In an era of commercialized medicine, direct-to-consumer (DTC) genetic testing has been on a steady rise. Consumers can purchase a DNA sample kit, also known as a “spit kit,” mail it to a testing company, and wait for an email that reveals their genetic risk for disorders like heart disease and colon cancer. However, a new Yale study reveals that members of the public, as well as physician groups, are concerned about individuals interpreting these risks without the help of a doctor.

“Medical journals have published many editorials expressing concerns about companies that offer genetic tests directly to consumers,” said Yale sociologist Rene Almeling, one of the study’s authors. “What we did that was new was to ask members of the public whether they thought this was a good idea.”

The results of the study confirm that 65% of Americans agree that clinicians should be involved in explaining DTC genetic test results. The study, co-authored by Almeling and Shana Kushner Gadarian from the Maxwell School of Citizenship and Public Affairs at Syracuse University, was published Nov. 7 on the website of Genetics in Medicine, the official publication of the American College of Medical Genetics and Genomics.

“Genetic risk percentages require interpretation and context,” said Almeling. Both the American Medical Association and the American College of Medical Genetics and Genomics encourage people to undergo genetic testing under the guidance of a qualified health care professional.

This allows patients to discuss the risks and benefits of genetic testing, and test results can be interpreted in the context of the individual’s other health factors, such as family history and environment.

According to Almeling, this appears to be the first time that researchers have asked the public directly about the issue of clinician involvement in genetic testing. She added that the high level of public support might influence state and federal regulators to require that clinicians be involved in explaining genetic test results.

The study, which was administered by the non-partisan research firm YouGov, surveyed 2,100 respondents about federal spending on genetic research, the Genetic Information Nondiscrimination Act passed in 2008, and DTC genetic testing. The results also revealed that the majority of Americans believe genetic antidiscrimination laws are important and support increased federal spending on genetic research.

“In the ongoing debates over policy issues in genetics, it’s important to keep in mind the views of those most affected by such debates,” said Almeling. “These results are useful for scientists designing studies, clinicians working with patients, federal agencies setting budget priorities, and legislators designing regulations.”

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Support for the research was provided in part by a grant from The Robert Wood Johnson Foundation Scholars in Health Policy Research Program at the University of California at Berkeley and San Francisco.

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Amy Athey McDonald
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Yale University