Huge US study begins sharing genetic findings with volunteers

More than 155,000 Americans who have shared their DNA for science are about to learn something back: do they have any particularly worrying genes?

It’s part of a larger project to find out how people’s genetics, environment and habits interact to determine their overall health. The National Institutes of Health said Tuesday it is now beginning to notify participants of certain early findings – whether they carry variants that can cause one of 59 inherited diseases or trigger medication problems.

Because not everyone with the same gene will have the same health outcome, sharing these results can spur new discoveries.

“What are the drivers of this variability? asked Dr. Josh Denny, who leads the NIH’s “All of Us” study. “How they change their behaviors in response to the results, we can look at that.”

All of Us is an unprecedented effort to reduce health disparities and end universal care today. Researchers aim to follow 1 million people from all walks of life for at least a decade to better understand the complex combinations of factors that determine why one sibling gets sick and not another, or why a treatment for one patient fails. another.

Volunteers share DNA samples, medical records, fitness tracking, and answer health questions. About 560,000 people have signed up so far – significant, almost half from racial and ethnic groups historically excluded from medical research.

Traditionally, these studies have been one-sided – scientists learn a lot from volunteers who get little personal information in return. But in an unusual move, All of Us participants decide whether they want to learn about health-related genetic discoveries, long before the study ends.

“I shudder a bit thinking about what might have happened if I hadn’t known,” said Rachele Peterson, an NIH employee participating 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 it was a risk to her family.

Knowledge “allows you to take charge,” said Peterson, who plans to discuss options with her own doctor, such as increased screening for breast cancer or whether to consider preventative removal of the ovaries. .

Denny estimated that 2-3% of study participants will learn they have a well-known genetic variant that can cause certain cancers, heart disease or other disorders. Many others will have genetic variants that affect how their body processes certain medications.

For now, only participants will receive results they can do something about, such as seeking an earlier diagnosis or switching medications. They will be offered 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-linked genes have been discovered by studying people of European descent. Vastly different variants may play a bigger role for other ancestors, said Baylor College of Medicine genetics expert Eric Venner.

His team is using the diverse All of Us genetic database to begin to distinguish which differences matter most to which populations.

If new findings affect study volunteers, “we’ll keep it updated,” Denny said. “It’s the power of being able to speak to our participants, in partnership with them for potentially decades.”


The Associated Press Health and Science Department is supported by the Howard Hughes Medical Institute Science and Education Media Group. The AP is solely responsible for all content.

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