Description:

It is essential to include Canada’s diverse ancestries in genomic databases in order to achieve accurate variant interpretation and precision health care. This session will provide updates on the Indigenous Background Variant Library (IBVL) and the Pan- Canadian Genome Library (PCGL), two initiatives designed to improve genetic diagnosis by incorporating underrepresented variants. This session will also review current standards for applying allele frequency information toward variant classification. We will discuss the rationale for their creation, their impact on reducing health disparities, and the ethical considerations in their development and use, particularly as related to Indigenous sovereignty.

Objectives

At the end of the session, participants will be able to:

  • Describe how population-specific genomic data improves equitable variant interpretation and genetic diagnosis.
  • Summarize the most effective use of population allele frequency data in variant interpretation.
  • Outline ethical considerations in developing and using Indigenous and Canadian-specific genomic databases.
  • Describe updates on the PCGL and IBVL.
  • Compare between the GNOMAD genetic variation database and the Indigenous Background Variant Library.
  • Describe the data within the IBVL when assessing a variant of interest.
  • Discuss hot to include Indigenous Background Variant Library in diagnostic reports about uncertain genetic variants arising from genetic analyses.

Target Audience: Clinical Geneticists, Laboratory Geneticists, Genetic Counsellors, Trainees, Molecular Pathologists

CanMEDS Roles: Medical Expert (the integrating role), Communicator, Collaborator, Leader, Health Advocate, Scholar, Professional

Speakers:

Dr. Nadine Caron Professor of Surgery, University of British Columbia, 10 min.
Dr. Wyeth Wasserman, Professor of Medical Genetics, University of British Columbia, 10 min.
Dr. Anna Lehman, Associate Professor of Medical Genetics, University of British Columbia 10 min.
Dr. Claude Bhérer
Morgan Ehman


Event Timeslots (1)

Plenary
-
KC 101-103-105 - Dr. Anna Lehman, Dr. Wyeth Wasserman, Dr. Claude Bhérer, Morgan Ehman, Dr. Nadine Caron