Women with a mutation in one of the breast cancer genes (BRCA1 or BRCA2) have up to an 80% lifetime risk of developing breast cancer. Furthermore, Dr. Kelly Metcalfe’s research suggests that if these women develop breast cancer, treatment should be different than women without a BRCA mutation to increase the chance of survival. However, most women do not know if they have a BRCA mutation at the time of breast cancer diagnosis when treatment choices are being made. Dr. Metcalfe believes that this needs to change! As a result, she is leading an interdisciplinary team of researchers – with scientists from Women’s College Hospital, Sunnybrook Health Science Centre, Mount Sinai Hospital, the University Health Network and North York General Hospital, that were recently awarded a $1.7 million research grant from the Canadian Institutes of Health Research (CIHR). Receiving the highest ranking from the grant review committee, this five-year study provides rapid genetic testing for BRCA1 and BRCA2 to women newly diagnosed with breast cancer.
“I believe that if women know they have a BRCA mutation, they can make more informed decisions about their breast cancer treatment, and as a result, increase the chance that they will survive.”
Typically genetic testing for BRCA1 and BRCA2 takes approximately three months. Therefore for women with a new breast cancer diagnosis, test results are not available before cancer surgery and treatment. Dr. Metcalfe is taking advantage of new genetic technology, and can now provide genetic test results within one week. The goal of the study is to determine if the provision of rapid genetic testing prior to cancer surgery results in increased uptake of targeted breast cancer treatments in women with BRCA mutations compared to those who received standard genetic testing. If there are significant differences in uptake of treatments by type of genetic testing received, Dr. Metcalfe will be in a position to lobby for rapid genetic testing provision for high-risk women with newly diagnosed breast cancer. The results of this study and ensuing changes in delivery of cancer genetics services could ultimately have a profound influence on cancer-related mortality in women with BRCA-associated breast cancer.