Association of direct-to-consumer genome-wide disease risk estimates and self-reported disease

Authors

  • Cinnamon S. Bloss,

    Corresponding author
    • Scripps Genomic Medicine, Scripps Translational Science Institute, La Jolla, California
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  • Eric J. Topol,

    1. Scripps Genomic Medicine, Scripps Translational Science Institute, La Jolla, California
    2. Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California
    3. Scripps Clinic Medical Group, La Jolla, California
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  • Nicholas J. Schork

    Corresponding author
    1. Scripps Genomic Medicine, Scripps Translational Science Institute, La Jolla, California
    2. Department of Molecular and Experimental Medicine, Scripps Research Institute, La Jolla, California
    • Scripps Clinic Medical Group, La Jolla, California
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Correspondence to: Nicholas J. Schork, Scripps Translational Science Institute, 3344 N. Torrey Pines Court, Suite 300, La Jolla, CA 92037 and Cinnamon S. Bloss, Scripps Translational Science Institute, 3344 N. Torrey Pines Court, Suite 300, La Jolla, CA 92037

Abstract

The ongoing controversy surrounding direct-to-consumer (DTC) personal genomic tests intensified last year when the U.S. Government Accountability Office released results of an undercover investigation of four companies that offer such testing. Among their findings, they reported that some of their donors received DNA-based predictions that conflicted with their actual medical histories. We aimed to more rigorously evaluate the relationship between DTC genomic risk estimates and self-reported disease by leveraging data from the Scripps Genomic Health Initiative. We prospectively collected self-reported personal and family health history data for 3,416 individuals, who went on to purchase a commercially available DTC genomic test. For 5 out of 15 total conditions studied, we found that risk estimates from the test were significantly associated with self-reported family and/or personal health history. The five conditions included Graves' disease, Type 2 Diabetes, Lupus, Alzheimer's disease, and Restless Leg Syndrome. To further investigate these findings, we ranked each of the 15 conditions based on published heritability estimates and conducted post hoc power analyses, based on the number of individuals in our sample who reported significant histories of each condition. We found that high heritability, coupled with high prevalence in our sample and thus adequate statistical power, explained the pattern of associations observed. Our study represents one of the first evaluations of the relationship between risk estimates from a commercially available DTC personal genomic test and self-reported health histories in the consumers of that test. Genet. Epidemiol. 36 : 66–70, 2012. © 2011 Wiley Periodicals, Inc.

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