Mathilde Leblond: What do parents want to know about the Generation Study?

In this explainer episode, we’ve asked Mathilde Leblond, Senior
Design Researcher for the Generation Study at Genomics England,
to answer some frequently asked questions that we received from
parents who we engaged with for the design of the study.


You can hear more information about Generation Study via the
study's official website and in our previous podcast episodes:


How has design research shaped the Generation Study?

Which conditions will we look for initially in the Generation
Study?



You can also find a series of short videos explaining some of the
common terms you might encounter about genomics on
our YouTube channel.


If you’ve got any questions, or have any other topics you’d like
us to explain, feel free to contact us
on info@genomicsengland.co.uk.


You can download the transcript or read it below.


Naimah: You may have heard about the Generation Study. This
research study led by Genomics England in partnership with NHS
England will sequence the whole genomes of a hundred thousand
newborn babies and will look for more than 200 rare conditions
that could be treated in the NHS in early childhood. 


The study seeks to improve how we diagnose and treat rare genetic
conditions to enable babies and families to have better outcomes.
Today I'm joined by Mathilde Leblond, who leads design research
for the Generation Study, and will be answering some of the
frequently asked questions that we receive from parents who we
engaged with for the design of the study — the same questions
that expectant parents at participating hospitals might have
before deciding if they want to take part. 


So first of all, Mathilde, can you tell me a little bit more
about your role? 


Mathilde: Hello. So, I'm a design researcher. My role is to
support my colleagues, understand our users deeply so that we can
create experiences that are as positive and seamless as
possible. 


So today we'll talk about the parents who are the ones invited to
take part in the Generation Study, but our users also include the
midwives who are approaching them and taking blood samples. The
clinical scientists who are interpreting the results and the
specialist paediatricians will be contacting the parents if a
condition is suspected, and even many more users actually. 


So, we did a lot of research prior to launching to shape the
Generation Study, and now that we're live, we continue doing more
to keep improving the experience. 


Naimah: Okay, so can you give us a bit of background? How did you
engage with parents in this study? 


Mathilde: Yeah, so today we've involved over 150 pregnant and
recent parents in our co-design sessions. 


And these sessions were slightly different each time with
different topics and exercises, but generally we spend around 90
minutes with one parent. And we asked them to bring someone who
helped them make decisions about their baby during their
pregnancy. So that meant that we had their mums, their sisters,
their husbands, their wives and friends as well, taking part and
discussing the Generation Study with us. 


During that time with them, we would test our materials. We
listened out to what's important to them and what they asked
about, and we got them to show us what would work better for them
so that we could then shape the materials around
that.  


Naimah: So you can find out a bit more about why it's important
to involve users in co-design in our podcast ‘How has design
research helped shape the Generation Study?’, which is available
on our website.  


So, we have a list of frequently asked questions from some of the
parents, and I wanted to post some of them to you today,
Mathilde. So first of all, one of the questions was, why should
my baby take part in this study? 


Mathilde: Yeah, I mean, that's really the key questions that all
parents are asking themselves before they even spend any time
finding out more about the Generation Study. And our materials do
reflect that. So what tends to matter most to the parents we
spoke to, is that there's a small chance that their baby may
benefit directly from taking part because if a condition is
suspected, they'll be invited for further specialised tests
within the NHS, and they could receive treatment much sooner than
if we had waited for the symptoms to develop and for a diagnosis
to come, which can sometimes take years for some rare conditions.
But for a large majority of the babies, 99%, they will have no
condition suspected and so their involvement really is more
altruistic. Taking part means that their parents agree to share
the baby's healthcare records on an ongoing basis and their
genome with researchers who can then look at this together with
information from thousands of other babies and patients to help
improve our understanding of genes and health. 


So taking part in the Generation Study also means that you might
help uncover some life-changing early treatments for babies in
the future. And finally, something that's super important to us
is that people from Black, Asian and other minority ethnic
communities have historically been underrepresented in this type
of research. So, we're working hard to make the Generation Study
as inclusive as possible to help genetic testing and treatments
be improved for everybody in the future. So, there's many reasons
to take part in the Generation Study.  


Naimah: You mentioned the word altruistic there. Can you tell me
what that means?  


Mathilde: Yeah, so that's really to help society. They may not
get benefits within their own lives or within their own family,
but somebody somewhere will benefit from it in the future. And
that's what altruistic means.  


Naimah: Thank you. So, some parents might also ask, will this
test tell me every illness that my baby might have now and in the
future? 


Mathilde: No. So first of all, we're still learning a lot about
how genes work, how the environment affects them, and there's
also many conditions that we still don't understand very well. So
those are not in. Of the conditions that we do understand quite
well. We did a big piece of public engagement in 2022 to try and
decide which ones to include as part of the screening. 


And while some parents told us that they would want to know every
single thing in advance, a lot of parents were worried about how
much it would raise their anxiety to find out about a potentially
incurable condition at such a fragile and beautiful moment when
you have a new baby. So, for this reason and many other reasons,
we've decided to proceed really cautiously so that the conditions
that we'll be testing for have been chosen to reflect 4 key
principles. And you can find them on the website. But the main
gist is that we'll only be looking for conditions that normally
start in childhood, first few years of life. So, nothing around
Alzheimer’s, nothing around breast cancer, for instance. And
another principle is that there's has to be already existing
pathways within the NHS so that the babies can be seen and
treated quickly. So, we're only including those conditions that
start in childhood, and something can be done about them early
on. 


Naimah: You can also listen to our podcast on our website 'Which
conditions will we look for initially in the Generation study?’
to find out more about the list of 200 conditions, which we'll
look for in the study and how this may change over the course of
time as new evidence emerges. 


So, another common theme with the parents was that they are aware
that the NHS is already under a lot of pressure, and they asked
if my baby is flagged for more testing, will I really be able to
get the support I need from the NHS in time?  


Mathilde: Yeah, that's a question that we've heard a lot
actually, and it really makes sense considering the media
coverage that's coming out daily, and that's been really in the
papers for months now about how stretched the NHS is. 


We've worked really closely with the NHS to ensure that all the
babies that have a condition suspected as part of the Generation
Study can be seen as soon as possible. So, our team has been in
touch with specialists from across the country to understand how
ready they are to take in those babies, to run confirmatory tests
and potentially start treating them sooner. 


So, it's been really key for us to make sure that we're not
flagging up a baby for more testing and they just have to wait
for months before they can get extra tests and attention. And
that's so important for us to get right. In the long term, we
hope that screening could actually relieve some pressure from the
NHS if we can get babies to the correct doctor earlier on while
their health is still good. 


Naimah: Some parents might also ask, this research sounds very
new. Is my baby going to be a Guinea pig?  


Mathilde: Those two words, Guinea pig, came up again and again in
almost every single session that I've had with parents, it was
almost a freaky coincidence. I find that most parents use this
wording to mean, will we inject anything into their baby or give
them any medication that has not been tested and approved? 


And the answer to this is no. What does happen is that when a
baby's born after the birth, we need to take a few drops of blood
so that we can create their genome, their DNA, and normally we'll
take a bit from their umbilical cords, and that is happening in
most of the birth at the moment of the participants. 


But if for any reason we couldn't take that, maybe it was a
complex labour, there was some emergency. The parents are asked a
bit later if they would allow for a bit of blood to be collected
using the heel prick methods. And that's a method that's been
used in the babies in the UK within 5 days of birth for many,
many years. And it looks for 9 conditions, as a current NHS test.
So that's definitely safe. And usually when parents find out that
that's all there is to it, they feel a lot more comfortable. A
little disclaimer here because we mentioned the 5-day heel prick,
while we use a similar method to get the blood, if we couldn't
get blood from the umbilical cords, it's important to see that
this is a different test, it's a proven test within the NHS which
says many lives. So, parents who choose to take part in the
Generation Study are very much encouraged to also agree to the
day 5 newborn screen screening.  


With all of that being said, this is a new research study and
there are some uncertainties. Most of them revolve around how
quickly we can process the results, how will parents and the NHS
react to receiving these results so early, but also will this be
inclusive for everybody? And might we inadvertently create more
inequities? We're actively listening to sites now that we have
opened and we have a survey that our participants can fill out,
and we're working with UCL to help evaluate the impact of the
Generation Study in an unbiased way. 


Naimah: Okay. And another frequently asked question, if you have
my baby's DNA, does that mean that you can clone
them?  


Mathilde: Cloning comes up regularly in our interviews with
parents, though sometimes I found that people can feel a little
bit silly asking about it, but actually it's a quite big topic
that's top of mind when we talk about DNA and genomes. 


Not least because of how much it comes up in sci-fi, it's just
everywhere. So first of all, about cloning, it's important to
remember that it's completely illegal, but it also has a whole
host of other ethical concerns, which we don't take lightly at
all here at Genomics England. So, the research that our study
will support will be firmly within the bands of law and ethics
and will only focus on discovering answers to questions that
could help the health and wellbeing of babies, and really all of
us in the future. No cloning involved. 


Naimah: Okay. And then the final question, how can I take part in
the study? 


Mathilde: We've already opened in over 10 hospitals in England,
which we are very excited about and we're actively working on
opening more. You can visit our website,
www.generationstudy.co.uk, to see an up-to-date list of hospitals
which are currently taking part, and to read more about what
taking part entails. Then you can contact your local research
team to log your interest if you're planning on giving birth in
one of our partner hospitals, and they'll be in touch to let you
know about the next steps. 


Naimah: That was Mathilde Leblond answering some of the
frequently asked questions from parents that we have engaged with
for this study. If you've got any questions or you'd like to hear
more, please contact us at ge-newborns@genomicsengland.co.uk, or
you could find out more on the Generation Study website
www.generationstudy.co.uk. 


Thank you for listening.