Eliminating the Physician-Order Requirement in Consumer Genetic Testing

Abstract: Genetic testing for serious health risks, such as cancer and cardiovascular disease, has evolved from a specialized clinical service to one widely accessible through consumer genetic testing. Over the past decade, a new model of consumer genetic testing—physician-mediated genetic testing (PM-GT)—has emerged. Like traditional direct-to-consumer (DTC) genetic testing, in PM-GT, consumers typically initiate the testing process online. The main difference is that, unlike in DTC genetic testing, PM-GT requires a physician's order, typically from a provider affiliated with the testing company. While physician involvement is often cited as the key distinction between the two models, in practice, it is minimal and largely perfunctory. The physician-order requirement raises ethical concerns about potentially misleading consumers regarding the extent of oversight and placing physicians in a precarious position where they may be unable to fulfill their fiduciary duties to patients. I consider two potential approaches to addressing these ethical concerns: strengthen physician involvement in PM-GT or eliminate the physician-order requirement entirely. I argue that the former should be rejected as it risks restricting access to potentially life-saving genetic information for individuals who do not meet clinical testing guidelines. Instead, I argue for eliminating the physician order requirement. This approach preserves consumer access to valuable health information by allowing individuals to independently order genetic tests, while avoiding concerns about consumer misunderstanding and ethical conflicts for physicians. Crucially, this change must be accompanied by significant improvements to informed consent procedures and test-taker education and counseling to ensure adequate support throughout the testing process.

Keywords: Consumer genetic testing