- This study evaluated the accuracy of test results from individuals who have had direct-to-consumer testing and been reevaluated by a clinical laboratory to determine their true genetic status.
- It is extremely relevant to YBCS who might be considering or who have had direct-to-consumer testing. This study thoroughly evaluates two aspects - whether reported mutations are present (or not) and whether the risk implications of the mutations reported are evaluated correctly.
- This study reported a retrospective case series and like all retrospective studies is limited by lack of information from initial reports and potential selection bias in how cases were referred to the clinical lab for testing.
- The participants for cases uses are well-specified. However, there are no controls with reports without mutation. The number of cases evaluated is small so it is not clear how generalizable these results will be.