Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open G... - PubMed - NCBI
Genet Med. 2017 Jul 20. doi: 10.1038/gim.2017.80. [Epub ahead of print]
Data sharing as a national quality improvement program: reporting on BRCA1 and BRCA2 variant-interpretation comparisons through the Canadian Open Genetics Repository (COGR).
Lebo MS1,2,
Zakoor KR3,
Chun K4,
Speevak MD5,
Waye JS6,
McCready E6,
Parboosingh JS7,
Lamont RE7,
Feilotter H8,
Bosdet I9,
Tucker T9,
Young S9,
Karsan A9,
Charames GS3,10,11,
Agatep R12,
Spriggs EL12,
Chisholm C13,
Vasli N13,
Daoud H13,
Jarinova O13,
Tomaszewski R14,
Hume S14,
Taylor S14,
Akbari MR15,
Lerner-Ellis J3,10,11,16;
Canadian Open Genetics Repository Working Group.
Abstract
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.Genetics in Medicine advance online publication, 20 July 2017; doi:10.1038/gim.2017.80.
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