High rate of false positives and misinterpretation of SNPs characterize direct-to-consumer genetic testing


Senior Member
Midwest USA
From Nature,
Genet Med. 2018 Mar 22. doi: 10.1038/gim.2018.38. [Epub ahead of print]
False-positive results released by direct-to-consumer genetic tests highlight the importance of clinical confirmation testing for appropriate patient care.

One recent study on such third-party companies found that several operate by querying publicly available databases, such as dbSNP, and reporting the classification provided in the database, despite reports that the majority of classifications in some publicly available databases are incorrect.6, 7

As a result, returned results may interpret particular single-nucleotide polymorphisms as pathogenic, even though clinical laboratories may classify the same variants as unknown significance, likely benign variants, or benign polymorphisms.

In addition, they are providing information to the consumer with the assumption that variants in the raw data are true calls and not false positives.
Full text here.