Direct-to-consumer genetic or over the counter testing emerged in the early 2000s as a means of allowing consumers to access information about their genetics without the involvement of a physician. While early models were popular with consumers, they were controversial in medical and regulatory circles.
In the January 2018 issue of Mayo Clinic Proceedings authors Megan Allyse Ph.D., David Robinson, Matthew Ferber Ph.D. and Richard Sharp Ph.D. trace the history of direct-to-consumer genetic testing, discuss its regulatory implications, and describe the emergence of a new hybrid model.
Direct-to-consumer testing — the early days
In 2007 the journal Science named human genetic variation the “breakthrough of the year” and direct-to-consumer companies were offering microarray panels for $1,000. Fast forward five years and the curious consumer could get a microarray panel for $99. Microarray refers to a microchip-based testing platform that allows high-volume, automated analysis of many pieces of DNA at once.
“Consumers liked the convenience of direct-to-consumer testing, the appeal of gaining access to their personal genetic information, and its promotion of preventive and individualized medicine,” says Dr. Allyse, a Mayo Clinic bioethicist, and lead-author of the paper.
However, critics quickly raised concerns about direct-to-consumer testing.
- Risk of misinterpreting genetic test results
- Making health decisions on inaccurate or incomplete information
- Lack of consideration for ethnic and racial differences across human populations
- Potential for unnecessary, expensive, or time-consuming downstream medical testing
- No clear regulatory mechanisms in place to assess the analytical and clinical validity, and clinical utility
- Poor procedures in place to ensure informed consent for the testing process
- Consumers may not understand the health implications of the information they received
- Companies could sell aggregate data to third parties or use consumer’s data for research without their awareness
By 2011 the government began cracking down on the practices of direct-to-consumer testing companies. In 2013, the U.S. Food and Drug Administration (FDA) ordered 23andMe to immediately discontinue marketing and sales of its health-related testing services until they received FDA authorization for these devices.
A new model emerges — direct-to-consumer 2.0