Research Wonder: DNA with a bow on it, a gift that may (unexpectedly) ‘keep on giving’

by | Dec 17, 2020

If you’re looking for a last minute gift for friends or family this holiday season, you may be considering direct-to-consumer (DTC) genetic testing kits. These saliva-based at-home DNA tests (offered by companies like 23andMe and Ancestry.com) are available for quick and easy purchase online, usually at a seasonal sale price.

Gift recipients can send their DNA for analysis and receive results without the involvement of a healthcare provider; this is what makes them ‘DTC’. These tests offer a range of genetic insights about one’s ancestry to alerts about genetic health risks to wellness tips.

Over the past couple of holiday seasons, thousands of Americans have been gifting at-home genetic testing kits to their loved ones. While most recipients receive harmless and expected results, for some the consequences have been unforeseen. What was conceived as a fun novel holiday gift idea, can, and has, led to life-changing revelations.

DTC genetic tests vary, both in evidence to support their claims and in what they test for. Wellness and ancestry type testing is considered recreational. Tests that reveal how specific genetic variants contribute to a person’s risk for a disease (i.e.: genetic health risk (GHR) tests) can give risk information on medical conditions such as breast cancer, Alzheimer’s disease, or one’s likelihood of developing blood clots.

GHR results can be tricky to interpret. Having specific genetic variants does not mean you will develop the disease, it simply means you have an increased chance. And, not having a genetic variant doesn’t preclude you from ever getting a disease—many conditions are highly influenced by environmental and lifestyle factors. Also, most DTC tests only look for a select number of genetic variants, so there could be a different variant that wasn’t tested for that may have a role.

The FDA oversees DTC GHR products. An important part of the FDA authorization process is user comprehension. They require test manufacturers to conduct user comprehension studies—demonstrating that the average consumer understands the important issues at a level equivalent to an A- grade in school (they must score a 90% or greater on user comprehension tests.)  These tests measure a variety of topics including an understanding of test limitations and the meaning of results.

At SoundRocket, where we are fascinated by the study of human behavior, we’ve been thinking about the gifting of DTC tests.

We know that it is difficult to generate a DTC test that passes user comprehension even for motivated consumers who purchase the kit for their own use.

WE WONDER…

Do gift givers understand the test purpose and consider the possibility of unexpected results before they put a bow on it?

AND WE WONDER…

Do gift recipients know what they are getting into – what they could potentially learn, issues related to privacy and family relationships – when they send their saliva sample off for testing?

A 2017 study conducted at SoundRocket in collaboration with researchers at the University of Michigan, McMaster University, Penn State, and Harvard University as part of the PGen Study found that 38% of people don’t consider that they might receive unwanted information before they do this type of testing. Is this number even higher for those that didn’t seek out the testing themselves?

AND WE ALSO WONDER…

Do gift recipients actually proceed with the testing? How often do these gifted DTC genetic test kits just collect dust, like that re-gifted tin of hard candies from your great Aunt Nancy?  And when they are not used, why?

 

What’s a Research Wonder?  Read this to find out…

 

 

 

Jill Furnival is a certified genetic counselor and science writer based in Toronto, Canada. When she’s not helping people better understand genetics, you may find her walking her dog, or in downward dog! She joined SoundRocket in Fall 2020 to consult on user comprehension studies for the FDA authorization of direct-to-consumer genetic tests.