Widespread access to personal genetic interpretation tools has potentially negative implications on users’ understanding of their health, according to a new study by Boston University School of Public Health.

The study is the first to examine the challenges that can arise when consumers contact healthcare providers because they have concerns about their DNA interpretation results.

Boston University associate professor of community health sciences and lead author of the study Catharine Wang said: “People often enter the direct-to-consumer (DTC) market for recreational purposes, such as learning about their ancestry. 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.

“We were especially interested in the downstream implications of receiving unexpected disease risk information from these newer services that led consumers to seek out a genetic counsellor’s consult.”

The introduction of at-home ancestry genetic testing in 2000 and health risk testing in 2007 has given the public the option of bypassing traditional genetic service providers and accessing genetic information directly through 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 US Food and Drug Administration.

Of the 85 genetic counsellors Wang and her team of researchers surveyed, 53% said that they had been contacted by patients who had used third-party raw DNA interpretation services.

The surveyed medical professionals also 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 counsellors. Counsellors described patients as overconfident in both their existing knowledge and their understandings of what the results meant. This led to challenges when the counsellors countered patients’ expectations.

Wang and her research team believe their results indicate that misunderstanding the genetic information conveyed on various DTC reports is relatively common and has potentially adverse implications for genetic counsellors and patients. They claim to have highlighted common concerns about lack of oversight of the expanding public access to raw DNA data and are calling for more oversight over third-party DTC services.

Wang said: “Given the extent to which personal genomic testing is now being aggressively marketed, with some companies even offering genome sequencing and corresponding interpretation app du jour, we expect this area and its corresponding burden on the health system to grow significantly.”