Authors: Paldeep S. Atwal, MD; Caitlin Cooney, MS, LCGC; Jacquelyn Magner, MS, LCGC; Molly Fitzpatrick, BS; Robin King, MS, LCGC.
Introduction: Consumer-initiated testing (CIT) is a recent innovation that provides a new setting for individuals to undergo genetic testing. Heretofore the most common way to undergo genetic testing was in a traditional medical office setting. An alternate way to undergo genetic testing for health conditions is direct-to-consumer (DTC), which by design has no medical oversight, but does require FDA approval of the test. Contrasting with DTC testing, CIT provides medical oversight from a physician and genetic counselor, thus ensuring the principles of safety, efficacy, and informed consent. In addition, this medical oversight ensures 1) there is an appropriate medical context, 2) there is two-way clinician-patient communication at all times and 3) appropriate follow-up of results, particularly in high-risk cases.
Methods: Through a telegenetic approach and within a nationwide framework of physicians and genetic counselors, we have developed robust protocols that include thorough pre- and post- test review including medical context and appropriateness of the test. To date, we support a wide array of genetic tests including carrier screening, hereditary cancer, cardio-genetic, pharmacogenomics, pediatric rare disease, ‘medically-actionable’ gene panels, and supplemental newborn screening.
Results: Through testing of tens of thousands of individuals we have data demonstrating 1) clinical efficacy and utility of CIT, 2) appropriate medical oversight is maintained, 3) high patient satisfaction with the process and 4) a scalable way to counteract the lack of genetic professionals present in the United States.
Conclusions: We demonstrate success on a number of key metrics and conclude that CIT offers the benefits of reduced barriers and increased access of DTC coupled with the benefits of a traditional model, including safety, appropriateness, “surround-sound” medical oversight, and genetic counseling. We posit that CIT has a favorable alignment of balancing safety and access to genetic testing in a scalable way to help address the shortage of genetic expertise throughout the United States.