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

Stephany Tandy-Connor | Zendy; Jenna Guiltinan | Zendy; Kate Krempely | Zendy; Holly LaDuca | Zendy; Patrick Reineke | Zendy; Stephanie Gutierrez | Zendy; Phillip Gray | Zendy; Brigette Tippin Davis | Zendy

Open Access

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

Author(s) -

Stephany Tandy-Connor,

Jenna Guiltinan,

Kate Krempely,

Holly LaDuca,

Patrick Reineke,

Stephanie Gutierrez,

Phillip Gray,

Brigette Tippin Davis

Publication year - 2018

Publication title -

genetics in medicine

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 3.509

H-Index - 128

eISSN - 1530-0366

pISSN - 1098-3600

DOI - 10.1038/gim.2018.38

Subject(s) - concordance , false positive paradox , genetic testing , medicine , raw data , population , genotyping , personal genomics , food and drug administration , medical genetics , genomics , genetics , gene , genotype , computer science , biology , medical emergency , genome , environmental health , machine learning , programming language

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.

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