Connect

Member Research and Reports

Member Research and Reports

BU: At-Home Genetic Testing Leads to Misinterpretations of Results

Home genetic tests like AncestryDNA and 23andMe are more popular than ever, with sales topping $99 million in 2017. But a new study led by a Boston University School of Public Health (BUSPH) researcher highlights the potential negative implications of widespread access to personal genetic interpretation tools.

The study, published in Translational Behavioral Medicine, is the first to examine the challenges that may arise when consumers contact healthcare providers about their raw DNA interpretation results.

“People often enter the direct-to-consumer (DTC) market for recreational purposes, such as learning about their ancestry,” says lead author Dr. Catharine Wang, associate professor of community health sciences at BUSPH. “Yet what we started seeing was that these same individuals subsequently come across third-party interpretation services where they proceeded to learn more about their ‘raw’ DNA made available by ancestry testing companies.

With the introduction of ancestry genetic testing in 2000 and health risk testing in 2007, the public gained the option of bypassing traditional genetic service providers and accessing genetic information directly from commercial companies. A number of experts have since raised concerns about the marketing and clinical validity of DTC testing services, especially as third-party genetic interpretation services are not regulated by the U.S. Food and Drug Administration.

Participants reported a number of challenges when dealing with these patients, including their overemphasis on the validity of the DTC testing results and their resistance to the information subsequently provided by the counselors. Counselors described patients as overconfident in both their existing knowledge and their understandings of what the results meant, which led to challenges when the counselors countered patients’ expectations.

“Our results suggest that misunderstanding of genetic information conveyed on various DTC reports is relatively common and has potentially adverse implications both on the receptivity to the information conveyed by genetic counselors and the emotional responses by patients,” the authors wrote.

Read more