Decoding FDA DTC Policy: Part 1 – Pharmacogenetics Are Here!

by | Nov 12, 2018 | FDA User Experience Study, Genetic Testing

Finding this post on or after Friday, November 16, 2018? This discussion of FDA authorization and the Personal Genome Service Pharmacogenetic Reports is part of a 5-part series, which you can now find in its entirety as one post here. Feel free to read on, however, if you prefer to read it in daily chunks.

Welcome to a five part blog series where we digest some recent FDA movement in the direct-to-consumer (DTC) genetic testing space.  This is a space that we work directly with several of our collaborators, so we felt it was an important area to highlight.

We will post one entry daily each day this week, covering various angles of the recent FDA activity. If you enjoy this post, please return tomorrow for more!

If you are interested in re-posting these articles in your own blog, please do so – we simply ask that you include prominent links back to this original source.


Scott D. Crawford, M.A. – Mr. Crawford 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, M.Sc., M.S., C.G.C. – Mr. Fayer 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 – Dr. Green 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.

While many of us were heading out to dish out candy (or tricks) to local goblins and superheroes this past Halloween, the FDA rounded out their suite of De Novo reclassification orders on DTC genetic testing.  The latest announcement adds Personal Genome Service Pharmacogenetic Reports (PGSPR) to the existing regulations for Carrier Screening and Genetic Health Risk (GHR) tests (including a specific case of Genetic Health Risk Report for BRCA1/BRCA2).

The full FDA classification order for these new pharmacogenetic tests can be found here. As has been the case for the past few years now – the company leading the way with these authorizations is 23andMe.

FDA regulations are about as fun to read as the foreign language instructions to your new Cuisinart mixer.  So we have collected some of the best minds in the field to digest and summarize the key takeaways for those who do work in this area, and we have summarized what is going on in the field.

While the expansion of 23andMe’s test panel was perhaps not surprising— the FDA added some intrigue to the story on the following day – November 1, 2018 – when they released two additional communications about pharmacogenetics testing.  We’ll return to those shortly, but first, let’s summarize the new authorization…

The Pharmacogenetic Report Authorization

So what exactly did the FDA just authorize?  The short story is this: 33 direct-to-consumer tests for variants located on 8 genes that are all linked to how some medicines work in your body.

The nitty gritty details are below — links will bring you to relevant entries in the NIH Genetics Home Reference where you can find even more detail.

Approved Genes/Variants:

  • CYP2C19 *2, *3, *17

  • CYP2C9 *2, *3, *5, *6, rs7089580

  • CYP3A5 *3

  • UGT1A1 *6, *28

  • DPYD *2A, rs67376798

  • TPMT *2, *3C

  • SLCO1B1 (see “other disorders”) *5

  • CYP2D6 *2, *3, *4, *5 , *6, *7, *8, *9, *10, *11, *15, *17, *20, *29, *35, *40, *41

If this level of detail is too much – all you need to know is that most of these variant/gene references have something to do with how your body metabolizes certain drugs. This may mean (for someone with one of the variants) that certain drugs may not work as they do in others, resulting in your doctor potentially wanting to start you on a higher or lower dose, or change your existing medication or dosage.

In comparison with previous GHR DTC reports, these tests do contain a more extensive set of limitations. Consumers are warned that the reports do not describe whether or not a person will or will not respond to the specific drug, and they strongly warn that these reports are not a substitute for seeing your doctor, and that they should not be used to start, stop or change any course of treatment on their own.  The FDA is limiting the report to “inform discussions with a healthcare provider”, and not what action should be taken as a result of the test.

Return tomorrow for part 2 in this series – “Decoding FDA DTC Policy: Part 2 – What are user comprehension studies? And are pharmacogenetic test report requirements different than previous FDA regulations?

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.

About the Author

Scott D. Crawford

Scott D. Crawford is the Founder and Chief Vision Officer at SoundRocket. He is also often found practicing being a husband, father, entrepreneur, forever-learner, survey methodologist, science writer & advocate, and podcast lover. While he doesn’t believe in reincarnation, he’s certain he was a Great Dane (of the canine type) in a previous life.