David Bick: Genomics 101 - What is the Generation Study?

In this explainer episode, we’ve asked David Bick, Principal
Clinician for the Newborn Genomes Programme at Genomics England,
to explain more about the Generation Study, in less than 10
minutes.


For more information you can listen to our podcast episode where
David discusses the conditions that we will initially look for in
the 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.


Want to find out more? Check out the blog 'Genomics 101: What is
the Generation Study?'


You can download the transcript or read it below.


Naimah: What is the Generation Study? I'm Naimah Callachand, and
today I'm joined by David Bick, the principal clinician for the
Newborn Genomes Program at Genomics England, and he's going to
explain more.


Okay, so first of all, David, please, can you tell me what is the
generation study?


David: The Generation Study is a research study organised by
Genomics England in partnership with the NHS. So what is the
study exactly? We know that children are born every day with
treatable genetic conditions. What we want to do in this study is
we want to find those children and treat them before they become
sick. We know that if we can find these children early in life,
we can keep them healthy.


Naimah: Can you tell me a bit about how the study was designed?


David: Yes, this study was designed to look for genetic
conditions that are treatable, and we went about looking for
which conditions to include through an extensive evaluation that
involves specialists, laboratory specialists, the NHS and
patients from different support groups. And through this process,
we identified more than 200 conditions that are treatable, and we
are including those in the study.


Naimah: And David, you mentioned the conditions list there. You
can also find an additional podcast on our website where you go
into more detail as to why the conditions on that list were
chosen initially for the study.


Can you tell me how this fits in with the current newborn
screening program?


David: The current newborn screening program looks for a smaller
number of conditions, nine conditions. It has been extremely
successful and is an extremely important program, and so we're
looking to see how our program could be an adjunct to the current
screening process.


Naimah: How would people take part in this study?


David: What we're going to do is we're going to ask couples in
mid-trimester, in the middle of pregnancy to join in the study,
we're going give them a number of opportunities to learn about
the study and those that sign up. We plan to obtain cord blood
from the placenta after birth. And as you may recall, the
placenta is discarded and so this cord blood would normally
simply be discarded, but we can take this umbilical cord blood
and test it for genes. We expect it to expand to perhaps 40
trusts across the country.


Naimah: And David, the NHS is already under quite a lot of
pressure at the minute. What will this study mean for the NHS?
What impact will it have?


David: That has been one of the main concerns as we went forward
with thinking about the study was to make sure that we did not
add additional burden to the NHS. But it's important to realise
that the children that we're looking for already have the
condition, they're going to become ill.


And our plan is, our hope is that if we can find them before they
become ill, we will actually relieve stress on the NHS system.
Let me give an example. There is a condition called biotinidase
deficiency. Here is a condition where the child who has it, is
unable to recycle a vitamin called biotin. Well, biotin is
something you can pick up at the health food store, and so these
children.


Need to be given extra biotin every day. Very, very inexpensive,
very, very safe. But if you don't find these children before they
become ill, they can become quite seriously ill. So if we can
find these children before they get sick, get them started on
this very simple, very inexpensive, very safe medication vitamin.
In fact, this will actually save money for the NHS, but also help
the NHS function more effectively. And most importantly, to allow
parents to have the knowledge that they have done something for
their child, which will prevent their child from becoming
ill. 


Naimah: Some parents might want to know if their child's data is
being kept safe. What are you doing to ensure this?


David: Data safety is very important to us. We know that this
information is extremely sensitive, and so our data protection is
a very high priority. We're controlling very carefully who will
have access to the data. There are groups that we do want to work
with this data. We want researchers and the pharmaceutical
industry to work with this data to improve treatments.


We know that there are many, many genetic conditions for which
there is no treatment. Those conditions are not on our panel, and
so we're hoping that the information that we learn from these
genomes can be used to improve the care of conditions that exist,
that are treatable, but most importantly, to find treatments for
conditions that are currently not treatable.


And one way that we're doing this is we're going to ask families
to stay with us for several years after the program starts. Once
we have screened families, we're going to find some that are
going to be screened positive, in which case we would look to see
whether they have the condition or not, and then go ahead and
start treatment.


We also, unfortunately, in a screening situation, we know that
we're going to miss some cases, and so again, we want to stay in
contact with families so we can know how to improve the testing,
but most importantly, to understand how the test works, how
screening works using genome and determine whether this makes
sense to include all patients that are born in England going
forward.


Naimah: And can you just finally tell me where you expect this
study to go? In the coming months?


David: What we hope is that one day we'll reach a point where we
can find and treat children who have treatable conditions before
they get ill. this would really make our healthcare system a real
healthcare system. We would find children before they get ill.


In this way we can keep children healthy and help them lead and
live their best lives.


Naimah: So that was David Bick explaining ‘what is The Generation
Study’. You can find out more about the study on our website and
if you'd like to follow us on social media, you'll be able to
keep up to date with any of the updates.


Thank you for listening.