Study examines patients' perspectives on direct-to-consumer genetic tests

Patients who use direct-to-consumer (DTC) genetic testing often don't share their results with their primary care physicians (PCPs), a study found.

The study was performed using data from the PGen (Impact of Personal Genomics) Study, a large, longitudinal study of users of 23andMe and Pathway Genomics DTC genetic tests. The PGen Study is a collaboration among academic researchers at Brigham and Women's Hospital and Harvard Medical School, the University of Michigan School of Public Health, research scientists at the providers of the genetic tests, and survey experts. This study was funded by the National Human Genome Research Institute of the National Institutes of Health.

Researchers used an online survey before and 6 months after results were provided to measure consumer satisfaction with the DTC personal genome testing experience; whether and, if so, how results could be used to improve health; how many results were not understood; and beliefs about the PCP's understanding of genetics. Study results appeared in the March 1 Annals of Internal Medicine.

At baseline, 909 of 1,464 participants (62.1%) planned to discuss their results with a health care provider, including 814 (55.6%) who planned to discuss them with their PCP. Data on PCP discussion status at 6-month follow-up were available for 1,026 participants, of whom 646 (63.0%) and 586 (57.1%) reported at baseline that they planned to discuss their results with a health care provider or their PCP, respectively.

Among 1,026 respondents, 278 (27%) reported sharing their results with a PCP, 78 (8%) reported sharing their results with some other type of health care provider, and 670 (65%) reported not sharing them with any health care provider.

Genetic reports were available from 983 respondents (96%). The mean proportion of conditions designated as “elevated risk” on participants' reports based on their genetic profile was approximately 20%. For pharmacogenomic testing, the mean proportion of drug responses designated as “atypical” was 20% to 24%. Among participants who did not report sharing their results with a health care provider, 55 (8.5%) had concerns about the results becoming a part of their medical record, 269 (41.6%) did not believe that their results were important enough to share, and 248 (38.4%) still planned to discuss their results with a health care provider but had not yet had time to do so.

Of the 277 participants who shared their results with a PCP, 35% were very satisfied with the discussion, the study found. These participants most frequently reported that their PCP adequately understood genetics, was very willing to both discuss and use their results in their medical care, and did not differ in the interpretation of results from the company report.

The 18% of participants who were not at all satisfied with the discussion were the most likely to report that their PCP's interpretation of results differed from the company's interpretation, the study found. Among participants who reported a difference in interpretation between the report and their PCP, those who were very satisfied with the discussion seemed to trust the PCP and company interpretations equally, whereas those who were not at all satisfied seemed to put more trust in the company's interpretation.

A total of 159 participants who discussed their results with their PCP provided text explanations of their satisfaction level. Ten themes were identified, and the most frequent were “actionability/use in care” (how and whether the results could be or were used [32%]) and “engagement/interest” (that PCPs were interested and willing to discuss the results [25%]).

The study found that participants who were most dissatisfied with the PCP encounter were also the least likely to report high PCP willingness to discuss results. Many free-form responses described PCPs being unwilling or “afraid” to even look at the genomic reports. A patient's perception (whether correct or incorrect) that the PCP lacks competence in genetics could also undermine the patient's trust in the clinician, the authors said. They noted that regardless of whether consumers reported discussing their results, satisfaction with the decision to obtain testing was high, and “most participants agreed that it enabled them to learn about their genes without going through a physician.”

The authors of an accompanying editorial suggest that deceptive marketing messages create unrealistic expectations about the health benefits of at-home genetic tests. “DTC genetic testing is not the first (or the last) health product to generate unrealistic hopes,” the editorial stated. “The health system may be the best source of authoritative advice to counter the deceptive appeal of genetic risk prediction. Crafting the message will not be easy, but we believe that this challenge should not be neglected.”