The Quinton Tompkins family tree is deeply rooted in rural McCormick County, South Carolina.
His grandfather was a shareholder in McCormick. His mother, who turned 88 this month, grew up to be the youngest of 24 children. The branch of aunts, uncles and cousins now extends from Florida to Chicago.
And while 48-year-old Tompkins has heard a lot of stories, his family has kept it a secret.
He did not know that his grandfather had died of leukemia until he was an adult. And she’s still not sure if her father’s family is battling prostate cancer. Tompkins’ mother and her siblings have dealt with a variety of health problems, including diabetes, heart attack and stroke, but she still doesn’t know what killed her grandmother more than 70 years ago.
“These are questions I have personally asked,” said Tompkins, a lobbyist at South Carolina Medical University. “There’s another way to know where you’re from.”
Twenty-two years ago, President Bill Clinton announced the completion of a “draft version” of the Human Genome Project, a breakthrough that he described as “the language in which God created life.” He predicted that scientists, equipped with genetic discoveries, would find cures for Alzheimer’s disease, cancer, Parkinson’s disease and diabetes in the coming years.
Clinton’s prediction, however, has not yet been fulfilled. But researchers in Charleston are optimistic that a large-scale genetics research project running across South Carolina could help scientists address some of the state’s persistent health inequalities, which have an disproportionate impact on its black population and regularly rank among the nation’s worst.
In a bid to better understand how DNA affects health, the university’s health care system wants to enroll 100,000 of South Carolina’s 5 million residents in genetic testing over the next four years. Researchers want to recruit participants who reflect the diversity of the state’s population.
It is an ambitious goal. With approximately 27% of South Carolina residents identified as black or African American, the MUSC genetics research project, known as “Our DNA SC,” will, if successful, accomplish something that most other genetics research projects have failed to do. Historically, the participation in such studies has been very low.
“There is a belief factor. It’s simple and easy, “said Tompkins, who is developing an outreach program for the project.
He mentions Henrietta Lacs, a black woman in Baltimore whose cells were used for research by doctors at Johns Hopkins University in the 1950s without her or her family’s knowledge, and Tuskegee syphilis research conducted for nearly 40 years, beginning in the 1930s. The researchers deceived hundreds of black men enrolled in the study, telling them that they were being treated for syphilis when, in fact, they had not been treated even after penicillin became widely available.
“These are still fresh in people’s minds,” Tompkins said. “We’ve come a long way from those stories – it doesn’t rule out what happened – but there’s a lot more control and supervision to keep those things from happening again.”
But history alone does not feed this disbelief. In medicine today, bias and racism contribute to the problem.
The diversity in genetics research is so small that about 90% of the participants in projects starting with the first sequencing of the human genome are people of European descent or those identified as white, said Dr. Shoa Clark, a pediatric cardiologist and geneticist at Stanford University.
These numbers affect real life healthcare. Clark and others published research last year that shows that a DNA-based tool used to assess a patient’s risk of developing high cholesterol only works reliably well when administered to people of Northern European descent. This is because the tool was created using information from a genetic “bio-bank” that is basically made up of white human DNA. And with the exception of a large DNA bank compiled by the Department of Veterans Affairs, this is generally the norm.
Humans, regardless of race, are more than 99% genetically identical, but small mutations and mutations across generations can greatly affect health outcomes, Clark explained.
“Genetics is not the cause of health inequality,” he said. “But as we move toward using genetics in clinical settings, it is very possible that they could create new differences.”
In South Carolina, health inequalities between black and white patients are already acute, says Marvella Ford, a researcher at the Hollings Cancer Center at MUSC in Charleston.
“South Carolina – compared to the rest of the country – we’re usually at a lower level,” Ford said. The death rate from prostate cancer in South Carolina, for example, is 26 times higher for black men than for white men, she said.
“When you look at most other chronic conditions,” he said, “you see the same thing.”
“There’s a debate about how we should do this,” said Shawnika Calliar, an attorney and associate professor of bioethics at George Washington University. “There is so much diversity in Africa. This is the cradle of humanity. “
The men and women transported to Charleston and other American port cities during the transatlantic slave trade came from large parts of Africa – mostly from West Central Africa, but also in large numbers from the far north. Once in America, they were often isolated and forced to live hundreds of miles away. This explains why someone whose ancestors lived on Barrier Island in South Carolina may have inherited a different genetic diversity from a multi-generational black family in McCormick County, just north of Augusta, Georgia.
That’s why classifying participants in genetics research as simply “black” or “African American” without further ado may not provide particularly useful research insights, Calier says.
“If you don’t study the data and don’t study it well, it’s a real disregard for ethical responsibility,” Calliar said.
Those who choose to participate in the MUSC project will directly benefit from it, its organizers say. After submitting the saliva sample, each participant will receive a report on whether they have one or more of the three genetic conditions that may put them at higher risk for heart disease and some cancers – such as one of the BRCA mutations associated with breast cancer. If they test positive for one of these conditions, they will be attached at no cost to a genetics counselor who can provide information on the patient’s inherited risk information and treatment options. Participants will also learn where their ancestors probably lived.
The de-identified DNA data will then be used by MUSC researchers, as well as Helix, a private California-based genomics company, which will process saliva samples and extract genetic information from each participant’s sample. Researchers at MUSC and Helix have indicated that they hope to use the results to better understand how DNA affects the health of the population. Heather Woolwine, a spokeswoman for MUSC, said the project would cost 15 million, some of which would go to Helix. The hospital will fund the revenue research, he said.
Tompkins hopes to get a lot of questions about how this will work. But he is used to asking questions. He said he faced the same dilemma when he helped set up MUSC covid testing and vaccine sites across the state. Many people – regardless of race – are concerned about the microchip or tracking technology embedded in the covid vaccine, he said.
Tompkins observed that the key to persuading residents in rural parts of the state to consider the covid vaccine was to look for invitations from trusted local leaders, then set up events with them. South Carolina’s covid vaccination rate is lower than the national average, but Tompkins says some skeptics are more receptive to the MUSC’s message because the hospital system is focused on building relationships with organizers outside of Charleston. He hopes to use those relationships to spread the word about new genetics research projects.
“You need to build those relationships and find community champions who can help you open doors and gather people,” he said. Then, it’s about “letting them choose”.
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