SoundRocket Collaboration Leads to Key Publication on Predispositional Genome Sequencing in Healthy Adults

by | Feb 27, 2019 | News

An article just released today in Genome Medical, and available here to download in its entirety, reports on a groundbreaking study of over 650 individuals who have received whole genome sequencing as a predisposition screening tool.

The authors, who are all involved in the PeopleSeq Consortium, represent a collaboration between researchers at SoundRocketBrigham and Women’s HospitalBoston University School of MedicineMiddlebury CollegeIcahn School of Medicine at Mount SinaiIllumina, Inc.; Geisinger National Precision HealthOpen Humans FoundationHarvard Medical SchoolUniversity of VermontBaylor College of MedicineUniversity College LondonMcGill UniversityThe Broad Institute; and Partners Healthcare Personalized Medicine

Tracking those who have received whole genome sequencing with pre-sequencing baseline surveys, followed by 3-month follow-ups has provided a window for how early adopters are using such tests.  The study examines their motivations (98% were curious about their genetic makeup), their concerns (57% had concerns about how predictive the test would actually be, and almost 48% were concerned about the privacy of the information), and how the results have had an impact on their behavior.  Approximately 8 months after receiving their results, only a little over 13% acted on the information provided with a healthcare provider, and less than 10% changed diet, exercise, or insurance coverage. And very few (under 3%) regretted the decision to have the test done.

SoundRocket assisted in the design and implementation of this study, and Scott Crawford of SoundRocket assisted in reviewing drafts of the article.  

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.