Genetic counseling appointment
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Research suggests that some women could forgo genetic counseling before or after taking a remote screening test for inherited breast or ovarian cancer risk without experiencing increased distress, anxiety, or depression.

Furthermore, omitting counseling increases the number of people who complete screening, reports Elizabeth Swisher, a gynecologic oncologist at UW Medicine and professor of obstetrics and gynecology at the University of Washington School of Medicine, and colleagues in JAMA Oncology.

“The accepted idea was that you needed genetic counseling before taking a genetic test,” says Swisher. “But we’re finding out that many of these protocols actually represent barriers to testing.”

The findings arose from the 3-year Making Genetic Testing Accessible (MAGENTA) project, which assessed the impact of eliminating mandatory pre-test genetic counseling for everyone and post-test counseling for patients for whom screening did not indicate a familial pathogenic genetic variant.

In total, 3,839 women aged 30 years or older living in the USA were included in the study. Of these, 3,125 participants had a personal or family history of breast or ovarian cancer and 714 reported one biological relative with a pathogenic variant in an actionable cancer susceptibility gene.

The study participants were randomly assigned to either a control arm with pretest and posttest genetic counseling via telephone or to one of three study arms with no mandatory pretest or posttest counseling, mandatory posttest counseling only, or mandatory pretest counseling only.

All the women were tested for genetic markers of breast and ovarian cancer via a home-delivered saliva kit and, in all arms, posttest counseling was required for participants with pathogenic variants detected. In addition, participants in any arm could opt for telephone counseling at any point.

Overall, pathogenic variants were detected in 3.2% of participants in the family history cohort and 5.5% in the familial variant cohort, indicating that this was not a population with high genetic risk.

Participants rated their distress and anxiety levels before and at 3 and 12 months after genetic testing. At 3 months, 19% reported very high distress overall and the rate did not differ significantly across the arms. There was also no significant difference between the study groups and the control group in the median scores for distress, depression, anxiety, or decisional regret at either 3 or 12 months.

There was a difference, however, between the arms in the proportion who completed genetic testing and received their results. The completion rates were 76.9% and 78.6% for the groups that had no mandatory pre- or posttest counseling and mandatory posttest counseling only, respectively, compared with 69.2% and 66.4% in the groups that required both pre- and posttest counselling and pretest counseling only, respectively.

This suggests “that even in the setting of remote care delivery and telephone counseling, the requirement for pretest genetic counseling may serve as a barrier,” Swisher and co-authors write. They also note that “participants with higher baseline anxiety or depression, but not distress, had significantly lower completion rates, but that finding did not vary by arm.”

“Overall, it was a positive study,” Swisher says. “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 researchers now plan to follow up the impact of the study on important health behaviors, such as cancer screening and family communication, which they say are frequent topics emphasized during genetic counseling.

They conclude: “The traditional clinical paradigm of mandatory individualized pretest and posttest counseling may introduce barriers to genetic services for some patients, including increased appointments and time, increased cost, and inadequate access to trained genetics professionals. Eliminating mandatory counseling will provide more flexibility for patients and reduce costs.”

However, in an accompanying editorial Huma Rana and Judy Garber, both from the Dana-Farber Cancer Institute stress that “[t]he MAGENTA trial results should not be interpreted by clinicians or insurers as demonstrating the lack of value of genetic counseling, especially posttest, in ways not evaluable in the MAGENTA trial.”

They say: “Posttest counseling for patients with pathogenic variants provides psychosocial support, referrals for medical management, and assistance with cascade testing for appropriate relatives, despite which uptake is historically poor.

“For patients without pathogenic variants, genetic counselors also provide personalized cancer risk assessment, interpretation of variants of uncertain significance and interpretation of uninformative negative results. Families with a high cancer burden but no identifiable variant may still warrant specialized care.”

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