Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR)

Autor: Matthew S. Lebo, Kathleen-Rose Zakoor, Kathy Chun, Marsha D. Speevak, John S. Waye, Elizabeth McCready, Jillian S. Parboosingh, Ryan E. Lamont, Harriet Feilotter, Ian Bosdet, Tracy Tucker, Sean Young, Aly Karsan, George S. Charames, Ronald Agatep, Elizabeth L. Spriggs, Caitlin Chisholm, Nasim Vasli, Hussein Daoud, Olga Jarinova, Robert Tomaszewski, Stacey Hume, Sherryl Taylor, Mohammad R. Akbari, Jordan Lerner-Ellis, Ron Agatep, Peter Ainsworth, Melyssa Aronson, Raveen Basran, Andre Blavier, Andrea Blumenthal, Kym Boycott, Michael Brudno, Kathleen Buckley, Jodi Campbell, Philippe M. Campeau, Melanie Care, Nancy Carson, Ronald Carter, George Charames, David Chitayat, George Chong, Edmond Chouinard, Kenneth J. Craddock, Rod Docking, Andrea Eisen, Hanna Faghfoury, Sandra Farrell, Bridget Fernandez, Marc Fiume, Cynthia Forster-Gibson, Jan Friedman, William Foulkes, Peter Goodhand, Jessica Gu, Robert Hegele, Spring Holter, Sheri Horsburgh, Lauren Hughes, Franny Jewett, Anne Junker, Sam Khalouei, Joan Knoll, Elena Kolomeitz, Bartha Knoppers, Ryan Lamont, Matthew Lebo, Georges Maire, Christian Marshall, Grant Mitchell, Michael J Moorhouse, Chantal Morel, Tanya Nelson, Abdul Noor, Brian O'Connor, Darren O'Rielly, Francis Ouellette, Jillian Parboosingh, Hilary Racher, Peter Ray, Heidi Rehm, Christie Riddell, Jean-Baptiste Riviere, David S. Rosenblatt, Guy Rouleau, Andrea Ruchon, Peter Sabatini, Bekim Sadikovic, Kara Semotiuk, Stephen W. Scherer, Cheryl Shuman, Josh Silver, Katherine Siminovitch, Lesley Solomon-Izsak, Jean-Francois Soucy, Marsha Speevak, James Stavropoulos, Lincoln Stein, Rhonda Tannenbaum, Deborah Terespolsky, Richard F. Wintle, Beatrix Wong, Nora Wong, Marina Wang, Nicholas Watkins, Shana White, Michael O. Woods, Philip Wyatt
Rok vydání: 2017
Předmět:
Zdroj: Genetics in medicine : official journal of the American College of Medical Genetics. 20(3)
ISSN: 1530-0366
Popis: PurposeThe purpose of this study was to develop a national program for Canadian diagnostic laboratories to compare DNA-variant interpretations and resolve discordant-variant classifications using the BRCA1 and BRCA2 genes as a case study.MethodsBRCA1 and BRCA2 variant data were uploaded and shared through the Canadian Open Genetics Repository (COGR; http://www.opengenetics.ca). A total of 5,554 variant observations were submitted; classification differences were identified and comparison reports were sent to participating laboratories. Each site had the opportunity to reclassify variants. The data were analyzed before and after the comparison report process to track concordant- or discordant-variant classifications by three different models.ResultsVariant-discordance rates varied by classification model: 38.9% of variants were discordant when using a five-tier model, 26.7% with a three-tier model, and 5.0% with a two-tier model. After the comparison report process, the proportion of discordant variants dropped to 30.7% with the five-tier model, to 14.2% with the three-tier model, and to 0.9% using the two-tier model.ConclusionWe present a Canadian interinstitutional quality improvement program for DNA-variant interpretations. Sharing of variant knowledge by clinical diagnostic laboratories will allow clinicians and patients to make more informed decisions and lead to better patient outcomes.
Databáze: OpenAIRE
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