ISTOCK, STEVANOVICIGORA small study of direct-to-consumer (DTC) genetic tests, conducted by clinical diagnostics company Ambry Genetics, found that 40 percent of the variants identified were false positives. The authors of the study, which appears today (March 28) in Genetics in Medicine, also note that among the variants that had been flagged as bringing increased risk of disease—either by the DTC testing companies or third-party interpretation services—eight were in fact benign.
“Such a high rate of a false positives in this particular study was unexpected,” says study coauthor Stephany Tandy-Connor of Ambry Genetics, in a statement. She notes that differences in testing methods may explain some of the differences between Ambry’s results and those of the DTC testing companies.
Companies such as 23andMe and ancestry.com offer consumers what are sometimes known as recreational tests, typically through the mail, with no need to go through a doctor or genetic counselor. While the summary of results may include information on ancestry or traits such earwax consistency, the authors of the study note that the US Food and Drug Administration prohibits most DTC testing companies from providing results with medical implications. However, some companies do offer raw testing data, ...
