Introduction: Female breast cancer patients carrying a BRCA1/2 mutation have an increased risk of second primary breast and ovarian tumors. Rapid genetic counseling and testing (RGCT) may aid in making informed decisions about therapeutic and preventive surgery and adjuvant treatment. Little is known about the effects of RGCT on treatment decisions and psychosocial well-being. We have performed a randomized controlled trial to investigate these issues.

Methods: Newly diagnosed breast cancer patients from 12 Dutch hospitals with at least a 10% risk of carrying a BRCA1/2 mutation were randomized to an intervention group (RGCT) or a usual care control group (ratio 2:1). Study outcomes included uptake of RGCT, choice of type of surgery, cancer risk perception, cancer-specific distress, quality of life and decisional satisfaction. Assessments took place at study entry, and at 6 and 12 months follow-up.

Results: Between 2008 and 2010, 271 patients were recruited, of whom 3 subsequently withdrew. The remaining 268 patients were randomized to the intervention (n = 181) or control (n = 87) group. Complete questionnaire data were available for 250 (93%) and 243 (91%) patients at 6 and 12 months follow-up, respectively. Of the 181 women in the intervention group, 180 (98%) underwent genetic counseling after a median of 4 days. One-hundred thirteen (63%) of them opted for accelerated DNA test procedures, of whom 72 underwent rapid testing (results available in <4 weeks) and 41 semi-rapid testing (results available in 4 weeks to 4 months). DNA test results were available before primary surgery for 65 patients (36%) in the intervention group. Of these 65 patients, 8 (12%) were BRCA1/2 carriers and 11 (20%) had a bilateral mastectomy. Of the remaining 68 patients in the intervention group, 67 opted for standard DNA test procedures at some time during the study period. In the control group, 8 patients (9%) underwent rapid genetic counseling, of whom 7 underwent rapid DNA testing. In total, 22/220 (10%) of patients who had their DNA tested were BRCA1/2 mutation carriers. There was no statistically significant difference between the intervention and control group in percentage of patients with unilateral breast cancer opting for a bilateral mastectomy (12% versus 9%, p = 0.33). Of the BRCA1/2 carriers in the intervention group with unilateral breast cancer, 27% opted for a bilateral mastectomy. There was also no significant difference observed between the intervention and control groups in the percentage of patients opting for breast-conserving surgery rather than unilateral mastectomy (45% and 46% in the intervention and control group, respectively). Data on additional surgery performed during follow-up and psychosocial outcomes will be available at the time of the conference.

Conclusion: The uptake of rapid genetic counseling among high-risk breast cancer patients was high, and the majority of patients underwent accelerated DNA-testing procedures. However, RGCT did not have a significant effect on choice of type of primary surgery. In part, this may be explained by the fact that surgeons and patients often did not wait for DNA test results before primary surgery. Conclusions regarding the psychosocial impact of RGCT will be presented at the time of the conference.

Citation Information: Cancer Res 2012;72(24 Suppl):Abstract nr P4-11-01.