1. In this prospective study of patient attitudes towards personal genomic testing results, only 35% of patients discussed it with a health care provider within 6 months of receiving results.
2. The satisfaction of such discussions was related to the ability to use the results in care, the provider engagement with or interest in personal genomic testing, and the perception that providers lacked knowledge about the meaning of the results.
Evidence Rating Level: 2 (Good)
Study Rundown: Personal genome testing (PGT) services, such as tests from 23andMe and Pathway Genomics, provide individuals with personalized genetic information, ranging from ancestry to genetic disease risk. Although these tests can be purchased over the counter and carried out in the privacy of one’s home, patients may share their results with health care providers. Yet despite increasing availability of these tests, perceptions about sharing PGT results with providers has been previously unexplored. This study surveyed individuals who used PGT services, specifically asking them about their decision to discuss their PGT results with providers, and their experiences surrounding these discussions. Although at baseline the majority of participants planned to discuss their results with providers, most had not done so within 6 months of receiving their test results. Among participants who did report their results to providers, most reported being somewhat or very satisfied with the resulting discussion. Themes related to satisfaction with the discussion included perceived usability of the results, perceived provider engagement with or interest in PGT, and perceptions about the provider’s knowledge about PGT and the significance of results. This study was limited in that it did not evaluate providers’ attitudes about PGT or determine significant predictors of decisions valuable to providers, instead relying only upon descriptive statistics. Additionally, low rates of survey responses may also have biased these findings. Overall, this study provides an initial description of how PGT users perceive discussing results with providers, and further research on incorporating PGT results into clinical care will be needed as these tests become more common.
In-Depth [prospective cohort]: This study assessed patients’ attitudes and experiences surrounding discussions of PGT results with health care providers. Participants had purchased PGT services from either 23andMe or Pathway Genomics, and completed internet-based surveys 2 weeks and 6 months after receiving genetic testing results. Among the 1026 survey respondents, 27% reported having shared results with a primary care provider, and 8% reported sharing results with another health care provider. The percentage of participants who had “elevated” disease risk, as detected by the PGT, was similar among those who discussed their results with providers and those who did not. The most common reasons for not sharing results with a provider included feeling that the results were not important enough to bring up (40%), or that there was not enough time to do so (37%). Most participants who reviewed their PGT results with providers were “somewhat” (46%) or “very” (35%) satisfied with the discussion; most participants who were “not at all” satisfied with the discussion felt that their providers were unable to advise them on the implications of their results and were unwilling to use the results as part of their medical care.
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