The Huffington Post recounts the cautionary story of Julie Kennerly-Shah and Summit Shah who underwent direct-to-consumer genetic testing via 23andMe and uploaded their raw data to Promethease. That third-party analysis company uncovered two serious variants within Kennerly-Shah's data: one linked to Lynch syndrome and another to familial hypertrophic cardiomyopathy, it adds.
Kennerly-Shah and Shah were out of the country on a medical mission — she's a pharmacist and he is a physician — when the results popped up and had to wait to see a genetic counselor, but in the meantime, the Huffington Post adds they were scared and anxious, but did research and made a plan that involved moving up when they planned to have children.
But, it adds, it turned out that Kennerly-Shah's results were false positives. And that may be fairly common, as a recent analysis from Ambry Genetics appearing in Genetics in Medicine found 40 percent of DTC results sent to them for confirmation testing were false positives.
Kennerly-Shah tells the Huffington Post that she hopes others learn from her experience. "Our concern is, how do we get this information out to the general public who may be getting ready to experience something similar?" she adds.