Prescription medication changes following direct-to-consumer personal genomic testing: Findings from the Impact of Personal Genomics (PGen) Study

PGen Study Group

Research output: Contribution to journalArticle

6 Scopus citations


Purpose:To measure the frequency of prescription medication changes following direct-to-consumer personal genomic testing (DTC-PGT) and their association with the pharmacogenomic results received.Methods:New DTC-PGT customers were enrolled in 2012 and completed surveys prior to the return of results and 6 months after results; DTC-PGT results were linked to survey data. "Atypical response" pharmacogenomic results were defined as those indicating an increase or decrease in risk of an adverse drug event or likelihood of therapeutic benefit. At follow-up, participants reported prescription medication changes and health-care provider consultation.Results:Follow-up data were available from 961 participants, of whom 54 (5.6%) reported changing a medication they were taking or starting a new medication due to their DTC-PGT results. Of these, 45 (83.3%) reported consulting with a health-care provider regarding the change. Pharmacogenomic results were available for 961 participants, of which 875 (91.2%) received one or more atypical response results. For each such result received, the odds of reporting a prescription medication change increased 1.57 times (95% confidence interval = 1.17, 2.11).Conclusion:Receipt of pharmacogenomic results indicating an atypical drug response is common with DTC-PGT and is associated with prescription medication changes; however, fewer than 1% of consumers report unsupervised changes at 6 months after testing.

Original languageEnglish (US)
Pages (from-to)537-545
Number of pages9
JournalGenetics in Medicine
Issue number5
StatePublished - May 1 2017


All Science Journal Classification (ASJC) codes

  • Genetics(clinical)

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