Minority inclusion in genome sequencing

Dr. Keolu Fox, a human geneticist and post-doctoral fellow at the University of California, San Diego is advocating for minority inclusion in genome sequencing.

TRANSCRIPT

The quest to understand our human genes has revolutionized medicine, allowing scientists to better understand unique genetic makeups and improve the way we identify and treat disease.

But after a decade of research, scientists have found that indigenous and minority populations are underrepresented.

Dr. Keolu Fox, a human geneticist and postdoctoral fellow at the University of California, San Diego, is advocating for minority inclusion in genome sequencing.

Keolu joins me now.

Thanks for being here.

Thanks for having me on, guys.

And, so, to start off, why is 96% of genetic research focused primarily on people of European descent?

Yeah, so, the numbers are a little bit better recently.

They came out with a paper in and the numbers are somewhere kind of in the 80% range, but I think that mostly caters towards Asian populations.

I think the reason why this is happening is sort of twofold.

One is because of a history of exploitation of indigenous people's rights and their culture.

And then another, kind of the other side of the coin, would be something like nepotism -- that is, that the majority of the investigators that are either MDs or PhDs are white and cater to those populations.

And then there are other complications like access to healthcare and things like that, that people on reservations or homestead land in Hawaii, for example, have less access to.

What are the ripple effects of this gap and the importance of closing it?

Genome sequencing affords us the opportunity to begin to predict and prevent disease, rather than reacting to it.

So if we're not including the populations of people who need genome sequencing the most, they won't be included in the future of medicine.

And if you look at the trajectory that the White House, for example, is going with the Precision Medicine Initiative, it doesn't look like minority populations will be engaged in the most thoughtful ways.

So we really need to be creative about how we engage indigenous and minority populations in the future.

And can you back up?

What is the Inclusive Medicine initiative?

Oh, it's called the Precision Medicine Initiative.

It's a $215 million effort that was launched by the White House in concert with the NIH earlier this year, and their goal to sequence 1 million people's genomes in the United States of America.

And so if we're collecting -- Through genome research and sequencing, if you say every person's DNA and genetic sequence is like a fingerprint, and you're getting a wide sample to create kind of a baseline, and we're missing these populations of people, what kind of impact, also, does that have on the people's view of that research and what's coming out of it?

Well, one thing that's really important to think about is that we learn a lot from sequencing of minorities' genomes.

Things like sickle cell, for example, is a response to populations of people, mostly in Africa, being exposed to the malaria parasite.

So there are local adaptions on a global level.

We can learn a lot about disease predilection on the mechanistic level.

For example, Inuit populations in Greenland recently have had their genomes sequenced, and they learned a lot about the fatty acid gene region called FADS 1, 2, and 3.

And in that region, they're starting to understand the way that we metabolize essential fats, Omega-3s and Omega-6s.

And that's because these populations of people have been participating in a marine diet, mostly of whale blubber and fats like this over thousands of years.

Now, what's really interesting is, this lowers their predilection to heart disease, which is the number-one cause of death in America.

So when you think about the scale and what we can actually learn in terms of developing treatments, potential drug development, and these types of things, it's extremely valuable, yet we continue to exclude these populations.

So you've taken this on with Indigenomics, right?

A organization to sort of indigenize medicine.

Can you explain that?

What we're trying to do is we've started a non-profit organization, and what our goal is is to educate indigenous people on the potential use and misuse of genetic information so that they're not exploited in the future.

The goal really is to activate and democratize genome sequencing so that it benefits those people.

You see, we treat communities of people -- for example, the Navajo Nation is a reservation.

It should be treated like a sovereign nation, like any diplomatic relationship, like we have with France or Japan, for example.

Hmm.

And this creates a lot of complex relationships in terms of data sharing, biobanking... many kind of nuanced things that are extremely important in science, especially in the big data era.

So what we're trying to do is create technological independence and activate communities, citizen scientists, and really, really get them to put their stake and their spin on science.

All right.

And as you mentioned, one of the issues that have contributed to this problem is access.

One of the ways that you're working on solving it is through a new technology that's making this sequencing more accessible.

Can you explain what that is and [ Chuckles ] and how it's working?

Yeah, so, traditionally, genomes are sequenced using genome sequencers, and some of them are extremely large.

Picture, you know, something the size of a refrigerator, but the newer models that are coming out are about the size of the USB port.

You know, they're very tiny.

You know, you could fit one in your pocket, you could fit one in your backpack, and we are able to bring that technology into an indigenous space, sort of recasting, re-imagining, and de-black-boxing the hardware.

What this does is this creates transparency because you're not taking somebody's DNA and then leaving, never to return, generating data, and making your career literally off of the blood of indigenous people.

This way, we're activating people as citizen scientists, community members, and you really are creating transparency about how the hardware works.

And what's beautiful about this is that you could connect it to an iPad or a laptop and utilize cloud computation, and you really have your whole genome center in your backpack, and you can perform many of the things that we do in the Genome Sequencing Center here in somewhere like La Jolla or Seattle or Boston -- You could be doing that anywhere in a really remote area.

And that's a very powerful idea.

So, what kind of timeline do you see for minority populations and indigenous people to be a bigger part of genetic sequencing and research?

I would say right now is the best time.

I just got my Ph.D. in August, and I am more motivated than ever to make a difference.

And I think something we really need to focus on is educating the next generation of scientists in a world where it's predominantly filled with white males that operate as doctors, surgeons, scientists, and I think the inversion of power that we're observing in our latest election in the United States of America -- you're gonna see a lot of that sort of take place in the medical space, as well.

You're going to see the next generation of brown scientists become leaders and make decisions that reflect the diversity that we see in America every day.

Can't wait to see what that looks like.

Keolu Fox, thanks for joining us.

Thanks for having me on the show.