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DTC genetic tests create conundrum for physicians and unrealistic expectations for patients

Direct-to-consumer (DTC) genetic testing may create unrealistic expectations for patients and a conundrum for physicians who largely feel unprepared to discuss test results. The study results are published in Annals of Internal Medicine

Several companies offer DTC genetic testing, which allows patients to acquire a range of personalized health information about everything from ancestry to disease predisposition. Use of at-home genetic testing is controversial because complex information is given directly to consumers who may feel confused or anxious about their results. There is also concern about downstream effect to the health care system when patients seek out unnecessary health services.

Using data from the PGen (Impact of Personal Genomics) Study, a large, longitudinal study of actual users of 23andMe and Pathway Genomics DTC genetic tests, researchers described the characteristics and perceptions of consumers who shared their results with their doctor or other health care provider. They found that a minority of consumers took their genetic test results to a health care provider, but most of those who did were satisfied with the discussion of results. For the minority who were unsatisfied with the physician encounter, the physician’s inability to adequately answer the patients’ questions and concerns could be to blame. The authors suggest that patient perceptions and expectations may influence their attitudes. They say that given the increasing importance of genetic concerns in primary care, physicians should be trained to at least engage in a discussion about these tests.

The authors of an accompanying editorial suggest that deceptive marketing messages create unrealistic expectations about the health benefits of at-home genetic tests. They call upon the health system to counter unrealistic marketing messages with real advice for consumers.