sector_ico_Health_trans Human Health

Enhanced Population Cancer Care through Mainstream Genome Sequencing and Parent-of-Origin Detection

323ECC
  • Project Leaders: Kasmintan Schrader, Peter Lansdorp, Steven Jones
  • Institutions: BC Cancer (BCCA)
  • Budget: $11999914
  • Program/Competition: Canadian Precision Health Initiative (CPHI)
  • Genome Centre(s): Genome Canada
  • Fiscal Year: 2025
  • Status: Active

Fewer than 10% of Canadians with an inherited risk for cancer have been identified to date. Many eligible patients are never referred for genetic testing. There is a limited capacity of trained genetics professionals. Too few family members complete follow up testing when a hereditary cancer risk is discovered.

BC and the Yukon have introduced a more streamlined approach to address these challenges, including universal multi-gene panel testing, oncologist-initiated testing and “mainstreamed” genetic testing, where non-genetics providers can order and return results. A dedicated genetic counselling team reviews all cases and refers patients with positive results or concerning histories for further evaluation. A new digital portal also helps patients access testing more quickly and efficiently.

Building on these advances, this project will introduce whole genome sequencing (WGS) into routine cancer genetic testing across Canada, allowing for a more comprehensive assessment of hereditary cancer risk. The project will also implement Parent-of-Origin-Aware genomic analysis (POAga), which determines whether an inherited genetic variant comes from the mother or father. This information will improve family-based genetic testing, helping at-risk relatives get tested sooner.

This project will expand access to genetic testing and improve how hereditary cancer risk is identified. It will ensure that more Canadians receive equitable, timely cancer care while advancing Canada’s leadership in genomic medicine.