The rejection of medical paternalism in favor of respect for patient autonomy transformed the patient-physician relationship. Historically, medicine and society subscribed to the ethical norm that the physician's main duty was to promote the patient's welfare, even at the expense of the latter's autonomy. A central assumption of the paternalistic framework was that physicians, because of their medical expertise, knew best what was in the best interest of patients. Accordingly, physicians decided which interventions would promote patients' welfare; patients, for their part, were expected to comply.
Once limited to the clinical and research settings, direct-to-consumer (DTC) hereditary genetic tests are now available on the open market. Given the medical significance of these tests, there is a pressing need to address the unique ethical questions that arise when cancer susceptibility testing moves from the clinic to the DTC market. In this Viewpoint, we outline the current state of DTC genetic testing for hereditary cancer susceptibility, discuss ethical questions related to informed consent and the disclosure of consumers' test results, outline research needs, and recommend steps that DTC companies can take to promote informed consent and demonstrate the safe return of results.
PURPOSE Recent years have seen direct-to-consumer (DTC) genetic testing for cancer susceptibility change dramatically. For one, a new model now dominates the market where tests are advertised to consumers but ordered by physicians. For another, many of today’s tests are distinguished from earlier DTC offerings for cancer susceptibility by their scope and potential clinical significance. This review provides a comprehensive overview of available DTC genetic tests for cancer susceptibility and identifies aspects of the DTC testing process that could affect consumers’ ability to make informed decisions about testing and understand their results. METHODS First, we provide an overview of each DTC genetic test for cancer susceptibility that includes information about cost; who orders it; whether variants of uncertain significance are returned; availability of genetic counseling; intended users; management of variant reclassifications; whether it is characterized as diagnostic, actionable, and clinically valid; molecular technique used; and Clinical Laboratory Improvement Amendments/College of American Pathologists status. Second, we identify six aspects of the testing process that could affect consumers’ ability to make informed decisions about testing and interpret their results: How companies use certain terms (eg, medical grade or clinical grade); how companies use consumers’ health information during the ordering process; the extent of genetic counseling provided by companies; companies’ procedures for returning results; the role of company-provided ordering physicians; and companies’ procedures for communicating variant reclassifications. RESULTS On the basis of our review of companies’ Web sites, we believe that consumers would benefit from more information about these aspects of testing. CONCLUSION Providing this information would help consumers make informed decisions about whether to use a particular DTC genetic testing service and, should they choose to pursue testing, understand the implications and limitations of their results.
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