Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations. Issue 7 (22nd April 2015)

• Record Type: Journal Article
• Authors: Lerner-Ellis, Jordan; Wang, Marina; White, Shana; Lebo, Matthew S
• Other Names: author non-byline.; Agatep Ron author non-byline.; Ainsworth Peter author non-byline.; Akbari Mohammad R author non-byline.; Aronson Melyssa author non-byline.; Bader Gary D author non-byline.; Basran Raveen author non-byline.; Blavier Andre author non-byline.; Blumenthal Andrea author non-byline.; Buckley Kathleen author non-byline.; Campbell Jodi author non-byline.; Campeau Philippe M author non-byline.; Care Melanie author non-byline.; Carson Nancy author non-byline.; Carter Ronald author non-byline.; Charames George author non-byline.; Chitayat David author non-byline.; Chong George author non-byline.; Chouinard Edmond author non-byline.; Chun Kathy author non-byline.; Craddock Kenneth J author non-byline.; Docking Rod author non-byline.; Eisen Andrea author non-byline.; Faghfoury Hanna author non-byline.; Farrell Sandra author non-byline.; Feilotter Harriet author non-byline.; Fernandez Bridget author non-byline.; Forster-Gibson Cynthia author non-byline.; Foulkes William author non-byline.; Hegele Robert author non-byline.; Holter Spring author non-byline.; Horsburgh Sheri author non-byline.; Hughes Lauren author non-byline.; Hume Stacey author non-byline.; Jewett Franny author non-byline.; Karsan Aly author non-byline.; Khalouei Sam author non-byline.; Knoll Joan author non-byline.; Kolomeitz Elena author non-byline.; Maire Georges author non-byline.; Marshall Christian author non-byline.; McCready Elizabeth author non-byline.; Moorhouse Michael J author non-byline.; Morel Chantal author non-byline.; Nelson Tanya author non-byline.; O'Connor Brian author non-byline.; Ouellette Francis author non-byline.; Parboosingh Jillian author non-byline.; Ray Peter author non-byline.; Rehm Heidi author non-byline.; Riddell Christie author non-byline.; Rosenblatt David S author non-byline.; Ruchon Andrea author non-byline.; Sadikovic Bekim author non-byline.; Semotiuk Kara author non-byline.; Scherer Stephen W author non-byline.; Shuman Cheryl author non-byline.; Silver Josh author non-byline.; Siminovitch Katherine author non-byline.; Solomon-Izsak Lesley author non-byline.; Speevak Marsha author non-byline.; Stavropoulos James author non-byline.; Stein Lincoln author non-byline.; Tannenbaum Rhonda author non-byline.; Terespolsky Deborah author non-byline.; Wintle Richard F author non-byline.; Wong Beatrix author non-byline.; Wong Nora author non-byline.; Waye John S author non-byline.; Woods Michael O author non-byline.; Wyatt Philip author non-byline.; Young Sean author non-byline.;
• Is Part Of: Journal of medical genetics. Volume 52:Issue 7(2015)
• Page Start: 438
• Page End: 445
• Publication Date: 2015-04-22
• Subjects: Genetic screening/counselling -- Clinical genetics -- Diagnostics tests -- Evidence Based Practice -- Genetics; Medical genetics -- Periodicals; 616.042
• DOI: 10.1136/jmedgenet-2014-102933
• Languages: English
• ISSNs: 1468-6244

Abstract

Abstract : Background: 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. Methods: 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. Results: 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. Conclusions: 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.