Project Funding Details

Lay abstract (no permission to release technical abstract): Not available Genetic testing for mutations of BRCA 1/2 genes is offered to people who meet criteria according to age and personal and family history of breast and ovarian cancers. It is estimated that about 10% of people tested are found to have genetic mutations. This group is recommended to under breast screening at an earlier age due to increased lifetime risk of developing breast and ovarian cancers. Our study aims to evaluate the real world impact of genetic testing for BRCA 1/2 mutations. We are interested in evaluating patterns of cancer screening and preventative care among mutation carriers who do not develop cancer; how women who develop cancer utilize breast cancer treatments and risk-reducing surgeries; and if genetic testing for these mutations is cost effective for the entire population of Ontario. We will create a large dataset of over 10,000 women who have undergone genetic testing from 2007 to the present tested at Mount Sinai and North York General Hospitals – this represents close to 70% of the testing that occurs in the province. We will link genetic testing data to health care databases to find cancer diagnoses, use of screening and surgery, and death information. We will be able to determine patterns of screening for women and surgery for women who have undergone gene testing, and incidence of cancer and mortality among the population. We will look at factors that influence whether women adhere to recommendations based on their test results. Lastly, we will be able to use all of this information to conduct a cost analysis study of genetic testing that will compare the costs and outcomes of testing and no testing. We will share our results with the medical, scientific and public community to enhance understanding of how genetic testing affects short and long-term outcomes and to improve care for these women in Ontario.