The Consequences of Sequencing Healthy People

The first randomized trial to examine whole-genome sequencing in healthy people uncovers disease-causing genetic variants, but the overall benefits to this population are ambiguous.

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Physicians are increasingly using patients’ genomic data to fight cancer or diagnose unexplained symptoms. But in individuals with no discernable signs of illness, it’s uncertain whether knowing their genomic blueprints is beneficial, and whether primary care physicians are up to the challenge of managing these data for their patients. In the first study of its kind to evaluate whole genome sequencing in a randomized fashion, published today (June 26) in the Annals of Internal Medicine, researchers report that although primary care physicians are capable of contending with genomic information, its value for healthy patients remains ambiguous.

“It comes down to the question: how many individuals do you wish to scare . . . in order to find that one individual that could be helped?” writes Harvard Medical School biomedical informatics professor Isaac Kohane in an email to The Scientist. He was not involved in the study but has previously collaborated with senior author Robert Green, a geneticist and physician at Harvard Medical School and Brigham and Women’s Hospital. “My own opinion is that if you are in good health, the clinical value is low and the risk is higher than most appreciate.”

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