December 10, 2015
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Counseling increases knowledge, decreases anxiety among women undergoing comprehensive genetic screening

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SAN ANTONIO — Pre- and post-test counseling appeared to increase knowledge and decrease anxiety among at-risk BRCA1/2-negative women undergoing comprehensive genetic screening, according to study results presented at the San Antonio Breast Cancer Symposium.

“Although comprehensive genetic testing is becoming more widely available, the potential benefits and risks for patients are unknown,” Angele R. Bradbury, MD, assistant professor of hematology/oncology at University of Pennsylvania’s Abramson Cancer Center, said in a press release. “The new study shows that when providing patients with counseling both before and after testing, most report an increase in knowledge and decreases in anxiety and uncertainty after learning the test results.”

Bradbury and colleagues developed a tiered-binned counseling model for multiplex testing of BRCA1/2-negative individuals. Under the model, individuals complete pre- and post-test counseling, as well as surveys that evaluate cognitive, affective and behavioral response to a 25-gene multiplex testing panel.

At the time of the analysis, 124 patients have consented to participate out of the 376 who were invited. Six percent of the remaining patients declined, and 61% were still considering study entry at the time of the analysis.

Ninety-five patients have completed pre-test counseling, 88 (93%) of whom decided to proceed with the genetic testing. Researchers classified 81% of patients as having made an informed choice after counseling.

Of 53 patients who have received results, six received a positive result, including one mutation in MSH2, and five in moderate-penetrance genes ATM (n = 2), BARD1 (n = 1), CHEK2 (n = 1) and PALB2 (n = 2). Twenty-two patients had a variant of unknown significance.

Among the 49 patients who received results and completed post-disclosure surveys, general anxiety (range, 0-21) decreased from a mean of 6.9 (standard deviation [SD], 3.9) at baseline to 6.6 (SD, 4.2) after the pre-test counseling to 5.8 (SD, 4.5; P ≤ .01) after post-test counseling.

Knowledge (range, 17-82) increased from 66.5 (SD, 5) at baseline to 68.4 (SD, 5.6; P ≤ .01) after pre-test counseling.

However, cancer worry (range, 0-75) significantly decreased from baseline (20.1; SD, 13.8) to post–pre-test counseling (17.2; SD, 11.9; P ≤ .01) but then significantly increase after post-test counseling (21; SD, 13.9; P ≤ .01). Greater worry appeared linked to lower income (2.6 points per income category; P ˂ .01).

Patients who received a result with a variant of unknown significance were more likely to have lower perceptions of the test’s utility compared with patients with negative (P = .01) or positive (P = .003) results.

Susan M. Domchek

The researchers noted that although they detected these associations, patient experiences tended to vary based on the test results, with some patients experiencing short-term increases in anxiety and sustained uncertainty after testing positive. These effects could be related to the limited information regarding certain mutations.

“There’s much we don’t know about some of the genes these panels tests examine,” Susan M. Domchek, MD, study researcher and executive director of the Basser Center for BRCA, said in the release. “While it can be reassuring to hear that you don’t have these mutations, we may not have a lot of information or effective treatment plans for some patients with a mutation in a cancer susceptibility gene. In those cases, patients are sometimes left with little choice but to wait until additional research helps guide management for their situations.” – by Alexandra Todak 

Reference: Bradbury AR, et al. Abstract P2-09-01. Presented at San Antonio Breast Cancer Symposium; Dec. 8-12, 2015; San Antonio.

Disclosure: The researchers report no relevant financial disclosures.