Decoding FDA DTC Policy — Part 5: Final Thoughts

by Scott D. Crawford, MA; Shawn Fayer, MSc, MS; and Robert C. Green, MD, MPH

This is the fifth in a five-part series that considers recent FDA actions on issues related to direct-to-consumer (DTC) genetic testing. The original posts appeared on the SoundRocket LaunchPad blog. Read Part 1 of the series here, Part 2 here, Part 3 here, and Part 4 here.

Commentary: Final Thoughts

Over the course of this week, we have covered a variety of related topics that arose from the recent FDA activity around direct-to-consumer (DTC) genetic testing. Because this is so new, much is yet unknown, so the best we can do today is speculate. However, we thought we would wrap up today with a few parting ideas to consider.

  1. If you are in the DTC genetic test business, get familiar with these rulings. The big news for you this week is that there is now a pathway to pharmacogenetic reports. While this presents an obvious pathway for others, do pay attention to the small differences that seem to be emerging. They may well be significant.
  2. The FDA has come to maturity with a regulatory journey that started in 2010. With the Personal Genome Service Pharmacogenetic Reports (PGSPR) authorization, the FDA has now completed what it started in 2010 when it issued its Warning Letter to 23andMe after they went to market with hundreds of tests. Eighteen years later, the FDA now has regulations in place to provide test manufacturers with a pathway to go to market with these tests.
  3. Consider using the FDAs guidance as a set of best practices in the development of genetic testing reports. Whatever your role is in genetic testing, there now exists a framework that can be considered as a “best practice” for reducing risk to consumer/patients with these tests. Even if you do not currently fall under the FDA with what you are doing — it may not be a bad idea to use this framework to help guide what you do. Even physician ordered (non-DTC) test manufacturers may find it useful to conduct user comprehension studies — to ensure that once the report is in the hands of the patient and away from the medical professionals — the consumer is not mistaken when they pick the report up weeks or months later.
  4. If you are involved in providing software designed to interpret genetic data, start paying attention to this FDA space. This is a new and growing field — and the FDA has not raised it in previous DTC related rulings. But now that they have, expect it to be an area of focus. If you do provide such a platform, you may want to consider significant legal warnings about the platform being an entertainment or education only environment — or consider proceeding through the DTC protocols to obtain FDA authorization.
  5. If you are in the healthcare profession, these letters may cause an inconvenience and potentially some confusion for you. Patients will now be receiving more personal genetic tests than ever before, and the pharmacogenetic test will have warnings that indicate that the test cannot be used for any medical purpose. Get familiar with them and consider how you will respond when they show up.

By the way, for those who are really interested in this topic — which probably means you, if you got to this final paragraph of this series — the FDA has a growing and well-stocked page that details all of their DTC actions and positions (see it here).

Scott D. Crawford, MA is an entrepreneur and founder of SoundRocket (on twitter @SoundRocket), a social science survey research firm located in Ann Arbor, Michigan. He is trained as a Survey Methodologist (University of Michigan, 2000) and has been involved in user comprehension research (among other fields) for government, academic and commercial customers since 2000. In recent years, he has been involved in several user comprehension studies implemented to support DTC genetic test submissions to the FDA.

Shawn Fayer, MSc, MS, CGC is a certified genetic counselor with many years of human genetics research experience. He received his genetic counseling training at Brandeis University and worked in the Adult Genetics Clinic at Brigham and Women’s Hospital in Boston, Massachusetts for two years. Mr. Fayer also worked as the project manager for the BabySeq Project, an NIH-funded randomized trial of whole exome sequencing in the newborn population. Mr. Fayer is currently a PhD Candidate at University of Washington.

Robert C. Green, MD, MPH is a medical geneticist and Professor of Medicine at Harvard Medical School, and directs the Genomes2People Research Program in translational genomics and health outcomes at Brigham and Women’s Hospital and Broad Institute. He conducts empirical research on the medical, behavioral and economic outcomes around the implementation of genomic medicine. Dr. Green is directing some of the first trials to explore sequencing in adults (the MedSeq Project) newborn infants (the BabySeq Project) and active duty military personnel (the MilSeq Project). Follow him on twitter @RobertCGreen.

The contents of this post are not intended as, nor should be considered legal, regulatory, health, or any other form of advice for any specific situations — they simply represent the opinions of these authors.

The G2P Research Program ( is focused on the judicious integration of genomic research into personalized medicine & clinical practice.