Marie Nugent: Genomics 101 - Why is diversity important in genomics research?

In this explainer episode, we’ve asked Marie Nugent, Community
Manager for the Diverse Data Initiative at Genomics England, to
explain what diversity is and why it's important, in the context
of genomics.


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: Why is diversity important in genomics? Today, I’m joined
by Marie Nugent, who’s an engagement manager for the Diverse Data
Initiative at Genomics England, and she’s going to explain more.
So first of all, Marie, let’s start at the beginning. What is
diversity? 


Marie: I think it’s sort of a fiendishly seeming simple question,
isn’t it, what is diversity, and I think you’ll get just as broad
a range of answers as the people you might ask that question to.
But for me, you know, it’s really got to be about how we do
things. So to me, diversity is about recognising that there’s
maybe a limited way in which certain things work, or the way in
which we might go about doing certain things, and it’s also
limited in terms of who’s involved in that and who might benefit
from that. So, in the broadest sense, I think diversity means
recognising the limitations of maybe what you currently do, and
really looking for how can we open that up a lot more to provide
the space and opportunity for a broader range of people and
voices and experiences to really be brought into that and shape
it. 


Naimah: And can you tell me a bit more about what diversity means
in the context of genomics? 


Marie: I find this absolutely fascinating in the context of
genomics, because genomics is really about how do we understand,
you know, how our DNA, as an entire piece of information, is
building us and shaping us as people, and having an impact on our
lives, and, you know, for us predominantly our health. And the
way in which we currently think about grouping people in genomics
is unfortunately still very, very heavily influenced by social
understandings of how people group together, not necessarily
anything that’s really about your genetic ancestry, for example,
which is very different. So at the moment, you know, it’s an
interesting thing to play with and think about because in
genomics it’s absolutely crucial that we understand the broadest
sense of human diversity in terms of genetics and genomics, and
only by doing that can we start to really fully understand what
it means to be distinct, and therefore how small changes in DNA
can have a massive impact on people’s health.  


So, diversity in the context of genomics has to actually
completely change the very fundamental ways in which we currently
understand how people group together, so it’s really getting at
the heart of that academic thinking about the topic. But it’s
more than that, of course, as well, because as I’ve sort of
already mentioned about what diversity means more broadly, it’s
got to be about how we do things and who’s involved in that, and
who benefits from it. So, in the context of genomics, it’s
playing at the ideas of how we even understand how people relate
to each other and how they’re different from each other, as well
as how we do things. It’s a really complex but fascinating topic,
to be honest, to be able to look at and study in some way. 


Naimah: How does the inclusion of diverse populations contribute
to improving genomic research? 


Marie: Yeah, so following on from what I’ve just said, we
fundamentally need to include everyone, you know. In order for us
to really understand what genetic ancestry means and what
difference looks like across different groups, and how that
impacts health, we have to be able to capture, as best as we
possibly can, you know, what true genetic diversity looks like in
people. So, including as many people as possible who are
different from what we currently understand is absolutely
crucial. It’s the only way in which we can progress this area.
And as I say, that’s in terms of how we think about it maybe
academically and what we can do in terms of research, and what we
understand, but it’s got to also be about the practice and how we
do things. So, there’s involving people and having good
representation of people in, say, data, but we have to think
about how we’re involving people in how we do things and how we
understand things, and how we make decisions about these things
too. 


Naimah: So, for these large groups of people, what are the
challenges and barriers for including everyone? 


Marie: So, I think there are a lot of challenges and barriers
that hinder the inclusion of a broader range of groups of people
in studies. I suppose the main one that I’m going to focus on is
it’s actually the way in which we do research. It’s actually our
culture, if you like, of work in this area. That’s one of the
biggest barriers, and that’s because, you know, research is a
very fast paced, very competitive environment and area of work to
be in. Quite often, you know, things need to be done at pace, and
things need results, and things need to be published and all that
sort of thing, and I think there is sometimes this perception of
not having enough time to slow down a little bit, think a bit
more carefully and outside the box about how we might approach a
piece of work, for example.


So for me, I think the biggest barriers actually exist within the
existing organisations and people who do this work currently.
We’re quite sort of blinkered, I think, still in terms of how we
can even approach this work. And finding ways of approaching
doing research in a way that’s kind of outside the traditional
sort of ways of thinking is for me personally, in my experience
of working in this area, one of the biggest challenges
still.  


Naimah: And finally Marie, how can we address these
challenges? 


Marie: I think it’s not easy for sure, because this isn’t a new
thing that people have been trying to do, you know. There’s a big
body of work, you know, in the context of the UK that’s been
going on for a number of years, that’s been about sort of trying
to open up and challenge, you know, existing research culture and
things like that. But I think it has to be about our approach.
So, for example, we have the power at Genomics England to think
about how we approach the new initiatives, the new pieces of work
that we would like to initiate. We talk about trust a lot in this
space, but for me, it has to link back to how do we therefore
change the way in which we do things so that it opens up a little
bit more, people can see for themselves that we’re trustworthy
and they can trust in this, rather than just saying, “Obviously,
you can trust us because we’re doing research,” or, “We’re doing
something that’s going to be brought into the NHS.”
Unfortunately, that just doesn’t quite cut it for a lot of people
for various fairly understandable reasons. 


And I think, you know, we can make decisions about how we go
about doing that work, and I think it’s about your priorities and
things like that. So for me, the most effective way of actually
addressing some of these existing challenges and barriers is to
almost be brave enough to do it differently, and take that sort
of perceived risk of maybe not doing things as expected and
slowing it down, and allowing that extra time and space for
people to come in and shape it, and not actually feel like we
have to know everything and we have to make all the decisions.
Sometimes I think it’s about, we hold the space, we have the
resources and we have the access to the expertise, but how can we
create the space where actually other people shape it and we just
simply facilitate it. That’s the kind of thing I’d like to see
organisations like ours and other research institutions and
things like that start moving towards as facilitators of shaping
work that will bring some sort of public benefit. 


Naimah: That was Marie Nugent explaining diversity in genomics.
I’ve been your host, Naimah Callachand, and if you want to hear
more Explainer episodes like this, you can find them on our
website at www.genomicsengland.co.uk. Thank you for listening.