Direct-to-consumer (DTC) genetic testing companies are now a fixture of U.S. consumer culture, with dozens of companies offering adults on-demand insights into their ancestry and health (sometimes loosely defined). While a compelling argument can be made for giving consumers the right to access information about their own genetic material, DTC-testing presents a range of legal and ethical concerns. Scholars and physicians have long been raising questions about the analytic validity, clinical validity, and clinical utility of these services. The FDA has increasingly worked to address these aspects of DTC-testing and has issued letters to multiple DTC genetic testing firms arguing that they are offering medical devices that should be subject to premarket review. Developments in this area continue to emerge and the FDA recently authorized marketing for 23andMe’s Bloom Syndrome carrier test, while also planning to exempt future carrier screening tests from premarket review.
These are clearly positive developments from the perspective of consumer protection, however, other aspects of DTC genetic testing remain largely unaddressed. Most notably, there are significant concerns about how firms handle consumer samples and data and how and if they use them for secondary purposes. To address this issue, Paul Auer, PhD, Jennifer Rich, MPH, and I set out to understand how transparent these firms are about their privacy, confidentiality, and secondary use policies. Recently published in Genetics in Medicine, this work offers an analysis of the terms-of-service and privacy policies of the top 30 DTC genetic testing firms that show up in a U.S. based web search.
While transparency about data practices varied across firms, a number of gaps appeared with regard to conveying information about the risks of data disclosure, the ultimate fate of samples and data, and use of data for research. Over the past decade, several major professional and governmental organizations have issued guidelines for transparency in these areas, including the American College of Medical Genetics and Genomics and the European Society of Human Genetics. At present, it does not appear that non-binding guidelines have been sufficient to encourage widespread compliance with best practices on these topics. Continue reading