About 1 in 200 Canadians carry a mutation in high-risk cancer genes like BRCA1 or BRCA2, but only about 10% of them know it. These hereditary cancer syndromes (HCS) can affect multiple family members. That’s why it’s important for relatives of someone with a known mutation to be encouraged to undergo “cascade” testing. When family members are identified early, they can access publicly funded prevention and treatment options, leading to earlier diagnoses and better cancer outcomes.

A new test called Parent-of-Origin-Aware genomic analysis (POAga) can help determine whether a mutation came from the mother’s or father’s side of the family. This information helps identify which relatives are truly at risk, allowing healthcare providers to focus testing and support where it’s most needed. POAga could help reduce pressure on BC’s healthcare system by using resources more efficiently.

Currently, POAga is only available through research, because we don’t yet know how it affects patients, families, healthcare providers or healthcare budgets. To address this, this project will first conduct interviews and focus groups involving healthcare decision-makers and community members—especially from equity-deserving and underserved populations—to understand their concerns and what kind of evidence is needed to support POAga.

Next, researchers will offer POAga to cancer patients who already have positive genetic test results and survey both patients and genetic counsellors to further understand barriers and process considerations for implementation. This will produce data to better understand POAga's feasibility, accuracy, resource impact, as well as patient and family outcomes. Finally, the findings will be used to create a complete evidence package for implementing POAga in BC. This package will be developed and evaluated in collaboration with health system stakeholders. Findings will be translated directly into implementation efforts at BC Cancer.