- This study is most relevant for anyone who might be considering or has had direct-to-consumer testing.
- In this study, the accuracy of test results from individuals who had direct-to-consumer testing and were reevaluated by a clinical laboratory to determine the accuracy of the direct-to-consumer genetic testing.
Strength of Science: Medium
- This study thoroughly evaluates two things- whether mutations reported in the direct-to-consumer tests are present (or not) and whether the disease risk of the reported mutations is accurate.
- This study is a retrospective case series and like all retrospective studies is limited by lack of information from initial reports and potential selection bias (e.g. how cases were referred to the clinical lab for testing).
- All participants had chosen to confirm their direct-to-consumer genetic test results. This introduces sample bias as it is not known why each participant wanted to confirm their prior results.
- The number of cases evaluated is small (49) so it is not clear how generalizable these results will be.
Research Timeline: Human Research
- It is not known which DTC genetic tests are reporting false positive or missing true positive inherited mutations. More research needs to be done on which DTC tests are reliable or not and why.