Genetic studies have a diversity problem that research is trying to solve

CHARLESTON, S.C. — Lee Moultrie said when she walked into a dental clinic at the Medical University of South Carolina recently, wearing a light blue tank top emblazoned with “In Our DNA SC” across the front, two black women They stopped him to ask questions. .

“It’s a walking billboard,” said Moultrie, a health care advocate who serves on the community advisory board for In Our DNA SC. Genetic research aims to better understand how genes affect health risks such as cancer and heart disease.

Moultrie, who is black and participated in the research project herself, used the opportunity at the dental clinic to encourage women to sign up and contribute their DNA. He keeps brochures about the study in his car, so he goes to the barber shop every week. It’s one way he wants to help solve a problem that has plagued the field of genetics research for decades: the data is mostly based on the DNA of white people.

Project leaders in Charleston in 2022 told KFF Health News they hope to enroll participants that reflect the demographic diversity of South Carolina, where less than 27 percent of residents identify as black or African American. However, to date, they have failed to reach this point. Only about 12 percent of project participants who provided sociodemographic data are black, while another 5 percent identified as belonging to another racial minority group.

“We would like to be a lot more diverse,” acknowledged Daniel Judge, the study’s principal investigator and a cardiovascular geneticist at the Medical University of South Carolina.

The lack of diversity in genetics research has real health care implications. Research shows that since the completion of the Human Genome Project more than 20 years ago, which first mapped most human genes, nearly 90 percent of genomic studies have been conducted using DNA from participants of European descent. And while humans of all races and ancestries are more than 99% genetically identical, even small differences in genes can make big differences in health outcomes.

“Precision medicine” is a term used to describe how genetics can improve the way diseases are diagnosed and treated by taking into account a person’s DNA, environment and lifestyle. Misa Graff, an associate professor of epidemiology at the University of North Carolina and a genetics researcher, says that if this emerging field of health care is based on research involving mostly white people, “it can be unwittingly misleading.”

In fact, this is happening right now. For example, in 2016, research found that some black patients were misdiagnosed with fatal heart disease because they tested positive for a genetic variant thought to be harmful. The research found that this type is much more common among black Americans than among white Americans, and is likely to be considered harmless among blacks. Misclassifications can be avoided if “even a small number of individuals from different populations are included in sequence databases,” the authors wrote.

The Genetics Research Project in Charleston requires participants to complete an online consent form and submit a saliva sample collected in person at a lab or event, or by mail. They don’t get paid for participating, but they do get a report detailing their DNA results. Those who test positive for a genetic marker linked to cancer or high cholesterol are offered a free virtual appointment with a genetic counselor.

Graf said some research projects require more time from their volunteers, which can skew the number of participants because not everyone has the luxury of free time. “We need to be more creative in how we get people to contribute to studies,” he said.

Moultrie said he recently asked project leaders to reach out to African American media outlets across the Palmetto State to explain how the genetics research project works and to encourage blacks to get involved. He also suggested that when researchers talk to leaders in the black community, such as church pastors, they should convince those leaders to enroll in the study, not push the message to their congregations.

We have new ideas. “We have ways we can do that,” Moultrie said. “We’ll get there.”

Other ongoing efforts are currently improving diversity in genetics research. At the National Institutes of Health, a program called “All of Us” aims to analyze the DNA of more than 1 million people across the country to create a diverse health database. The program has so far enrolled more than 790,000 participants. Of those, more than 560,000 provided DNA samples, and about 45 percent identified themselves as part of a racial or ethnic minority group.

“Diversity is so important,” said Kareem Watson, chief engagement officer for the All of Us research program. When you think about the groups that bear the greatest burden of disease, we know that these groups are often minority populations.

The diverse participation in All of Us did not happen by accident. NIH researchers strategically partnered with community health centers, religious groups, and black fraternities to recruit individuals historically underrepresented in biomedical research.

In South Carolina, for example, NIH partnered with Cooperative Health, a network of federally qualified health centers near the state capitol that serves many uninsured and black patients, to recruit patients for us all. Works. Eric Schlueter, Cooperative Health’s chief medical officer, said the partnership works because their patients trust them.

We have a strong history of integrating into the community. Many of our employees grew up and still live in the same communities we serve. “That’s what’s part of our secret sauce.”

So far, the health cooperative has enrolled almost 3,000 people in the research program, about 70 percent of whom are black.

“Our patients are just like any other patients,” Schlueter said. “They want to provide an opportunity for better health for their children and their children, and they recognize that this is an opportunity to do that.”

In theory, researchers at the NIH and the Medical University of South Carolina might be trying to recruit some of the same people for their own separate genetic studies, although nothing prevents a patient from participating in both efforts.

Researchers in Charleston admit they still have work to do. To date, In Our DNA SC has recruited about half of the 100,000 people it hopes for, and of those, about three-quarters have submitted DNA samples.

Caitlin Allen, a program researcher and public health researcher at the University of Medicine, acknowledged that some of the program’s tactics have not been successful in attracting many black participants.

For example, some patients scheduled to meet with providers at the Medical University of South Carolina receive an email through their patient portal prior to the appointment that includes information about participating in the research project. But studies show that racial and ethnic minorities engage less with their electronic health records than white patients, Allen said.

“We’re seeing low uptake with this strategy because many of the people researchers are trying to engage with probably aren’t getting the message,” he said.

The study involves four research coordinators who are trained to take DNA samples, but there is a limit to the number of people they can talk to face-to-face. “We can’t necessarily go into every room,” Allen said.

That being said, in-person social events seem to work well for signing up a variety of attendees. In March, In Our DNA SC research coordinators collected more than 30 DNA samples at a bicentennial event in Orangeburg, South Carolina, where more than 60% of residents identify as black. Between the first and second year of the research project, Allen said, our DNA SC doubled the number of these community events that the research coordinators attended.

“I would love to see it grow more,” he said.

This story originally ran on KHN.

KFF Health News is a national newsroom that produces in-depth journalism on health issues and is one of the core operating programs at KFF – an independent source of health policy research, polling, and journalism. Learn more about KFF.

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