Assessing patient satisfaction with simplified BRCA1/2 testing


As simplified and streamlined BRCA1/2 testing becomes more available, a new study examined whether patients prefer this method of counseling.

breast cancer

©Sebastian Kaulitzki -

Unselected breast cancer patients were highly satisfied with simplified and streamlined BRCA1/2 testing, according to long-term results of a prospective study in the journal Breast Cancer: Research and Treatment.

Among 805 patients newly diagnosed with breast cancer from the population of the BRCA search study, 67% consented to germline BRCA1 and BRCA2 mutation testing. Instead of in-person genetic counseling, pretest information was provided via a standardized invitation letter. However, patients were offered contact with a genetic counselor for telephone genetic counseling if desired.

Mutation carriers were telephoned and given a time for a face-to-face, post-test genetic counseling, whereas non-carriers were informed about their test result by letter. One year after the test results were delivered, a study-specific questionnaire was mailed to participants who had consented to testing. The response rate was 83.1%.

Nearly all responders-96.0%-were satisfied with the method used for providing information, and 98.7% were content with having pursued genetic testing. In addition, 97.8% would recommend that a female friend with breast cancer pursue genetic testing in the same way.

Only 11% of patients stated they would have liked to have received more oral information. Patients with somatic comorbidity (odds ratio [OR] 2.56; P = 0.02) and patients born outside of Sweden (OR 3.54; P = 0.01) were more likely to have desired more oral information, while patients with occupations requiring at least 3 years of university or college education (OR 0.37; P = 0.06) were less likely. Of the 49 patients who stated they wanted to receive more oral information, only five contacted the study investigators for questions and 45 reported they were content with the method used for providing information. All 11 patients (2.0%) who were BRCA1/2 mutation carriers attended in-person, post-test genetic counseling. The authors believe it is prudent to recommend simplified methods for pretest information, assuming that proper post-testing genetic counseling is conducted by a genetics professional and that mutation carriers who are aware of their mutation carrier status are given the option of prophylactic surgeries or surveillance programs. The authors also pointed out that current testing procedures based on selection criteria fail to detect up to half of the mutation carriers. They would rather allocate the limited resource of genetic professionals to mostly post-test genetic counseling.

“Written pre-test information has now replaced in-person pretest counseling for breast cancer patients in our health care region,” the Swedish authors wrote. “As a consequence, germline BRCA1/2 testing can now be offered to a much larger number of breast cancer patients than what previously was possible.”

Still, it is important to offer all patients the option of complementary telephone or in-person counseling, and that all mutation carriers be offered post-test, in-person genetic counseling.

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