Canadian Institutes of Health Research (CIHR)
Each year, 5% of all new breast cancer cases are estimated to be due to mutations in the BRCA1 and BRCA2 genes. Recent evidence shows that these BRCA-associated breast cancers should receive different, more targeted treatments to decrease risks of new cancers and increase chance of survival. However, the benefits of this recent research are hindered due to the lack of genetic testing and the length of time it takes to receive test results. Hence, most women with newly diagnosed breast cancer are unaware of their BRCA status, opting for less personalized and targeted treatments.
Currently, genetic testing for BRCA1 and BRCA2 is provided to eligible women by the Ontario Ministry of Health and Long Term Care. The average turnaround time for the test takes 4-6 months. Even expedited testing, provided at initial diagnosis of breast cancer, usually takes 4-6 weeks. Typically, breast cancer surgery would be performed within this time, prior to the availability of genetic test results. New genetic technology offers rapid genetic testing and genetic test results can now be available within one week. Unfortunately, this option is not currently available due to the cost and volume of genetic testing. However, with the addition of new laboratory equipment, our research group is now able to provide rapid genetic testing within a research setting.
Women with newly diagnosed invasive breast cancer who meet criteria will be eligible to receive rapid genetic testing for mutations in the BRCA genes, providing them with results within 10 days, prior to their cancer surgery.
We would like to evaluate whether availability of genetic test results (knowledge of BRCA status) at the time of initial breast cancer prior to surgery influences patient choice of surgical and medical treatments. This research will provide evidence for how rapid genetic testing affects treatment choices and will inform the future delivery of cancer genetics services for newly diagnosed breast cancer patients