Here’s What a Polygenic Test Can—And Can’t—Tell You About Your Health

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Iain R. Konigsberg, PhD, a research instructor of biomedical informatics at the University of Colorado Anschutz Medical Campus, tells SELF that if you have a high polygenic risk score for a disease, then it’s extra-important for you to lean into lifestyle choices that support your well-being and address the risk factors associated with that condition. Some research shows that when people know their polygenic risk, particularly when they have a high score for a specific condition, it motivates them to make daily choices that prioritize their physical and mental health (like not smoking, having regular checkups and screenings, eating heart-healthy foods, and exercising).2

There are a few potential drawbacks to polygenic tests. Finding out you’re at a high risk of developing a disease could have a very real psychological effect, says Dr. Konigsberg—it can be rough learning that you’re predisposed to a potential health issue. And, according to Dr. Berger, this may be especially true if there’s not much you can do to lower your risk (as is the case with some diseases, like Alzheimer’s) or learn you’re at risk for a type of cancer that might require preventative surgery (such as breast cancer). “Sometimes, the results can affect one’s stress level much more negatively than the potential benefit of the information,” Dr. Berger says.

This part is really crucial to keep in mind: Your polygenic risk score isn’t an end-all, be-all oracle about your health. It’s possible you could have a high genetic risk of a condition, like atrial fibrillation, but never develop it.2 There’s also a chance you could have a low polygenic risk score for, say, coronary heart disease, but develop it regardless due to other risk factors, says Dr. Konigsberg.

These tests—and the research on them—have also largely been used and conducted on white people, says Dr. Konigsberg.6 They might not be as precise for nonwhite people and could potentially exacerbate health disparities.2

So should you get a polygenic test?

There aren’t well-established guidelines on exactly who should get a polygenic risk score test (although that will hopefully become clearer in the coming years as research progresses, says Dr. Konigsberg). Some research suggests that these tests might be particularly useful for people with a family history of certain health conditions with hereditary components.7 If you have multiple family members who’ve had a stroke or sudden cardiac arrest, for example, you might want to know if you’ve inherited the genes that might be related to that. But a risk score may not be as revealing in someone who has, say, one relative who suddenly developed heart disease at age 85, because there just might not be a strong genetic aspect of their illness, Leslie Lange, PhD, a professor of biomedicine at the University of Colorado School of Public Health, tells SELF.

https://www.self.com/story/what-is-polygenic-risk-score

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