When we looked online at genetic tests marketed to consumers, the options were dizzying; after reading the websites we were left with more questions than answers and we wondered—what does this mean for consumers?
– Jill Furnival, Genetic Counselor, SoundRocket
New companies offering to give people DNA-based insights into their ancestry, traits, genetic health risk, and more, seem to be popping up every day. As commercial genetic testing options expand in the area of personalized health, more and more people are showing up at their doctor’s office asking providers to help interpret results. Others are making DNA-related health decisions on their own. We began to wonder, what is the scope of consumer-initiated genetic testing in the US?
How many US companies are currently marketing genetic tests to consumers? What type of tests are being offered?
Turns out, there is no easy way to answer those questions. Currently, there is no resource tracking the array of consumer-initiated genetic testing options available in the US, so our team set out to collate the data for ourselves—it proved more tricky than we thought.
We shared our findings in a poster presentation at the 2021 American Society of Human Genetics (ASHG) Conference.
Our Approach
We created a robust list of US-based consumer-initiated genetic tests, where we drew on the work of Dr. Andelka M. Phillips from 2018, and then narrowed in (for this study) on 98 health-related genetic tests offered by 47 companies in 2021.
For each company on the list, we conducted an in-depth website review and attempted to record the following information:
- type of tests offered (e.g., cancer predisposition tests, pharmacogenetics tests, etc.)
- test delivery mode (e.g., physician-mediated or truly direct-to-consumer)
- type of analysis (e.g., genotyping, sequencing, etc.).
We defined health-related consumer-initiated genetic tests as DNA tests that: 1) use consumer-directed language (e.g., your genes, your DNA, your health) and tone on their website, and 2) give consumers the option to take an action in ordering a health-related genetic test, which could mean asking their doctor to order the test (i.e., physician-mediated by own provider), or purchasing the test themselves, with or without physician oversight (i.e., physician mediated by company or truly direct-to-consumer).
To Our Surprise
In our protocol, we planned to review public-facing websites and record the above data points for each health-based genetic test, but it was more challenging than we expected. Gaps in the quality and contents on some sites made it difficult to identify test modality, type of test, and type of analysis. This became the thesis for our 2021 ASHG poster.
Further, we based the ‘type of test’ categories on the FDA’s types of DTC genetic tests (e.g., Carrier Screening, Genetic Health Risk, Pharmacogenetic Tests, Cancer Predisposition Tests) which are the existing DTC regulatory pathways. We quickly realized there are other consumer-initiated genetic tests and services that fall outside of that list (and that we wanted to annotate separately), so we added others as needed, such as hereditary non-cancer conditions, polygenic risk scores, pediatric tests, and third-party raw data analyses. Categorizing the test types was further complicated when companies offered test panels which spanned different categories.
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!