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

by | Nov 15, 2018 | FDA User Experience Study, Genetic Testing

Finding this post on or after Friday, November 16, 2018? This exploration of the affect on genetic counselors is part of a 5-part series on FDA DTC policy, 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.



Scott D. Crawford, M.A., Shawn Fayer, M.Sc., M.S., C.G.C., Robert C. Green, MD, MPH

Note:  See Part 1 for further details about these authors.

The National Society of Genetic Counselors’ position 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 like 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.

Return tomorrow for the final part in this series – “Decoding FDA DTC Policy: Part 5 – Final Thoughts

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.

Currently, the FDA only regulates true direct-to-consumer (DTC) genetic tests, which have no health care provider involved either before or after testing. Consumer-initiated, physician-mediated genetic tests are considered lab developed tests (LDTs), which currently do not require FDA oversight. 


Our Study Design

Our study was designed to simulate the experience of an everyday person who is considering doing a health-related genetic test. For this reason, we only reviewed website contents presented to a consumer before ordering a test. By limiting our data collection to pre-test content, instead of digging around or contacting the companies to fill in missing data points, gaps in public-facing information that consumers use to make ‘informed’ decisions were revealed.  

Also, while a genetic counselor supervised the project, a research assistant (RA) conducted most of the website investigations. The RA was familiar enough with genetics and genetic testing to understand and identify the information presented on the websites, but has not had the clinical exposure that might create bias from knowing how specific tests work “behind-the-scenes”. 


To Sum Up

We set out to understand the landscape of health-related consumer genomics testing from the public perspective. By limiting our research (by design) to public-facing pre-test website content, we could not complete our data collection as set out in the protocol. However, this uncovered an important observation: consumer genomics websites are highly variable in content, readability and ease of use. 

This begs the question, if we can’t find basic test information on a consumer genomics website, how does a consumer have enough information to make an informed choice about testing? 

Stay tuned for Part 2 in this series, where we will dig into our study findings and reveal our most interesting observations.  



As experts in FDA user comprehension studies for consumer genomics companies seeking 510(k) clearance, we are interested in how everyday people access and understand health content that is meant for them. If you need help optimizing your consumer-directed health communications, we’ve got the in-house expertise and experience to meet your needs. Let’s chat

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.