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Genet Med. 2018 Dec;20(12):1515-1521. doi: 10.1038/gim.2018.38. Epub 2018 Mar 22.

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

Author information

1
Ambry Genetics, Aliso Viejo, USA, California. sconnor@ambrygen.com.
2
Ambry Genetics, Aliso Viejo, USA, California.

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. For each case identified, information pertaining to the outcome of clinical confirmation testing as well as classification of the DTC variant was collected and analyzed.

RESULTS:

Our analyses indicated that 40% of variants in a variety of genes reported in DTC 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.

KEYWORDS:

classification discrepancy; clinical confirmation direct-to-consumer; false positive; raw data

PMID:
29565420
PMCID:
PMC6301953
DOI:
10.1038/gim.2018.38
[Indexed for MEDLINE]
Free PMC Article

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