Journal article
Multi-Institutional Evaluation of Interrater Agreement of Variant Classification Based on the 2017 Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
The Journal of molecular diagnostics : JMD, Vol.22(2), pp.284-293
02/2020
DOI: 10.1016/j.jmoldx.2019.10.010
PMID: 31837433
Abstract
This multi-institutional study was undertaken to evaluate interrater reliability of the 2017 Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists guidelines for interpretation and reporting of oncology sequence variants and to assess current practices and perceptions surrounding these guidelines. Fifty-one variants were distributed to 20 participants from 10 institutions for classification using the new guidelines. Agreement was assessed using chance-corrected agreement (Cohen κ). κ was 0.35. To evaluate if data sharing could help resolve disagreements, a summary of variant classifications and additional information about each variant were distributed to all participants. κ improved to 0.7 after the original classifications were revised. Participants were invited to take a web-based survey regarding their perceptions of the guidelines. Only 20% (n = 3) of the survey respondents had prior experience with the guidelines in clinical practice. The main perceived barriers to guideline implementation included the complexity of the guidelines, discordance between clinical actionability and pathobiologic relevance, lack of familiarity with the new classifications, and uncertainty when applying criteria to potential germline variants. This study demonstrates noteworthy discordances between pathologists for variant classification in solid tumors when using the 2017 Association for Molecular Pathology/American Society of Clinical Oncology/College of American Pathologists guidelines. These findings highlight potential areas for clarification/refinement before mainstream clinical adoption.
Details
- Title: Subtitle
- Multi-Institutional Evaluation of Interrater Agreement of Variant Classification Based on the 2017 Association for Molecular Pathology, American Society of Clinical Oncology, and College of American Pathologists Standards and Guidelines for the Interpretation and Reporting of Sequence Variants in Cancer
- Creators
- Deepika Sirohi - ARUP LaboratoriesRobert L Schmidt - ARUP LaboratoriesDara L Aisner - University of Colorado DenverAmir Behdad - Northwestern UniversityBryan L Betz - Michigan MedicineNoah Brown - University of Michigan–Ann ArborJoshua F Coleman - ARUP LaboratoriesChristopher L Corless - Oregon Health & Science UniversityGeorgios Deftereos - ARUP LaboratoriesMark D Ewalt - University of Colorado DenverHelen Fernandes - Columbia University Irving Medical CenterSusan J Hsiao - Columbia University Irving Medical CenterMahesh M Mansukhani - Columbia University Irving Medical CenterSarah S Murray - University of California, San DiegoNifang Niu - University of ChicagoLauren L Ritterhouse - University of ChicagoCarlos J Suarez - Stanford UniversityLaura J Tafe - Dartmouth–Hitchcock Medical CenterJohn A Thorson - University of California, San DiegoJeremy P Segal - University of ChicagoLarissa V Furtado - St. Jude Children's Research Hospital
- Resource Type
- Journal article
- Publication Details
- The Journal of molecular diagnostics : JMD, Vol.22(2), pp.284-293
- DOI
- 10.1016/j.jmoldx.2019.10.010
- PMID
- 31837433
- ISSN
- 1525-1578
- eISSN
- 1943-7811
- Language
- English
- Date published
- 02/2020
- Academic Unit
- Stead Family Department of Pediatrics; Medical Genetics and Genomics
- Record Identifier
- 9984701548102771
Metrics
4 Record Views