A recent op-ed by genetic counselor Laura Hercher illuminated a sticky situation in which more and more consumers find themselves. Matt Fender ordered a spit kit from direct-to-consumer (DTC) genetic testing company 23andMe, downloaded his raw data, and ran them through a third-party service called Promethease, which can help consumers make sense of their raw data. Fender’s Promethease report highlighted a genetic variant in the raw data that, if truly present, would place him at very high risk to develop an early-onset form of Alzheimer’s disease and would alter the course of his life.
Fender found himself in a gap where thousands before him have fallen and where even more will end up if the estimates that 100 million consumers will have DTC genetic testing by 2021 are correct. Namely, he had information in his hands that could be either accurate medical information or dead wrong.
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