Is At-Home Genetic Testing in the Best Interests of the Individual?

by G. Richard Holt, MD, MSE, MPH, MABE, D Bioethics •

In the past decade, direct-to-consumer genetic testing (DTC-GT) has resulted in regulatory, scientific, and ethical scrutiny owing to the fact that it bypasses the traditional medical care model of shared decision-making between patient and physician. Not dissimilar to independent laboratory testing for a range of sexually transmitted diseases, for which the information is given to an individual by phone call or on a data sheet without physician counseling regarding interpretation, DTC-GT provides only genetic “risk” information, with no correlation of this “risk” within the total context of the patient’s health status. There is no inherent interpretation of the implications of this information for the individual, especially considering the wide variation in the clinical penetration of certain disorders, as well as the myriad facilitating and suppressive influences of the individual’s health and life on genetically associated disorders.

The testing process is simple: The individual contracts with a company, pays a fee, and then receives a kit that includes a receptacle to fill with the individual’s saliva. Some time after the kit is returned by mail to the company, the individual is given access to the selected information via a secure site with password protection. The processes involved have come under scrutiny in the past by both the scientific community and the federal government. In April 2017, after an extensive regulatory oversight process, the U.S. FDA allowed marketing by 23andMe for its personal genome service, which tests for 10 health conditions of significance. These 10 disorders include Parkinson’s disease and late-onset Alzheimer’s disease.

The National Institutes of Health has published a very helpful primer and home reference for patients and physicians on DTC-GT that is recommended reading for all physicians, including otolaryngologist-head and neck surgeons (“Genetics Home Reference.” Published July 20, 2017.).

This extensive informed consent process—a necessary component of autonomy, which is a cornerstone of medical ethics—is incomplete in direct-to-consumer genetic testing.

Privacy and Protection

A major concern for both physicians and medical ethicists with regard to DTC-GT is the lack of a fully informed consent process. As surgeons, we routinely use this process, both for the protection of the patient and our own professional protection, but also as an ethical responsibility to provide the patient with as much information as possible to make the best decision for their personal health. The patient is encouraged to ask questions to better understand the risks and benefits, and the surgeon

fully answers the questions. This extensive informed consent process—a necessary component of autonomy, which is a cornerstone of medical ethics—is quite incomplete in the mass marketing process of DTC-GT. Patients who order these tests without consultation or advice from a physician may misinterpret the results, or at least may not understand their meaning within the broader context of their own health environment, and thus may make ill-advised decisions.