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

Abstract

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 return of results and 6 months post-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 which 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 ≥1 atypical response result. 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 atypical drug response is common with DTC-PGT, and associated with prescription medication changes; however, fewer than 1% of consumers report unsupervised changes at 6 months post-testing.

Pharmacogenomics‐Based Point‐of‐Care Clinical Decision Support Significantly Alters Drug Prescribing

“…In this sense, one could strongly argue that future examinations of pharmacogenomic implementation—including perhaps pragmatic clinical trials—might not only need to measure patient outcome benefits for individual drug-gene pairs, but also should consider physician utilization as a potential indicatory benchmark of utility. The role of the patient in potentially influencing physician prescribing behavior must also be considered(35). …”

Updating the landscape of direct-to-consumer pharmacogenomic testing

“…Through review of the scientific and gray literature, 12 companies were identified that previously offered direct-to-consumer pharmacogenomic testing. 5 , 6 , 9 However, only one – 23andMe ( Table 1 ) – currently offers direct-to-consumer testing. Of the remaining 11, 7 of the companies no longer offer testing.…”

“…Results from the Impact of Personal Genomics (PGen) Study, which recruited patients who had received direct-to-consumer testing through 23andMe or Pathway Genomics, showed that 91% of patients received an atypical drug metabolism result and 20% of patients discussed their genetic results with their primary care provider. 9 , 10 However, direct-to-consumer testing has been marred with controversy. Concerns of test validity and quality, misinterpretation of results, and the potential for inappropriate medical decisions and health care services dampened enthusiasm.…”

“…Concerns of test validity and quality, misinterpretation of results, and the potential for inappropriate medical decisions and health care services dampened enthusiasm. 6 , 9 , 11 In addition, pharmacogenomic testing is highly complicated. The prevalence of defective alleles is ethnicity-dependent, and inclusion of specific alleles in pharmacogenomic tests differs by company.…”

Direct-to-Consumer Genetic Testing: User Motivations, Decision Making, and Perceived Utility of Results

“…However, we report here on only a subset of the measures administered in the larger PGen Study, as summarized in Table 1 . The reader is referred to our previously published work for findings on other study outcomes including comprehension of test results [14] , changes in disease risk perceptions [17] , changes in prescription medication use [18] , and use of primary care services following testing [19] .…”