It is now possible for individuals to learn about their genetic susceptibility to dozens of common and complex disorders, such as coronary artery disease, diabetes, obesity, prostate cancer, and Alzheimer’s disease, without ever seeing a physician. Direct-to-consumer personal genome testing companies, such as 23andMe, Navigenics, and deCODEme hope to empower consumers to take control of their health by providing tailored assessments of genetic risk based on reported associations between genomic variation and susceptibility to disease.
Several states limit or forbid this practice as a violation of state law that requires the appropriate involvement of a licensed physician when providing medical diagnostic information (1). Personal genome testing companies claim that their services are for informational and educational purposes only. They warn consumers that the information should not be used for diagnosis, treatment, or health ascertainment purposes and direct them to their physician if they have questions or concerns about their health status (2–3).
Because of uncertainty about the validity and clinical utility of test results, Hunter and colleagues advise physicians to discourage patients from pursuing personal genome testing and to respond to test results with general statements about their limited predictive value (4). While this response is consistent with current knowledge, a recent survey of online social networking users suggests that at least some potential consumers would expect their physician to help them interpret test results and believe that physicians have a professional obligation to do so (ALM, unpublished data). This expectation has important implications for primary care physicians, even pediatricians, because many direct-to-consumer personal genome testing companies allow testing of children as well as adults.
Primary care physicians already spend much of their time helping patients understand and manage health risks. Assessment of cardiac risk factors, occupational exposures and other health indicators allow physicians to identify health risks and counsel patients accordingly. Physicians are also accustomed to talking with patients about health information disclosed on the internet or through other media outlets. At the same time, primary care physicians have limited time with patients, face many competing demands (5), and are poorly reimbursed for time spent counseling patients about preventive care. Patient concerns about direct-to-consumer test results have the potential to exacerbate these problems and strain already limited health care resources.
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