More than 155,000 Americans who shared their DNA for science are about to learn something back: Do they have some particularly concerning genes?
It’s part of a massive project to unravel how people’s genetics, environments and habits interact to determine their overall health. The National Institutes of Health said Tuesday it is now beginning to inform participants about some early findings — if they carry variants that can cause one of 59 inherited diseases or cause medication problems.
Because not everyone with the same gene will have the same health outcome, sharing those results could lead to new discoveries.
“What are the drivers in that variability?” asked dr. Josh Denny, who directs the NIH’s “All of Us” study. “The way they change their behavior in response to the findings is something we can look at.”
All of Us is an unprecedented effort to reduce health inequalities and end the current one-size-fits-all care. Researchers aim to follow 1 million people from all walks of life for at least 10 years to better understand the complex combinations of factors that determine why one sibling gets sick and the other doesn’t, or why cures are needed for the other. one patient fails the other.
Volunteers share DNA samples, medical records, track fitness, and answer health questions. About 560,000 have enrolled so far — more importantly, nearly half from racial and ethnic groups traditionally excluded from medical research.
Such studies have traditionally been a one-way street: scientists learn a lot from volunteers who receive little personal information in return. But in an unusual move, All of Us participants can decide whether to learn health-related genetic findings long before the study is over.
“I shudder to think what could have happened if I hadn’t known this,” said Rachele Peterson, an NIH staff member who participated in the study.
An All of Us genetic counselor told the Philadelphia woman she was at increased risk for breast and ovarian cancer because of a gene called BRCA-2.
Peterson, who volunteered for All of Us before recently becoming the project’s chief of staff, didn’t realize this was a risk to her family.
The knowledge “empowers you to take charge,” said Peterson, who plans to discuss options with her own doctor, such as increasing breast cancer screening or considering ovarian removal as a precaution.
Denny estimated that 2% to 3% of study participants learn they have a known genetic variant that can cause certain cancers, heart disease, or other conditions. Many more will have genetic variants that affect how their bodies process certain drugs.
For the time being, participants will only receive findings that they can do something about, such as diagnosing earlier or changing medication. They get free confirmatory tests, genetic counseling, and help sharing the information with their doctors and family members.
But there is much more to learn. For example, the vast majority of disease-related genes were discovered by studying people of European descent. Very different variants may play a bigger role for other ancestors, said genetics expert Eric Venner of Baylor College of Medicine.
His team uses All of Us’ diverse genetic database to pick apart which differences are most important for which populations.
If new findings impact study volunteers, “we’ll keep things updated,” Denny said. “That’s the power of being able to talk to our participants and potentially work with them for decades.”
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