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Utilization of BRCA1/BRCA2 Mutation Testing in Newly Diagnosed Breast Cancer Patients

¹ Department of Oncology, Lombardi Comprehensive Cancer Center, Georgetown University, Washington District of Columbia and ² Department of Psychiatry, Abramson Cancer Center, University of Pennsylvania, Philadelphia, Pennsylvania

Requests for reprints: Marc D. Schwartz, Lombardi Comprehensive Cancer Center, Cancer Control Program, Georgetown University School of Medicine, Suite 317, 2233 Wisconsin Avenue, Northwest, Washington, DC 20007. Phone: 202-687-0185; Fax: 202-687-8444. E-mail: schwartm{at}georgetown.edu

Background: Among newly diagnosed breast cancer patients who are at risk for carrying a BRCA1 or BRCA2 mutation, knowledge of mutation status can influence local breast cancer treatment decisions. Thus, genetic testing at the time of diagnosis is increasingly considered an option for such patients. In this study, we evaluated factors associated with the decision to undergo BRCA1/BRCA2 gene testing at the time of initial breast cancer diagnosis.

Methods: Participants were newly diagnosed breast cancer patients who had not yet received definitive local breast cancer treatment and who had a family history consistent with hereditary breast cancer. Participants were offered genetic counseling and BRCA1/BRCA2 testing with results in 2 to 3 weeks.

Results: Of 231 patients who referred to the study, 20 (9%) declined the baseline interview, 34 (15%) completed a baseline interview but declined genetic testing, and 177 (76%) underwent BRCA1/BRCA2 testing. Physician recommendation for BRCA1/BRCA2 testing and indecision about definitive local treatment were both associated with undergoing testing. Among patients who were tested, 38 (21%) proceeded with definitive local treatment before receiving test results. Delay in the availability of test results and low levels of anxiety were associated with the decision to proceed with definitive local treatment before receiving test results.

Conclusions: These results suggest that if rapid testing is available and genetic referrals are made for appropriate patients, a high proportion are likely to opt for such testing. In particular, patients who have not yet reached a decision about definitive local treatment may benefit from a genetic referral.

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