Analysis questions accuracy of direct-to-consumer genetic test results

Researchers from Ambry Genetics analyzed how accurate those DTC test results are. They found that two out of every five samples sent to them for confirmation testing were false positives. “Such a high rate of a false positives in this particular study was unexpected,” first author Stephany Leigh Tandy-Connor, a genetic counselor at Ambry, said in a statement. “While DTC results may lead to healthy changes in lifestyle or diet, these could also result in unwarranted emotions, including anxiety when someone obtains unexpected information, inaccurate information, or disappointment when receiving a lack of comprehensive diagnostic analysis.” Most of the false-positive calls — 94.1 percent — were of cancer-linked genes, the researchers reported. In some of these cases, the variants were misclassified in the raw data or by the third-party interpretation service.

https://www.nature.com/articles/gim201838