Reframing Physician Oversight in the Era of Consumer-Directed Genetic Testing

Abstract

Purpose: For the past decade, much has been written about questions surrounding and implications stemming from direct-to-consumer (DTC) genetic testing, which allows individuals to access their own genetic information without physician involvement. More recently companies have begun promoting more advanced genetic testing services based on targeted and whole genome sequencing to potential customers. These tests are more clinically validated and may return higher-yield genetic risk information to users. Interestingly, although these services are marketed to the lay public, many tests require a licensed physician to place the actual order. In this commentary, we would like to define the distinguishing characteristics of a new category of consumer-directed physician-mediated (CDPM) genetic testing; review and compare existing CDPM genetic testing services and how they involve physicians; and ultimately frame the evolving duty of physicians as they navigate this new genetic testing space. Methods: A review of existing literature on DTC genetic testing as well as consumer-facing genetic testing more broadly was performed focusing on more recent publications discussing new models of genetic testing that incorporate some level of physician involvement. A market survey of existing CDPM genetic testing companies and services as well as third-party physician networks was conducted using company websites, which provided primary evidence. Companies were identified using public Internet search engines and an updated published list of personal genetic and genomic testing services. Results: Numerous companies exist in the DTC genetic testing space. We identified 12 United States-based CDPM genetic testing companies. They differ in services offered, what type of physician is required to signoff, how results are returned, and whether post-test counseling is provided. Many companies partner with independent physician networks to facilitate test ordering and circumvent regulatory oversight by the Food and Drug Administration (FDA). Conclusions: Mandatory physician involvement in CDPM genetic testing is at least partially motivated by company aims to avoid regulatory scrutiny. Partnering physician networks should take some level of responsibility for patient care, and individual practicing clinicians should more proactively educate themselves and their patients about the benefits and risks of genetic testing.