Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

Jordan Lerner-Ellis, Marina Wang, Shana White, Matthew S Lebo, Ron Agatep, Peter Ainsworth, Mohammad R Akbari, Melyssa Aronson, Gary D Bader, Raveen Basran, Andre Blavier, Andrea Blumenthal, Kathleen Buckley, Jodi Campbell, Philippe M Campeau, Melanie Care, Nancy Carson, Ronald Carter, George Charames, David Chitayat, George Chong, Edmond Chouinard, Kathy Chun, Kenneth J Craddock, Rod Docking, Andrea Eisen, Hanna Faghfoury, Sandra Farrell, Harriet Feilotter, Bridget Fernandez, Cynthia Forster-Gibson, William Foulkes, Robert Hegele, Spring Holter, Sheri Horsburgh, Lauren Hughes, Stacey Hume, Franny Jewett, Aly Karsan, Sam Khalouei, Joan Knoll, Elena Kolomeitz, Georges Maire, Christian Marshall, Elizabeth McCready, Michael J Moorhouse, Chantal Morel, Tanya Nelson, Brian O'Connor, Francis Ouellette, Jillian Parboosingh, Peter Ray, Heidi Rehm, Christie Riddell, David S Rosenblatt, Andrea Ruchon, Bekim Sadikovic, Kara Semotiuk, Stephen W Scherer, Cheryl Shuman, Josh Silver, Katherine Siminovitch, Lesley Solomon-Izsak, Marsha Speevak, James Stavropoulos, Lincoln Stein, Rhonda Tannenbaum, Deborah Terespolsky, Richard F Wintle, Beatrix Wong, Nora Wong, John S Waye, Michael O Woods, Philip Wyatt, Sean Young

The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across Canada. As clinical laboratories adopt modern genomics technologies, the need for this type of collaborative framework is increasingly important. A survey to assess existing protocols for variant classification and reporting was delivered to clinical genetics laboratories across Canada. Based on feedback from this survey, a variant assessment tool was made available to all laboratories. Each participating laboratory was provided with an instance of GeneInsight, a software featuring versioning and approval processes for variant assessments and interpretations and allowing for variant data to be shared between instances. Guidelines were established for sharing data among clinical laboratories and in the final outreach phase, data will be made readily available to patient advocacy groups for general use. The survey demonstrated the need for improved standardisation and data sharing across the country. A variant assessment template was made available to the community to aid with standardisation. Instances of the GeneInsight tool were provided to clinical diagnostic laboratories across Canada for the purpose of uploading, transferring, accessing and sharing variant data. As an ongoing endeavour and a permanent resource, the Canadian Open Genetics Repository aims to serve as a focal point for the collaboration of Canadian laboratories with other countries in the development of tools that take full advantage of laboratory data in diagnosing, managing and treating genetic diseases.