Clinical Utility of the 12-Gene DCIS Score Assay: Impact on Radiotherapy Recommendations for Patients with Ductal Carcinoma In Situ.

OBJECTIVE: The aim of this study was to determine the impact of the results of the 12-gene DCIS Score assay on (i) radiotherapy recommendations for patients with pure ductal carcinoma in situ (DCIS) following breast-conserving surgery (BCS), and (ii) patient decisional conflict and state anxiety. METHODS: Thirteen sites across the US enrolled patients (March 2014-August 2015) with pure DCIS undergoing BCS. Prospectively collected data included clinicopathologic factors, physician estimates of local recurrence risk, DCIS Score results, and pre-/post-assay radiotherapy recommendations for each patient made by a surgeon and a radiation oncologist. Patients completed pre-/post-assay decisional conflict scale and state-trait anxiety inventory instruments. RESULTS: The analysis cohort included 127 patients: median age 60 years, 80 % postmenopausal, median size 8 mm (39 % ≤5 mm), 70 % grade 1/2, 88 % estrogen receptor-positive, 75 % progesterone receptor-positive, 54 % with comedo necrosis, and 18 % multifocal. Sixty-six percent of patients had low DCIS Score results, 20 % had intermediate DCIS Score results, and 14 % had high DCIS Score results; the median result was 21 (range 0-84). Pre-assay, surgeons and radiation oncologists recommended radiotherapy for 70.9 and 72.4 % of patients, respectively. Post-assay, 26.4 % of overall recommendations changed, including 30.7 and 22.0 % of recommendations by surgeons and radiation oncologists, respectively. Among patients with confirmed completed questionnaires (n = 32), decision conflict (p = 0.004) and state anxiety (p = 0.042) decreased significantly from pre- to post-assay. CONCLUSIONS: Individualized risk estimates from the DCIS Score assay provide valuable information to physicians and patients. Post-assay, in response to DCIS Score results, surgeons changed treatment recommendations more often than radiation oncologists. Further investigation is needed to better understand how such treatment changes may affect clinical outcomes.

Retrospective comparison of patient outcomes after in-person and telephone results disclosure counseling for BRCA1/2 genetic testing.

Telephone disclosure of BRCA1/2 molecular genetic test results has been proposed as a feasible alternative to traditional in-person results disclosure. The purpose of this study was to investigate the relationship between method of result disclosure with the patient outcome variables of knowledge, cancer worry, cancer risk perception, satisfaction, and cancer screening and prophylactic surgery behaviors. Study participants included 228 women who completed retrospective, self-administered, mailed surveys regarding their pre-test genetic counseling and results disclosure. No significant relationships were found between result disclosure method and the outcome variables investigated. A majority (90%) of individuals who received positive results by telephone returned for follow up visits. Factors which genetic counselors believed influenced their clinical decision to offer telephone disclosure, such as history of breast cancer, a priori risk of genetic mutation and family history of known mutation were not shown to significantly impact the actual disclosure method. This study suggests that telephone results disclosure is clinically appropriate when counselors utilize their clinical judgment to determine which patients are appropriate candidates.