Decoding FDA DTC Policy — Part 4: The Physician/Genetic Counselor Perspective

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

This is the fourth 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, and Part 3 here.

The National Society of Genetic Counselorsposition statement on DTC testing from 2015 states that consumers have the right to make an informed decision on DTC genetic testing. As with other DTC tests based on SNP array technology, it is important that companies offering these tests are very clear when discussing their limitations. For instance, the 23andMe Personal Genome Service Pharmacogenetic Reports (PGSPR) panel is limited to those SNPs that are detectable by their array and is by no means an exhaustive list of all possible PGSPR variants within the genes investigated on this panel. It should also be noted that there are many PGSPR genes that are not being evaluated on this panel.

That said, the information consumers learn from this test could prove meaningful to their future health. For this reason, genetic counselors urge anyone who is considering this test to talk with their doctor or a genetic counselor either before or after purchasing a kit. Since PGx is still an emerging area of clinical genetics, many clinicians may not yet be comfortable discussing these results. Thus, it is ideal to start the discussion before testing, and a genetic counselor is specially trained for such discussions. Independent networks of fully licensed genetic counselors and physicians who are experts in genetics, such as Genome Medical, are now available in all 50 states.

There are groups outside of the FDA who are working hard to inform the public about genetic links to health risks as well as pharmacogenetics. The Clinical Pharmacogenetics Implementation Consortium (CPIC) publishes a list of guidelines.

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.

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