How Healthcare Organizations Can Drive Diversity in Genetic Research

One year after the national launch of the All of Us precision medicine initiative, NIH mapping shows two-thirds of fully enrolled participants come from just six states with participating health provider organizations (HPOs). Increasing the breadth and depth of genetic data collected can lead to more medical breakthroughs.

It may sound counterintuitive, but big data holds the keys to unlocking countless mysteries about individual people’s health, according to Joshua C. Denny, MD, a Professor in the Departments of Biomedical Informatics and Medicine at Vanderbilt University Medical Center. In addition to several other roles focused on studying precision medicine and EHR data, Denny is also a principal investigator with the National Institutes of Health’s All of Us Research Program.

Denny’s involvement with this project—which aims to gather data from at least one million people—combines his passions for collecting genetic data from diverse populations and enabling the sharing of such information to inform new medical discoveries.

“For millennia, medicine has been about the person in front of you, but it wasn’t personalized medicine,” he says. “Now, we’re tailoring care to the person based on things we can’t see with our eyes or hear from patient stories or our stethoscopes.”

That previously missing information comes from the information encoded in every person’s DNA. But understanding what it means requires an exponentially wider view in terms of numbers as well as ethnic diversity.

“A lot of these [mutations] are so rare that it really takes a huge number of people to figure out what matters. The more we’re amassing sample populations, the more we’re learning about rare mutations by ancestry as well as universal mutations that happen with all ancestries,” Denny says. “That’s why studying diversity benefits everyone.”

However, the genome-wide association studies (GWAS) scientists have been using for the past 20 years to identify connections between genetic variants and disease risk rely on data that is mostly from people of European descent. In fact, commentary published this spring in the journal Cell states just how far the data leans this way—78 percent, even though people of European descent make up only 16 percent of the global population.

The map above shows the state by state concentration of All of Us participants as of May 3, 2019, as reported by the new All of Us Research Hub. Recruitment partners are located throughout the country. Areas with currently active All of Us healthcare organizations have a greater percentage of participants. (Source: NIH)

Diversity in Genetic Research

Efforts to improve the breadth of genetic data to be studied have already resulted in breakthroughs. A shining example of progress in drug discovery is the PCSK9 story, says Denny. Until discovery of the PCSK9 enzyme and its link to familial hypercholesterolemia, statins were the most effective drug known to treat high cholesterol. Drugs that inhibit PCSK9, however, can lower LDL cholesterol 60 percent more than a statin alone.

“We haven’t really had anything close to statins. These [PCSK9 inhibitors] were discovered by looking at small populations of African American individuals in Dallas,” Denny says. “There are many stories like that.”

NIH Updates All of Us Numbers

Enrollment in the All of Us Research Program reached 192,000 as of May 6, 2019, according to a recent NIH update. That number includes more than 143,000 participants who have completed all the initial steps of the program—answering the first three surveys, agreeing to share EHRs, having their physical measurements taken, and providing blood and urine samples for whole genome sequencing and other analyses.

While the NIH reports that 80 percent of participants represent communities that are historically underrepresented in research, including 51percent from racial and minority groups, more participants from each racial and minority group are needed to build a richer dataset, Denny says.

The more samples gathered among certain populations, the better doctors could understand how certain drugs may work better, worse, or not at all among ethnicities, for example.

Healthcare Organizations Can Help

To make even more medical discoveries possible, Denny urges healthcare organizations that haven’t already partnered with All of Us to consider participating.

All of Us may get a funding boost, too. The House Committee on Appropriations recently released a draft bill that if enacted could provide an additional $500 million for the initiative.

In addition, the healthcare community can play a role in advancing the technology needed to mine and share increasingly vast amounts of EHR data. “It’s important for us as healthcare centers to help drive the market to make health records more sharable. That will help us as a community to take better care of our patients,” Denny says.

—Debra A. Shute

Related Information:

May 6, 2019, NIH announcement

April 29, 2019, House Committee news release

Explore the new All of Us Data Browser

Read the commentary in Cell

More about PCSK9 inhibition

About Joshua C. Denny, MD