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sector_ico_Health_trans Human Health

Parent–of–Origin–Aware genomic analysis

  • Project Leaders: Steven Jones, Kasmintan Schrader, Peter Lansdorp
  • Institutions: BC Cancer (Previously BC Cancer Agency (BCCA))
  • Budget: $6040300
  • Program/Competition: Genomic Applications Partnership Program (GAPP)
  • Genome Centre(s): Genome Canada
  • Fiscal Year: 2022
  • Status: Active

Around 300,000 unidentified Canadians are at high risk for developing hereditary cancers. This is a missed opportunity for preventing or catching cancer early. Although current genetic testing can inform a patient’s inherited risk for disease, it does not predict which side of the family an autosomal variant comes from. This limitation can lead to costly and ineffective genetic counselling and testing of multiple family members from both sides (known as cascade genetic testing).

This project will validate a new technology, Parent‐of‐Origin‐Aware genomic analysis (POAga), in real-world hereditary cancer patient samples in British Columbia and the Yukon. Preliminary data demonstrates that this technology offers 99% accurate prediction of the parent‐of‐origin, using only the blood sample of the child. Once in clinical use, the anticipated benefits of POAga include a 50% increase in the efficiencies in cascade genetic testing, in the number of carriers identified, and in mutation detection rates, as well as reduced financial and emotional benefits for patients and their families. Success will position BC Cancer as a global centre of excellence for POAga. The technology can then potentially be expanded to other hereditary cancer syndromes and non‐cancer related genetic diseases.