
False-positive results by consumer genetic tests show importance of confirmation - sct202
https://www.nature.com/articles/gim201838
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sct202
_Results: Our analyses indicated that 40% of variants in a variety of genes
reported in DTC (direct-to-consumer) raw data were false positives. In
addition, some variants designated with the “increased risk” classification in
DTC raw data or by a third-party interpretation service were classified as
benign at Ambry Genetics as well as several other clinical laboratories, and
are noted to be common variants in publicly available population frequency
databases.

Conclusion: Our results demonstrate the importance of confirming DTC raw data
variants in a clinical laboratory that is well versed in both complex variant
detection and classification._

