By Sy Mukherjee
April 2, 2018

Direct-to-consumer genetic testing services are booming in popularity. This past “Black Friday” holiday shopping weekend, 23andMe spit-and-send test kits ranked among the top 5 best-sellers on Amazon, as we reported in our recent health care big data feature. But a new study published in the journal Nature raises a critical question: Just how accurate are these burgeoning at-home DNA tests (such as 23andMe and others), which may well influence consumers’ personal health decisions?

The study, led by Ambry Genetics—a more traditional clinical diagnostics company—suggests that up to 40% of examined “variants in a variety of genes reported in DTC raw data were false positives.” A rough translation? Some of these at-home tests may suggest users are at risk for a condition they’re not actually at risk for.

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Ambry’s scientists’ research essentially suggests that clinical diagnostic companies offer a more clear picture of disease risk because they use a more comprehensive kind of genomic sequencing technology. And they emphasize that the possibility of false positives makes it critical for at-home kit customers to consult with a medical professional or genetic counselor before making any decisions about their health habits.

To be clear: regulatory agencies like the Food and Drug Administration gave blessing to 23andMe’s tests and accompanying health risk reports, concluding that the diagnostics were accurate enough and the reports clear enough that they can be marketed without a prescription.

DTC genetic test companies assert that their goal is to to empower patients. But others argue that such information requires a reliable, medical steward to confirm and properly interpret it. The debate about accuracy is one that’s likely to stick around.

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