by Barbara Clements, University of Washington School of Medicine

genetic test

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Skipping genetic counseling before or after taking a remote screening of inherited risk for ovarian or breast cancer does not increase distress, anxiety or depression, according to a study published Sept. 14 in JAMA Oncology.

"The accepted idea was that you needed genetic counseling before taking a genetic test," said Dr. Elizabeth Swisher, a gynecologic oncologist at UW Medicine and professor of obstetrics and gynecology at the University of Washington School of Medicine. "But we're finding out that many of these protocols actually represent barriers to testing."

Swisher, the study's lead author, said the clinical best practices were established more than two decades ago, before these tests became more widespread and available.

"Overall, it was a positive study," Swisher said. "There were not any indications of emotional stress by leaving out counseling, either before or after the test was taken for those people with negative results."

The findings emerged from a randomized clinical trial of 3,839 women enrolled between April 2017 and September 2020. The participants agreed to be tested for genetic markers of the two cancers. Some received pre- and post-test counseling, and some did not. Participants rated their distress and anxiety levels before and after testing. Everyone who had a positive finding of increased risk received post-test counseling. Women who did not have a finding of higher cancer risk could skip genetic counseling without increased distress, the study found.

This research was part of the three-year project called MAGENTA, shorthand for Making Genetic Testing Accessible. MAGENTA aimed to assess the impact of eliminating mandatory pre-test for everyone and post-test genetic counseling for patients for whom screening did not indicate a familial pathogenic variation.

Swisher compared the requirement for pre- and post-test counseling to what she witnessed as a medical student in the 1980s, when HIV testing was first offered during the AIDS epidemic.

"You'd get counseled, provide consent for testing and then you'd come back for the results," she said. "In the end, you'd only see highly educated white men get tested."

The more diverse populations who needed testing at that time were notably absent, she said. Today, HIV screening can be obtained at your local pharmacy or walk-in clinic. No counseling required.

Some people prefer to get the context provided during individualized counseling before undergoing a genetic test for cancer markers. But many people find it easier, cheaper and more convenient to skip counseling, the study findings showed.

"In this relatively low-risk testing, (skipping counseling) did not appear to cause harm," Swisher noted, and it increased the portion of individuals who completed the testing.

Ultimately, Swisher said, she'd like to see all adults routinely undergo a comprehensive screening for genetic cancer risk, with individualized follow-up only in the case of a positive result, as with mammograms today.

More information: Elizabeth M. Swisher et al, Remotely Delivered Cancer Genetic Testing in the Making Genetic Testing Accessible (MAGENTA) Trial, JAMA Oncology (2023). DOI: 10.1001/jamaoncol.2023.3748

Journal information: JAMA Oncology 

Provided by University of Washington School of Medicine