Implementation of a clinical population screening program for BRCA1/2 mutations among individuals of Ashkenazi Jewish ancestry

This Health Systems Impact Fellowship is co-funded by CIHR, Michael Smith Health Research BC, and BC Cancer (health system partner), to help build BC’s health policy research capacity for the integration of policy research into decision-making. 

Approximately 1 in 40 individuals with Ashkenazi Jewish ancestry are born with a mutation in the BRCA1 or BRCA2 gene, in comparison to 1 in 200 in the general population. These individuals are at a high risk to develop multiple cancers over their lifetime, including breast and ovarian cancer for females. Genetic testing can help to determine whether an individual has a BRCA1/2 mutation. Once identified to have a mutation, patients can become eligible for more cancer screening (e.g. yearly breast mammograms and MRIs for females) and have the option to undergo surgery to reduce their risk (e.g. removal of ovaries). These can reduce the risk of cancer or help to detect it early. Current programs to identify individuals with BRCA1/2 mutations are not effective; less than 50% of these individuals are identified. To address this gap in cancer care, Dr. Intan Schrader, Dr. Sophie Sun and their team at the Hereditary Cancer program at BC Cancer have designed a pilot population screening program, which will allow anyone of Ashkenazi Jewish ancestry to obtain testing for BRCA1/2 gene mutations. The proposed project will also involve design and implementation of a public education campaign and adaption of a patient-facing digital tool that will guide patients through the population screening program. Altogether we hope this project generates evidence to support the implementation of a population-wide screening program for all residents of BC, to reduce the burden of cancer in the province.