False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

ABSTRACT:

Purpose

There is increasing demand from the public for direct-to-consumer (DTC) genetic tests, and the US Food and Drug Administration limits the type of health-related claims DTC tests can market. Some DTC companies provide raw genotyping data to customers if requested, and these raw data may include variants occurring in genes recommended by the American College of Medical Genetics and Genomics to be reported as incidental/secondary findings. The purpose of this study was to review the outcome of requests for clinical confirmation of DTC results that were received by our laboratory and to analyze variant classification concordance.

Methods

We identified 49 patient samples received for further testing that had previously identified genetic variants reported in DTC raw data.

SUBMITTER: Tandy-Connor S 

PROVIDER: S-EPMC6301953 | biostudies-literature | 2018 Dec

REPOSITORIES: biostudies-literature