Problems with precision medicine tools can have 'devastating consequences'

Precision medicine initiatives have largely been supported with enthusiasm. However, serious problems with the databases that are used to interpret patients' genes can steer physicians toward "inappropriate treatment" options that can produce "devastating consequences," warned Mayo Clinic researchers Monday, STAT reported.

A report from Rochester, Minn.-based Mayo Clinic details the cases of roughly two dozen people who were incorrectly told they had a potentially fatal illness and one who had a heart defibrillator surgically implanted but didn't actually need it, according to the report. The individuals had all undergone genetic testing after a young relative died of a heart condition. Test results showed they carried a gene for a heart mutation and the database the testing company used concluded it was a serious condition.

Along with his team, Michael Ackerman, MD, PhD, a genetic cardiologist at Mayo, led a reanalysis with a more modern genetic database and found the mutation is harmless and the invasive treatment was unnecessary.

"This is the proverbial dark side of genetic testing and precision medicine," said Dr. Ackerman, according to STAT. Because databases that genetic testing companies use to interpret DNA tests often contain errors, "we're starting to see a lot of fumbles," with physicians telling patients they have disease-causing genetic mutations when they really do not.

Other experts have raised concerns about the databases being used for precision medicine. According to Michael Watson, executive director of the American College of Medical Genetics and Genomics, until recently most genetics research focused on the U.S and western Europe, meaning data from this research may not apply to other populations,

Read the full report here.

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