The Not-So-Precise Side of Precision Medicine

Two recent studies have highlighted issues related to the reliability of genetic testing, and a lack of genomic data from minority populations.

The launch of the Precision Medicine Initiative in 2015, along with this year's Cancer Moonshot, have touted the promise of genomic data for population health and more personalized diagnosis. As a result, more consumers are seeking genetic testing and more researchers are contributing to these initiatives.

But the healthcare industry isn't necessarily prepared for this shift. The popularity of genetic testing doesn't come without risks, according to Mayo Clinic's recent report, The Promise and Peril of Precision Medicine. Mayo's report analyzed the story of a family whose young son died suddenly. In response, the family underwent genetic testing and 20 family members were told they had a rare condition – including the couple's other son who had a heart defibrillator implanted.

It turns out, the commercial genetic tests were wrong. No one in the family had the rare condition, and the other son didn't require surgery. The conclusion from Mayo's researchers: The answers found through genetic testing aren't always what they appear, and there are some major flaws with genetic testing, including with whole-exome molecular autopsy...