DTC Genetic Testing: Primary Care Patients' Views

Ricki Lewis, PhD

July 19, 2013

Few studies have assessed how well healthcare consumers understand the results of direct-to-consumer (DTC) genetic testing. A study published online in July in the Journal of Community Genetics evaluates the responses and reactions of 20 primary care patients who underwent testing through the company 23andMe.

Katherine Wasson, PhD, MPH, from the Neiswanger Institute for Bioethics, Health Sciences Division, Loyola University Chicago, Illinois, and colleagues conducted the longitudinal, qualitative study. They chose primary care patients because they are more representative of the average patient than the people who were among the very first to seek out DTC genetic testing kits when they became available in 2008.

The study is a follow-up to one that worked with 4 focus groups recruited from a primary care waiting room at an urban academic medical center. Almost half of the participants in the focus groups declined to undergo DTC genetic testing.

Sixteen of the focus group participants agreed to undergo genetic testing, which included a range of genetic tests from carrier status to cancer susceptibility genes to trivial traits. The researchers recruited an additional 4 participants from the same primary care clinic who also agreed to undergo testing.

The researchers interviewed each participant individually 4 times: initially when providing a saliva sample; 4 to 6 weeks later, on receiving results; and then both 3 and 12 months after getting the results. A genetic counselor interpreted the results in session 2.

Participants were aged 29 to 63 years. Sixty percent were women, 50% were white, 50% were black, 30% were high school graduates, 40% had some college education, 25% were college graduates, and 5% were postgraduates.

The interviews probed concerns over testing, reasons for testing, expectations, comprehension of results, and the effect of testing and learning results.

Seventeen of the participants completed the sessions. Although most participants expressed no concern or hesitation about testing, a few worried about confidentiality and the effect on health insurance coverage, as well as about receiving worrisome findings.

The participants reported a mix of reasons for opting to undergo testing: altruistic reasons (for family, the next generation, or medical research), curiosity, and pursuit of actionable medical information.

With the assistance of the genetic counselor, most participants found the findings easy to understand. However, less than half said they might have been able to understand the results without professional assistance. Only a single participant claimed to be able to understand the results without the genetic counselor's assistance.

Some participants expressed relief and pleasure on receipt of results, but most reported no significant effect. A few participants improved their health habits afterward. At the 1-year follow-up, half the participants remembered the testing only generally, and the other half recalled at least 1 health condition or disease risk.

Some comments reflected genetic determinism, such as "I know I'll be around at least another year or two."

Overall, the results favored testing, and most participants would recommend it.

Limitations of the study include the small, self-selected, urban sample. The research setting and availability of a genetic counselor also set up a situation that might not reflect that of other DTC genetic testing consumers.

The authors have disclosed no relevant financial relationships.

J Community Genet. July 2013. Abstract

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