Direct-to-Consumer Genotyping: Are We Ready for a Brave New World?

Abstract

Although the majority of all clinical testing is performed in a central laboratory environment within the hospital or reference laboratory, there is a growing trend to provide laboratory results in near-patient or point-of-care testing environments. In addition, there is growing evidence of testing being performed outside of a healthcare facility, with sample collection and/or testing being performed by the patient in an at-home setting. For waived, low-complexity testing, this approach may be appropriate; however, direct-to-consumer (DTC)3 marketing has also made highly complex testing available to the consumer via self-collection of a buccal (cheek) swab and routine mailing to specialized laboratories for genetic testing and risk assessment. We asked 5 professionals representing academic clinical laboratories, medical genetics subspecialties, and DTC laboratories to comment on this growing trend. Lew Bender4 : One of the goals of personalized healthcare is to prevent disease through proactive understanding of our health risks, setting goals to become healthier, and ultimately giving consumers the tools they need to make more informed decisions to manage their health. DTC testing enables individuals to hone in on a particular condition they’re interested in, learn more about it from their test kit and online support, and take a simple cheek swab in the privacy of their own home. There are significant advantages to this type of testing, provided DTC genetic tests have analytic and clinical validity, are clinically useful, and at the same time provide actionable, personalized guidance that consumers can then follow to minimize their genetic risks. Lawrence M. Silverman5 : Accessibility of esoteric testing is a mixed blessing. On one hand, the consumer is able to choose which laboratory and what tests are being performed, which is often difficult when third-party payers control the choice of laboratories. However, removing healthcare professionals from the process makes quality …