agree. And the other bit I think we can probably
reassure quite nicely is about the ethics about information
governance and we as data custodians storing information, how do
we give with great ethics and discussion the access to research
and being mindful that it is again thinking along the same
principles GMC kind of had about the good for the common good and
using resources equitably, but again being sensible with equality
issues that a single condition doesn’t get forgotten. It’s that
right balance that whilst we are doing common good, we might have
a condition which might have a treatable medication, but we have
to focus on that as well as research. I think it’s interwoven,
all these ethical questions. 


Jonathan: I completely agree, Latha. That interwoven bit is
something where we need to be able to think through, “what is the
role of Genomics England to improving that?”. I think we’ve got
issues around the good stewardship of information which can’t be
left with an individual clinician, they can only do that
effectively if the system supports them and their colleagues in
doing that. But we’ve also got to be proactive, we’ve got to
recognise the limitations of the system, so one of the really
important initiatives from Genomics England is the Diverse Data
initiative because we know that without aiming to solve the
problem, we will get a skewed dataset and clinicians can’t
properly look after people. That tells us that the ethics in this
area has to do more than avoid things going wrong, it also has to
work out what it means to do things right, and what systems we
have to put in place to do that. I think that’s a particular
example of a shift we need to do across our ethics around
healthcare.  


If speak to the sort of things that lawyers have got wrong around
this in the past and some of our history, we focused a lot of our
effort on stopping things going wrong. That has meant that we
haven’t spent as much time as we need to on thinking about how to
make things go right, because stopping things going wrong is
almost always too late. What we have to do if we’re being
proactive is work out how to set things up in a way that will
make sure that the chances of it going wrong are quite small and
the chances of doing good are much increased. I think that’s one
of the key challenges that we have in Genomics England and as an
Ethics Advisory Committee. The things we’ve inherited tell us
quite a lot about things that have gone wrong, but actually what
we’re trying to do is to get our heads around what could go right
and how to make sure it does. 


Latha: Also, you mentioned about Diverse Data, I think that’s
another important thing as we noticed in COVID as well. There
were lots of disparities in the social model and the inequalities
that have resulted in death, but also potentially HLA or
epigenetic issues which could have contributed. We do have the
COVID-19 genomic datasets, but it’s again important to make sure
that we don’t perceive certain ethnic minority populations. Just
not accessing or considering them to be hard to reach, I would
say for them Genomics England is hard to reach. It’s looking at
it slightly differently and thinking, “how can we reach them? how
do we maybe use community workers and maybe even clinicians?”, I
think they’ve got the best trusting relationships with their
clinicians and using them to recruit. As you say, even before
things get more complicated, you recruit them earlier so that
you’d go down the prevention route rather than the gone wrong
route and then look for answers later. 


Jonathan: Latha, I think you put your finger on something really
challenging for a group like the Ethics Advisory Committee at
Genomics England, which is that however hard we try to get a
range of experiences and voices, that’s not a substitute for
getting out and hearing from people in real world situations. I
think one of the things I’ve learnt over the years from my
national health service work is that you cannot expect people to
come to you, you need to go to them. In COVID when we were trying
to understand why some groups were more reluctant to take up
vaccines than others, there was no point in doing that sitting in
your own places, you had to listen to people’s concerns and
understand why they were there. One of the things we’re going to
have to be able to do as the Ethics Advisory Committee is work
out when we need to hear more from people outside of the Genomics
England system, and I’m a great believer that if it’s right that
we need to go where people are, you have to try not to reinvent
mechanisms to do that. You have to try and learn where are people
already talking about it and go and listen to them there.


Latha: Absolutely, yeah. I think they listen because I do work as
a paediatrician with a safeguarding hat, and I think the same
principles resonate in child death work. For example, simple
messages about cot deaths, you would think that if a professional
tells the same message to a parent or a carer it’s better
received if it’s another family, a younger person, another
layperson giving the same message. It comes back to who’s more
receptive. It could be a community worker.


As you mentioned about vaccination, during the vaccination
initiative I decided early on that I’m probably not going to do a
lot because I’m not an intensivist, how do I do my bit in the
pandemic. I decided to become a vaccinator and I thought with my
ethnic minority hat on, if I went out there to the mass centres
and actually vaccinated there or in mosques or wherever else,
without even saying a word I’m giving the message, aren’t I,
that, look, I’m fearlessly coming and getting vaccinated and
vaccinating others, so please come. I think that has helped to
some extent, just trying to reach out. Other than saying these
people are not reaching us, it’s got to be the other way
around. 


[Break for advertisements] 


Natalie: I’m really enjoying this conversation. In part because I
think it highlights just how valuable it is to sort of think
about ethics a little bit differently. Historically, and
certainly I think within the research community, ethics can just
be associated with consent. Consent is the ethics issue and if
you solve for consent, then you don’t have any other issues to
think through. I think what this conversation is really
highlighting is just how much broader the ethical considerations
are. Beyond that, it’s still very important that consent can be
that sort of anchor point for communication and engagement, but
it’s not simply a one-off. And to be able to think through ethics
not just in terms of risk or moving forward when things have gone
wrong in the past, there is actually a really positive aspect to
it which I think is critically important.  


It’s great to hear your thoughts about that different approach to
ethics that I think does embed it much more in community
thinking, in questions of equity; it’s not just the individual. I
want to follow-up by just asking where do you think the future
lies in thinking about ethics both for Genomics England and the
Ethics Advisory Committee, but in the space of genomic research
and medicine more broadly, given that it sits in this kind of
very interesting and quite complex space between research and
care in the clinic. 


Jonathan: I mentioned earlier in the conversation I think about
this as a common enterprise that we have shared stakes in.
Academic researchers have a stake in trying to build a better
more robust evidence base, clinicians have a stake in being able
to offer something to the people that they’re looking after.
Families have stakes not just in their own immediate care, but
they worry about their siblings, they worry about their children,
their grandchildren. There are also of course industrial players,
so people trying to build a business out of making better
medicines in the future. There are government players trying to
use public resources more effectively. I think what we have to
try to create is a mutual process where we recognise that
everybody has overlapping but slightly different values that
they’re pursuing and trying to get out of it, and how can we make
sure that we govern our work in a way that reflects all of those
stakeholders and recognises the respect that’s due to them. I
think this is more like a sort of membership of a common project.
And the problem with consent is it risks us saying you can be a
member of this club but only if you accept the terms and
conditions that the committee has decided is there. That’s not
going to be adequate going forward.


I think we need to make sure that everybody feels that they are
respected, that they feel they can place their trust in the
system that we’re designing. As an Ethics Advisory Committee, we
have to ask ourselves what justifies us suggesting to people that
this is trustworthy. We need to make sure we have good
information governance that people are not going to expose
themselves to breaches of privacy if they take part in this. But
we also need to make sure that we don’t waste people’s efforts.
If people are prepared to be part of the research project, we
shouldn’t have rules coming down on the data usage that say that
we’re going to reduce the value of that contribution by saying it
can only be used for one project and can’t be used for others,
because actually that would not respect properly people’s
contribution to the process.  


We need to ask ourselves not just about the protective element of
trustworthiness but that element that says we will make sure that
you get as much as we can design of the things that you think are
important from this project. They won’t be identical for each
group, and they won’t be identical within each group. Different
family members of participants will have different balances, but
they all have to believe that this is a good club to be part of
and that they have been part of agreeing ways of working that
they think will produce a better future that they want to be part
of and that they want to be proud of saying we have helped create
this future. 


Latha: I kind of agree with all that you’ve said. I think it’s
most important not to forget because I’m also a participant, like
my trio sample is there in the pipeline, and I know my data is
sitting there. I also have trust that there is good information
governance, the data is secure, so it’s reinforcing that, but
it’s also being very honest that it’s obviously the data is
there, but we can’t forget the person or the persons at the
centre of it, so it’s not just alphabets or sequences of
alphabets, but it is that whole person, and that person
represents a group of individuals, family members, different
generations, and they have embarked on it. Even if they know they
may not get hope they might provide hope for others. It’s being
therefore respectful.


I think that is the first thing I think is the principle of it
and if you respect. If you think it could be the same principle
that we use in clinical practice, the friends and family test,
because I’ve been on both sides of the consultation table, I
think I’ve become a better doctor because I’ve been an anxious
mum, and my anxieties were dismissed as being an anxious mum and
I don’t care. As far as my child is concerned, my anxiety was
valid and so I would do everything to reach an outcome as to
what’s best for that person. It’s made me a better doctor because
I can see it from both the perspectives. Most of us are human
beings, apart from AI technology looking at the dataset, so we
all have conditions ourselves, we’ve got doctors with health
conditions, we’ve got clinicians, academics, technicians, nurses
everybody who’s got a friend or a family member or themselves
having a health condition. I think its fundamental principle is
that friends and family test. How would I like my data stored?
How would I like my data analysed? Could it do this, could it
give me some information on how I would get cured or treated or
be managed? How would it affect my insurance, or will it find out
data about who’s the father of this child, for example? It’s
being honest and being honest about the uncertainties as
well.  


When I’m recruiting, I’m very clear that these are what I know
that I can tell you about the risks. But then there may be other
risks that I do not know about. If you’re honest about it and
acknowledge what is the limit of the knowledge of science at this
point in time, because you said there are so many stakeholders,
there are researchers and academics who’ve got interest in some
areas, it could have developed because of a family member having
that problem, but whatever it is that is a great interest because
that intelligent mind is thinking ahead and we need to encourage
that. It could be for writing up papers, it doesn’t matter.
Whatever be the reason, if it’s for the common good, that’s fine.
It’s also thinking how are we keeping our families in the loop,
so you have newborns, you’ve got young people sometimes with
significant disabilities so they are relying on a parent or a
carer to consent for them, but some are not so disabled but they
have needs, they’ve got rare conditions, but they can make their
consenting issues known when they turn 16, for example. It’s the
changing policies and they can withdraw at some point in life or
there may be a member of the family who doesn’t want to be part
of that journey anymore. It’s allowing that to happen.


Jonathan: I think that’s a really interesting example you’ve just
touched on, Latha, where I may diverge a bit in terms of what I
think is the key issue. The right to withdraw I think is a really
interesting challenge for us going forward, because we developed
the right to withdraw in the ethics of research studies that had
physical interventions. It’s really clear that someone who is
being put to discomfort and is having things done to her body, if
she wants to stop that, we can’t justify continuing on the basis
of it being a research project. But I’m less clear whether that
applies to withdrawing data from data pools. I think there are a
few dimensions to that which I hope as an Ethics Advisory
Committee we’ll have a chance to think through a bit more. One is
the mutual obligations that we owe to each other. I’m not in
these particular studies but I do try and take part in research
studies when I’m eligible and invited to because I think research
is important. When I take part in things and when our
participants have taken part, they’re doing something in which
they rely on other people participating because the aggregation
of the data is what makes it power.


One of the things we have to be honest about is what are our
mutual expectations of each other, so I think we absolutely have
to hold on to the fact that people should be able to withdraw
from further interventions, but I’m not convinced that you should
have the right to say the data I’ve previously contributed that
other people have relied on can suddenly be sucked out and taken
out of it, because I think it’s reasonable for us to say if this
is a sort of part of an enterprise. While you’re part of it,
you’ve made some commitments as well as, and that’s part of the
mutuality of the respect. I think I personally would want to
argue you can withdraw from new things, but provided that your
privacy is not intruded on, so we’re talking about data health
anonymously, you shouldn’t be able to say don’t process it
anymore.


Latha: No, no, no. What I meant was from my perspective I would
like to be constantly involved and get information through
trickling. I don’t know what my daughter feels years down the
line, she might say I’m happy for my data to be used for
research, but I don’t want to know anymore. There are two aspects
of that, and I think if we are clear with that and say continue
with my data being used for research, but I don’t want to get
anymore letters. I think those are the kind of questions I face
when I tell them families that these are the uncertainties, you
can have your blood stored, you may not be approached again for a
resampling unless you have some other issues, but are we happy
with this? I think that’s what I understand, and I try and
recruit with that intention.


Jonathan: And that makes lots of sense to me. As you say, you
probably can’t speak for your daughters now, and you certainly
can’t speak for them when they become parents for themselves and
those things, but we do need to create an ethical framework which
recognises that people will change their mind on things and
people will vary about what they want to do. But because we have
mutual obligations, what that means and the control we can give,
we have to be open and honest about what choices we can give
people without undermining the enterprise and what choices we
say, “you don’t have to do this, but if you want to be part of
it, there are some common mutual obligations that are intrinsic”,
and that’s true of researchers, it’s true of clinicians, it’s
true of anyone who works in Genomics England or the NHS.  


But I don’t think we’ve been very good at explaining to people
that there’s an element of this which is a package. A bit like
when I bank, I allow the bank to track my transactions and to
call me if they see something that looks out of the ordinary as a
part of the protections from me. I can’t opt out of that bit. I
can opt out of them sending me letters and just say do it by
email or whatever and I have some choices, but there’s an
infrastructure of the system which is helping it to function well
and do the things it’s able to do. I don’t think we’ve been very
good at explaining that to people, because we’ve tended to say,
“as long as you’ve signed the consent form at the beginning of
the process, it doesn’t really matter what happens after that,
you’ve been told.”. That’s not enough I think for good
ethics. 


Latha: And I think that comes back to the other issue about
training those who are consenting. I speak from personal
experience within my own teams I can see somebody might say, “I
don’t do whole genomic sequencing consenting; I don’t have the
time for it.”. I might even have my organisational lead saying
when we had a letter come through to say now we’re no longer
doing this, we’re going to be doing this test for everybody,
there’s a whole gasp because it’s at least two hours’ worth of
time and how are we going to generate that time with the best of
intentions. I think that’s where I think the vision and the
pragmatic, you know, the grounding, those two should somehow link
with each other. The vision of Genomics England with working with
NHS England and with the future, Health Education England arm
that is not amalgamated with NHS England, is trying to see how do
we train our future clinicians who will hopefully consider it as
part of their embedded working thinking and analysis, but also,
how do we change the here and the now?


The more senior conservative thinking people, who are worried
about how do they have to generate time to manage, we’re probably
already a bit burnt out or burning out, how do they generate
time? If you then discover new conditions whether there is
already bottleneck in various pathways, how are we ethically
managing the new diagnosis and how will they fit in in the
waiting list criteria of those people on the journey who are
symptomatic. I find that bottleneck when I have conversations
with colleagues is the anxiety, how is that going to be
addressed. 


Jonathan: Latha, you’ve sort of taken us around in a circle. We
started off thinking what was special about genomics, and we’ve
reflected on ‘we have to solve the problems of the health
service’. I think that there’s some wisdom in that, because we
are learning how to do things that are not unique to genomics,
but there’s an opportunity in genomics to do it better and an
opportunity for us to help other areas of the health service do
better, too. I think we’ve come around in full circle in a
sense. 


Natalie: Which feels like a lovely way to wrap up our
conversation. I feel like we’ve gone into some of the deep
ethical principles but also really shown how they can be brought
into the practice, into the clinic and brought to bear the
thinking and the feelings, the hopes the anxieties of
participants. There’s a very, very important range of different
voices so a very rich discussion.  


I’d just like to thank you both very much for joining us on the
podcast. Thank you to our guests, Professor Sir Jonathan
Montgomery and Dr Latha Chandramouli for joining me today as we
discussed ethics in genomics research and practice. If you would
like to hear more like this, please subscribe to Behind the Genes
on your favourite podcast app. Thank you for listening. I’ve been
your host, Natalie Banner. This podcast was edited by Bill
Griffin at Ventoux Digital, and produced by Naimah Callachand.