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Risk Variants Among the Healthy

Researchers are increasingly examining the genomes of healthy individuals for genetic indicators of disease risk, the Boston Globe writes, but it notes that this shift in approach makes returning results trickier.

More than 103,000 people have given blood samples to Partners HealthCare's Biobank and researchers there have uncovered genetic variants that increase disease risk in more than 300 people, according to the Globe. Likewise, researchers at Geisinger Health have analyzed DNA from more than 64,000 individuals to find risk variants in about 1,000 people. The hope is to identify people before they become ill.

But giving genetic risks results back to healthy people can be complex, as some people may welcome the extra information while others may become anxious because of it. Additionally, as many of these risk genes have been identified in people with a family history of disease, the evidence for their role in disease among a broader population is limited, the Globe adds, noting that these findings could lead to over-diagnosis and -treatment.

"In my case, it was a good thing," Kristine Trudeau, who learned of her BRCA variant after giving a blood sample to Partners' biobank, tells the Globe. "But I don't think it's for everyone. Some people just don't want to know."