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HVP Country Node: Canada - Matthew Lebo


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An overview of medical genetics and data sharing in Canada

Published in: Science
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HVP Country Node: Canada - Matthew Lebo

  1. 1. SESSION VI HVP Country Nodes Thursday 2nd June Canada Dr. Matthew Lebo The Canadian Open Genetics Repository (COGR)
  2. 2. Canada: a snapshot • Clinical laboratories: 25-30 • Clinical Geneticists: 120 (members of CCMG) • Genetic Counselors: 300 (CAGC certified) • Genetic testing & genetic healthcare services: Publically - Ministries of Health for each province • National Human Genetics Society: Canadian College of Medical Geneticists (CCMG), Dr. Gail Graham, June 19th-21st, 2016
  3. 3. HVP Country Node: Canadian Open Genetics Repository • Year established: 2013 • Structure: Steering committee • Funding: Genome Canada and the Ontario Genomics Institution • Links with NHGS: Letter of support and members of CCMG within COGR • Ethical framework, privacy, consent: – FDA registered platform (GeneInsight) – Only sharing variant level data therefor privacy consent concerns mitigated
  4. 4. HVP Country Node: Technical • National data repository: • Data available nationally: Local instances on platform • Data available internationally: Anticipating release of public variant database end of Summer 2016 • Available: – Data Collection Policy: – Collection Agreement: Same as above – Data Access Policy: Same as above – Data Ownership Policy: Same as above
  5. 5. Progress, Plans and Problems • Progress in the past 12 months: – Doubled variant data holding – 11/23 institutions actively sharing data – Developed curation process and tools – First release of discrepancy reports (BRCA1/2 focused) in Winter 2016 • Plan for the next 12 months: – Publication on first discrepancy report release – Quarterly release of discrepancy reports – Prolong funding past 4th year – Stronger links to other genomic sharing efforts • Problems/barriers we face: – Funding – Obtaining data and enabling sharing from sites