Grant: Genomics and Personalized Health -Large-Scale Applied Genomics Res Projects

Breast cancer (BC) is the most common cancer and second leading cause of cancer death in Canadian women. A woman faces a one in eight chance of developing the disease in her lifetime. Currently, women aged 50 to 74 are recommended to have a mammogram every 2 to 3 years. To maximize the benefits and reduce harms, women should be screened based on their personal risk of the disease. More precise risk assessment combining data on genomic profiling and other BC risk factors has the potential to markedly increase the proportion of identifiable high risk women. This project will provide evidence that can significantly expand the benefits of current age-based population screening programs by supporting the transition to a risk-based approach. It will also improve counseling of women with a family history of BC who are seen in cancer genetic clinics. Earlier detection of BC will allow more cancers to be detected while they are still small and curable, which in turn will save lives and bring significant health and socio-economic benefits. By studying very large cohorts of women using high throughput genomic technologies together with statistical and epidemiological methods, this project will develop a validated multi-gene panel test including genetic variants reliably associated with BC risk. This will enable individualized risk assessment and improve the counseling process by health care providers for women with and without a known BC family history. To support a framework for future implementation of a risk-based screening approach, a large population-based cohort will be assembled to evaluate the acceptability and feasibility of using a new comprehensive risk prediction web tool and a genomic profiling test within the existing health care system. The cohort will be followed to determine behavioural, psychosocial and clinical outcomes. Policies will be developed to address the socio-ethical and legal challenges for women, health professionals and decision makers associated with implementing risk-based breast screening. By providing this evidence, this project will change breast screening practice and ensure better use of human and financial resources. Women will face less invasive BC treatment with fewer complications and improved quality of life and survival, thereby reducing both the clinical and economic burden for a large proportion of Canadian women.