Commercial Genetic Testing: How Are Docs Handling Patients' Results?

Consumers are attracted to commercial genetic testing because they hope it will help improve their health, but some are disappointed when they discuss the results with their primary doctors, according to a new study, published in the Annals of Internal Medicine.

Many consumers do not discuss the results with physicians.

A survey of 1026 customers of 23andMe and Pathway Genomics testing services found that before the tests 55.6 percent planned to follow-up the results with their primary care physicians.

However, six months afterwards only 27% had done so.

Among those, 35 percent were very satisfied with their physicians’ response to the information while 18 percent were not at all. Lack of willingness to discuss the results or ability to understand the genetics were among the reasons for dissatisfaction with the primary doctors’ responses.

The study attributed the consumers’ low-rate of follow-up with primary doctors or any health care professional in part to reports of a lack of time, concerns about the results becoming part of their medical record, or a belief that the results were not important enough to share.

A mean 20 percent of the disease conditions tested for showed an elevated risk, among the 983 survey respondents from whom genetic reports were available. The mean proportion of atypical drug responses was 20 to 24 percent. Personal genomic tests are direct-to-consumer services that are available without a doctor’s prescription.

An editorial that appears in the same issue of the Annals questioned the usefulness of personal genomic testing and noted that the U.S. Food and Drug Administration at times has had concerns about the validity of marketing claims made by some companies that provide them. These tests “deliver uncertain information and create patient expectations that may align poorly with evidence; clinical priorities; or in some cases the patient’s best interests,’’ Wylie Burke MD, PhD and her co-author wrote. Burke is a professor at the University of Washington’s Department of Bioethics and Humanities.

“[The] effect of genetics is generally small compared with other risks,” they added. As an example, the editorial noted that a person’s body mass index might be a more important indicator of risk for type 2 diabetes than a genetic score.

The study suggested that there is a need for more primary care physician education on genetic testing. “Given the increasing importance of genetic considerations in primary care over the past decade and repeated calls for physician education initiatives in genomics, all PCPs [primary care physicians] should have adequate clinical skills to at least engage in a discussion about genetic testing ….” wrote lead author Robert C. Green, MD, MPH, a medical geneticist and physician-scientist at Brigham and Women’s Hospital, Harvard Medical School.