Twenty-seven percent of patients who purchased direct-to-consumer personal genomic testing in a large cohort study shared their results with their primary care providers, often looking for him or her to translate the complex and vague findings into simple, concrete health care advice, according to a report published online Feb. 29 in Annals of Internal Medicine.
A significant portion – 18% – of these patients came away feeling very dissatisfied with the provider’s response. They reported that the clinician’s interpretation of the results didn’t accord with the company’s interpretation, that the clinician didn’t adequately understand genetics, or that the clinician was unwilling to discuss the results or apply them to the medical care, said Cathelijne H. van der Wouden of Harvard University, Boston, and the University of Utrecht (the Netherlands), and her associates.
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“All primary-care providers 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,” they said.
The investigators performed what they described as the first large, longitudinal study to describe patients’ experience with commercially available genomic testing: the Impact of Personal Genomics (PGen) study. They characterized it as an “academia-industry partnership” among researchers at Harvard; Brigham and Women’s Hospital; the University of Michigan School of Public Health; 23andMe; Pathway Genomics; and SoundRocket, a scientific survey group. They focused on 1,026 adults who underwent genomic analysis, which included genetic testing for approximately 25-30 disease-risk and pharmacologic risk factors, during a 5-month period. These patients reported their experience in detailed surveys at baseline and 6 months after receiving their genomic test results.
According to these tests, the participants were found to be “at elevated genetic risk” for a mean of 20% of the 25-30 medical conditions assessed. Approximately 20%-24% of the time, participants were predicted to have an “atypical” response to 8-9 medications assessed.
Most patients were “highly satisfied” with their decision to undergo genomic testing.
A total of 278 respondents (27%) reported that they shared their results with their primary care providers and another 78 (8%) did so with another health care provider such as a physician assistant/nurse, ob.gyn., cardiologist, oncologist, neurologist, psychiatrist/psychologist, rheumatologist, endocrinologist, or immunologist. Thirty-five percent of these respondents said they were very satisfied with this discussion, while 18% said they were “not at all satisfied.” Some of the dissatisfied patients said their clinicians were unwilling or “afraid” to even look at the test results, Ms. Van der Wouden and her associates said (Ann Intern Med. 2016 Feb 29. doi: 10.7326/M15-0995).Another reason for dissatisfaction may be that primary care providers didn’t act on a result patients felt was important, “even though such inaction may have been medically appropriate (for example, in the case of an increased risk for Alzheimer’s disease, bipolar disorder, or leukemia). Some patient dissatisfaction may stem from the disconnect between how companies market (and their customers perceive) the utility of [personal genomic testing] and how the medical community describes (and its members perceive) this utility,” the investigators added.