Patients Rate Physicians' Responses to DTC Genomic Testing

Ricki Lewis, PhD

February 29, 2016

Marketing of direct-to-consumer (DTC) personal genomic testing products sets up unrealistic expectations among patients and challenges healthcare providers (HCPs) with interpreting and explaining results, according to a report published online March 1 in the Annals of Internal Medicine.

Cathelijne H. van der Wouden, BSc, from Utrecht University in the Netherlands, and colleagues report findings from the Impact of Personal Genomics (PGen) Study. This large, longitudinal investigation includes individual DNA-based findings and survey results from people who used DTC tests from either 23andMe or Pathway Genomics. The study considered tests most likely to lead to clinical follow-up, such as pharmacogenomic and specific disease risk tests. The researchers developed relative risk scores on the basis of the scales of severity the two companies used.

Overall, 1838 23andMe and 589 Pathway Genomics customers agreed to participate. Of those, 1046 (71.4%) completed surveys at 2 weeks after testing and 1042 (71.2%) did so 6 months after testing. At 6 months, participants were asked with whom they had discussed test results (primary care provider [PCP], genetics specialist, other medical professional), satisfaction with the testing experience, how many results were not understood, how they perceived their PCP's comprehension of genetics, and whether test results could be used to improve health or learn about genes without a HCP's input.

Although 909 of the eligible participants (62.1%) said at baseline that they planned to discuss results with a HCP, only 278 (27%) of those who responded at 6 months had done so with their PCP, 78 (8%) with another HCP, and 670 (65%) with none. The primary reason for sharing the data was to improve health.

Reasons for not sharing results with a HCP included the perception that results were not important enough to report (269; 41.6%), lack of time but intention to do so (248; 38.4%), and concerns about test results becoming part of the medical record (55; 8.5%).

Although largely satisfied with the testing experience, participants did not have great confidence in the ability of HCPs to interpret results. In response to the statement "I believe my PCP understands genetics well enough to advise me on the implications of my results for my health," only 43 (15.5%) of 278 participants who discussed results with their PCP checked "strongly agree, as did 7 (9.0%) of 78 patients who discussed results with a different HCP and 52 (7.8%) of 670 patients who did not discuss findings with any HCP.

Moreover, among the participants who discussed DTC genetic test results with their PCP, 51 (18.4%) were "not at all" satisfied, 128 (46.2%) were "somewhat" satisfied, and 98 (35.4%) were "very satisfied." The authors note that the participants who were not at all satisfied with their primary care discussions were more likely to report that the physician's interpretation of the results differed from the company's interpretation and "seemed to put more trust in the company's interpretation."

Recurring themes among participant descriptions of encounters with physicians were actionability of test results or use in care (32%), PCP engagement or interest (25%), and lack of PCP engagement or interest (22%). Several statements mentioned too brief a time with the HCP to discuss results and negative reactions, such as, "PCP — backed away from the report like it was something to be afraid of...lacked training in this area and preferred not to review and discuss." At least one participant said his or her HCP regarded the results as "entertainment."

The researchers conclude, "[A]ll 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 note several study limitations, including the voluntary nature of the survey, nonresponse rate at 6-month follow-up, and consumer bias.

In an accompanying editorial, Wylie Burke, MD, PhD, and Susan Brown Trinidad, MA, from the University of Washington, Seattle, contrast marketing promises from the testing companies with clinical reality. As an example, they cite the greater predictive value of body mass index for type 2 diabetes risk compared with that of 49 gene variants, and the difficulty of translating genetic risk information into behavior change. Yet "[m]ost study participants were motivated by the desire to improve their health, and a third believed that many or all of their results could be used to improve their health," they write.

Given the low level of confidence that patients report in their HCPs' abilities to interpret genetic test results, the "findings suggest that the marketing of DTC genetic tests creates consumer expectations that cannot — and perhaps ought not — be met by the health care system," the editorialists conclude. Although cautioning that physicians should not waste time countering marketing claims, "The health system may be the best source of authoritative advice to counter the deceptive appeal of genetic risk prediction."

One coauthor reports grants from GlaxoSmithKline, Prediction Adverse Drug Reactions Project, and European—Pharmacogenomics of Anticoagulant Therapy outside the submitted work. Another coauthor reports grants from the National Institutes of Health and nonfinancial support from 23andMe and Pathway Genomics during the conduct of the study. Another coauthor reports grants from the National Institutes of Health during the conduct of the study; personal fees from Illumina, Invitae, Prudential, and Bina outside the submitted work; and grants from the Brin Wojcicki Foundation outside the submitted work. The other authors and the editorialists have disclosed no relevant financial relationships.

Ann Intern Med. Published online March 1, 2016.

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