by Scott D. Crawford, MA; Shawn Fayer, MSc, MS; and Robert C. Green, MD, MPH
This is the first 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.
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 eight 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.
- 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.
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.