HealthDay News — Whole-genome sequencing of healthy people reveals that while some are at risk for rare genetic diseases, the implications remain unknown, according to a study published in the Annals of Internal Medicine.1

Researchers analyzed nearly 5000 genes associated with rare genetic conditions in 50 healthy people. The investigators found that 11 of the people — almost one-quarter — had gene variants predicted to cause previously undiagnosed rare diseases.

Two of those 11 patients had signs or symptoms of the underlying conditions. One had variants linked to fundus albipunctatus. The second had a variant associated with variegate porphyria, which explained the patient’s rashes and sun sensitivity.

The other 9 patients had no evidence of the diseases predicted by the genetic testing. For example, 2 patients had gene variants associated with heart rhythm abnormalities, but their hearts showed no signs of problems.

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“In conclusion, we found that about one in five generally healthy patients receiving whole-genome sequencing results in a primary care setting had a new molecular diagnosis, and only one in 25 had a new clinical diagnosis,” the authors write.

“Although some primary care physicians may be able to manage the results appropriately, whole-genome sequencing may prompt additional clinical actions without evidence of short-term distress or clinical utility.”

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  1. Vassy JL, Christensen KD, Schonman EF, et al. The impact of whole-genome sequencing on the primary care and outcomes of healthy adult patients: a pilot randomized trial. Ann Intern Med. 2017;167(3):159-169.