Current Landscape and New Paradigms of Proficiency Testing and External Quality Assessment for Molecular Genetics
Lisa V. Kalman,Ira M. Lubin,Shannon D. Barker,Shannon D. Barker,Desirée du Sart,Rob Elles,Wayne W. Grody,Mario Pazzagli,Sue Richards,Iris Schrijver,Barbara A. Zehnbauer +10 more
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TLDR
The availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States is reviewed to evaluate the successes and demonstrated value and to examine the challenges to the provision of comprehensive PT/ EQA posed by new laboratory practices and methodologies.Abstract:
Context.—Participation in proficiency testing (PT) or external quality assessment (EQA) programs allows the assessment and comparison of test performance among different clinical laboratories and technologies. In addition to the approximately 2300 tests for individual genetic disorders, recent advances in technology have enabled the development of clinical tests that quickly and economically analyze the entire human genome. New PT/EQA approaches are needed to ensure the continued quality of these complex tests. Objectives.—To review the availability and scope of PT/EQA for molecular genetic testing for inherited conditions in Europe, Australasia, and the United States; to evaluate the successes and demonstrated value of available PT/EQA programs; and to examine the challenges to the provision of comprehensive PT/EQA posed by new laboratory practices and methodologies. Data Sources.—The available literature on this topic was reviewed and supplemented with personal experiences of several PT/EQA providers. C...read more
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Guidelines for Validation of Next-Generation Sequencing-Based Oncology Panels: A Joint Consensus Recommendation of the Association for Molecular Pathology and College of American Pathologists.
Lawrence J. Jennings,Maria E. Arcila,Christopher L. Corless,Suzanne Kamel-Reid,Suzanne Kamel-Reid,Ira M. Lubin,John D. Pfeifer,Robyn L. Temple-Smolkin,Karl V. Voelkerding,Karl V. Voelkerding,Marina N. Nikiforova +10 more
TL;DR: The recommendations contained herein are intended to assist clinical laboratories with the validation and ongoing monitoring of NGS testing for detection of somatic variants and to ensure high quality of sequencing results.
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Molecular biomarkers for the evaluation of colorectal cancer: Guideline from The American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and the American Society of Clinical Oncology
Antonia R. Sepulveda,Antonia R. Sepulveda,Stanley R. Hamilton,Carmen J. Allegra,Wayne W. Grody,Allison M. Cushman-Vokoun,William K. Funkhouser,Scott Kopetz,Christopher H. Lieu,Noralane M. Lindor,Bruce D. Minsky,Federico A. Monzon,Daniel J. Sargent,Veena M. Singh,Joseph Willis,Jennifer Clark,Carol Colasacco,R. Bryan Rumble,Robyn Temple-Smolkin,Christina B. Ventura,Jan A. Nowak +20 more
TL;DR: Evidence supports mutational testing for genes in the EGFR signaling pathway, since they provide clinically actionable information as negative predictors of benefit to anti-EGFR monoclonal antibody therapies for targeted therapy of CRC.
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Molecular biomarkers for the evaluation of colorectal cancer: Guideline from the American society for clinical pathology, college of American pathologists, association for molecular pathology, and American society of clinical oncology
Antonia R. Sepulveda,Stanley R. Hamilton,Carmen J. Allegra,Wayne W. Grody,Allison M. Cushman-Vokoun,William K. Funkhouser,Scott Kopetz,Christopher H. Lieu,Noralane M. Lindor,Bruce D. Minsky,Federico A. Monzon,Daniel J. Sargent,Veena M. Singh,Joseph Willis,Jennifer Clark,Carol Colasacco,R. Bryan Rumble,Robyn Temple-Smolkin,Christina B. Ventura,Jan A. Nowak +19 more
TL;DR: Evidence supports mutational testing for EGFR signaling pathway genes, since they provide clinically actionable information as negative predictors of benefit to anti-EGFR monoclonal antibody therapies for targeted therapy of CRC.
Journal ArticleDOI
Molecular Biomarkers for the Evaluation of Colorectal Cancer: Guideline From the American Society for Clinical Pathology, College of American Pathologists, Association for Molecular Pathology, and American Society of Clinical Oncology
Antonia R. Sepulveda,Stanley R. Hamilton,Carmen J. Allegra,Wayne W. Grody,Allison M. Cushman-Vokoun,William K. Funkhouser,Scott Kopetz,Christopher H. Lieu,Noralane M. Lindor,Bruce D. Minsky,Federico A. Monzon,Daniel J. Sargent,Veena M. Singh,Joseph Willis,Jennifer Clark,Carol Colasacco,R. Bryan Rumble,Robyn Temple-Smolkin,Christina B. Ventura,Jan A. Nowak +19 more
TL;DR: Evidence supports mutational testing for EGFR signaling pathway genes, since they provide clinically actionable information as negative predictors of benefit to anti-EGFR monoclonal antibody therapies for targeted therapy of CRC.
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Assuring the Quality of Next-Generation Sequencing in Clinical Microbiology and Public Health Laboratories
TL;DR: This review highlights currently available standards and guidelines for the implementation of NGS in the clinical and public health laboratory setting, and it includes considerations for NGS test validation, quality control procedures, proficiency testing, and reference materials.
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