Many physicians are interested in using genomic profiling in patient care, but many believe they are unprepared to do so.
A decade after the introduction of personal genome testing (PGT) sold directly to consumers, these tests are growing increasingly popular, which has implications for primary care physicians (PCPs) when consumers wish to consult them about their test results. These tests provide a range of personalized genetic information, including disease predisposition and how genes affect an individual’s response to medications (pharmacogenomics).
Although PGTs do not require the participation of medical providers for interpretation of results, there are concerns that the complex results may create confusion and anxiety and even unnecessary use of health services among consumers. Studies suggest that many physicians are interested in using genomic profiling in patient care, but many believe they are unprepared to do so.
A new study by Cathelijne H. van der Wouden, BSc, and colleagues at Brigham & Women’s Hospital/Harvard Medical School and the University of Michigan School of Public Health, examined which consumers shared the results of their PGTs with physicians and what the implications might be for more widespread use of PGTs. Their findings were published in the Annals of Internal Medicine on March 1, 2016.
The study surveyed 1026 consumers who ordered and received the results of PGTs from 23andMe (Mountainview, CA) and Pathway Genomics (San Diego, CA). 23andMe participants received risk estimates for 29 conditions and Pathway participants received estimates for 25 conditions. Males received 8 pharmacogenomic results and females received 9. Consumers were surveyed at baseline and 2 weeks and 6 months after disclosure of PGT results.
Although 63% of study participants stated that they planned to share their results with their PCPs, at the 6-month follow-up only 27% reported having done so and 8% reported sharing with another healthcare provider only. Commonly stated reasons for not sharing results with a healthcare provider were that the results were not important enough (40%) or that the study participant did not have time to do so (37%). Among participants who did discuss results with their PCP, 35% were very satisfied with the encounter and 18% were not at all satisfied. Among participants who did not report sharing their results with a healthcare provider, 8.5% had concerns about the results becoming part of their medical record.
Most participants who shared results with a healthcare provider said their health was very important in their decision to order PGTs—these participants frequently were women, did not have a college degree, were parents, had a positive screen for baseline anxiety, and were Pathway customers.
Participants who reported sharing their results with a PCP more frequently reported being extremely satisfied with their decision to obtain the testing and less likely to express concerns about their results being added to their medical record. Regardless of whether consumers reported discussing their results with their healthcare providers, satisfaction with their decision to get the PGTs was high; most participants agreed that PGT allowed them to learn about their genes without going through a physician.
“Given the increasing importance of genetic considerations in primary care over the past decade, and repeated calls for physician education initiatives in genomics, all PCPs should have adequate clinical skills to at least engage in a discussion about genetic testing that describes its benefits and limitations and provides an account of why further action is or is not recommended,” the authors noted.