A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute.

Autor:	Leung ML; Departments of Pathology and Pediatrics, The Ohio State University College of Medicine, Columbus, Ohio; The Steve and Cindy Rasmussen Institute for Genomic Medicine, Nationwide Children's Hospital, Columbus, Ohio; Department of Pathology and Laboratory Medicine, Nationwide Children's Hospital, Columbus, Ohio., Ji J; Department of Pathology, Keck School of Medicine, University of Southern California, Los Angeles, California; Center for Personalized Medicine, Department of Pathology and Laboratory Medicine, Children's Hospital Los Angeles, Los Angeles, California., Baker S; Department of Genetics, Perelman School of Medicine, University of Pennsylvania, Philadelphia, Pennsylvania., Buchan JG; Department of Laboratory Medicine and Pathology, University of Washington, Seattle, Washington., Sivakumaran TA; Division of Pathology and Laboratory Medicine, Phoenix Children's Hospital, Phoenix, Arizona., Krock BL; Caris Life Sciences, Phoenix, Arizona., Hutchins R; Booz Allen Hamilton, Atlanta, Georgia., Bayrak-Toydemir P; Department of Pathology, The University of Utah, Salt Lake City, Utah; ARUP Laboratories, Salt Lake City, Utah., Pfeifer J; Department of Pathology and Immunology, Washington University School of Medicine in St. Louis, St. Louis, Missouri., Cremona ML; Regeneron Genetics Center, Regeneron Pharmaceuticals, Tarrytown, New York., Funke B; SEMA4, Branford, Connecticut., Santani AB; Center for Applied Genomics, Children's Hospital of Philadelphia, Pennsylvania; Veritas Genetics, Boston, Massachusetts. Electronic address: asantani@veritasgenetics.com.
Jazyk:	angličtina
Zdroj:	The Journal of molecular diagnostics : JMD [J Mol Diagn] 2022 Feb; Vol. 24 (2), pp. 177-188.
DOI:	10.1016/j.jmoldx.2021.11.004
Abstrakt:	Exome reanalysis is useful for providing molecular diagnoses for previously uninformative samples. However, challenges exist in implementing a practical solution for clinicians and laboratories. This study complements the current literature by providing practical considerations for patient-level and cohort-level reanalyses. The Clinical and Laboratory Standards Institute assembled the Document Development Committee and an interpretation working group that developed the framework for reevaluation of exome-based data. We describe two distinct but complementary approaches toward exome reanalyses: clinician-initiated patient-level reanalysis, and laboratory-initiated cohort-level reanalysis. We highlight the advantages and constraints for both approaches, and provide a high-level conceptual guide for ordering clinicians and laboratories through the critical decision pathways. Because clinical exome sequencing continues to be the standard of care in genetics, exome reanalysis would be critical in increasing the overall diagnostic yield. A systematic guide will facilitate the efficient adoption of reevaluation of exome data for laboratories, health care professionals, genetic counselors, and clinicians. (Copyright © 2022 Association for Molecular Pathology and American Society for Investigative Pathology. Published by Elsevier Inc. All rights reserved.)
Databáze:	MEDLINE
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