Clinical Pathology Selected Abstracts, 10/13

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Direct-to-consumer genomic testing: impact at long-term followup

Direct-to-consumer genomic-wide testing is controversial, generating concerns related to lack of clinical utility as well as a lack of appropriate involvement by health care providers or regulatory oversight, or both of the latter. Additional concerns are related to the psychological or other harms that may result, including inappropriate burdening of the health care system. Impacting this debate was a longitudinal cohort study by the Scripps Genomic Health Initiative designed to assess the psychological, behavioral, and clinical impact of direct-to-consumer genomic risk testing for common diseases. The study involved participants who purchased a commercially available genomic test between 2008 and 2009 and were administered a series of Web-based health assessments to assess anxiety, diet, exercise, test-related distress, and health screening behaviors. Results showed no measurable impacts on any outcomes after a followup of six months. A subsequent study, detailed below, reported a longer term followup assessment of one year after the participants received their genomic test results. The authors administered baseline, short- (three-month), and long-term (one-year) followup Web-based assessments to adults who purchased the commercially available Navigenics Health Compass genomic test. Results from 2,240 study participants, including 1,325 who completed long-term followup, showed no significant differences in anxiety, fat intake, or exercise at participants’ long-term followup. Furthermore, 96.8 percent of the population had no test-related distress. Completion of screening tests was associated with sharing genomic test results with a physician at a rate of 36 percent and the perceived utility of the test at 61.5 percent, but neither was associated with the genomic risk estimate values. The authors concluded that genomic testing was not associated with long-term psychological risks, and most participants reported the test to be of high utility. Of interest, the sharing of genomic results with a physician was one of the only factors associated with a behavior change after genomic testing that resulted in a higher rate of health screening tests being completed. The authors emphasized that direct access to genetic testing, with physician availability and support as desired, may be an optimal approach.

Bloss CS, Wineinger NE, Darst BF, et al. Impact of direct-to-consumer genomic testing at long term follow-up. J Med Genet. 2013; 50:393–400.

Correspondence: Dr. Cinnamon S. Bloss at cbloss@scripps.edu