Clinical Chemistry: Assessing Direct-to-Consumer Genetic Testing (Update)
Update: Video interview with Dr. Baudhuin has been added
In the May issue of Clinical Chemistry, Linnea Baudhuin, Ph.D., of the Mayo Clinic, assesses 23andMe, one of the largest direct-to-consumer (DTC) genetic testing facilities, and its Personal Genome Service (PGS) test. The facility was ordered by the U.S. Food and Drug Administration (FDA) to cease marketing of its PGS test on Nov. 22, 2013, because 23andMe failed to respond to questions from the FDA about the analytical and clinical validity of the test.
In this piece, Baudhuin analyzes the shortcomings of the PGS test. One of her main critiques is that it is not a comprehensive genetic analysis, a limitation about which many consumers are not aware. Though many medical conditions might be associated with a long list of pathogenic mutations, sometimes numbering in the thousands, the PGS test only detects a small percentage of these.
According to Baudhuin, "Direct-to-consumer companies should have a sense of responsibility to provide tests that are only clinically valid and can be used in ways to provide information about diagnosis, treatment, management, or prevention of a disorder. Including a large group of incomplete and/or meaningless tests with unvalidated risk calculations confuses the consumer, demeans the overall test, and contributes to wasted healthcare time and money."