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To Worry or Not?

In an op-ed appearing in the New York Times, Sarah Lawrence College's Laura Hercher warns that more and more people are going to need guidance in teasing out what their consumer genetic testing results mean.

Hercher recounts the story of a 32-year-old man who underwent testing by 23andMe and uploaded his raw data to Promethease to find that he had a mutation in the PSEN1 gene that greatly increased his chances of developing early-onset Alzheimer's disease. But, she says, he also took a test from Ancestry, and when that raw data was uploaded to Promethease, it said he did not have a pathogenic variant. A clinical test later showed he did not have the pathogenic mutation, she adds.

Hercher writes that his experience may be a glimpse of what's to come, as the US Food and Drug Administration has made it easier for consumer genetic companies to market some health risk tests. And that, she adds, is more regulation than what governs third-party services like Promethease.

"His story, as bad as it was, could have been much worse. He had both the temperament and the skill to gather crucial information in a relatively short time," Hercher writes. "A person with fewer resources or different inclinations might have lived for years under that cloud, waiting to get sick."