Integration of next-generation sequencing in clinical diagnostic molecular pathology laboratories for analysis of solid tumours; an expert opinion on behalf of IQN Path ASBL

The clinical demand for mutation detection within multiple genes from a single tumour sample requires molecular diagnostic laboratories to develop rapid, high-throughput, highly sensitive, accurate and parallel testing within tight budget constraints. To meet this demand, many laboratories employ ne...

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Published in:Virchows Archiv : an international journal of pathology 2017-01, Vol.470 (1), p.5-20
Main Authors: Deans, Zandra C, Costa, Jose Luis, Cree, Ian, Dequeker, Els, Edsjö, Anders, Henderson, Shirley, Hummel, Michael, Ligtenberg, Marjolijn JL, Loddo, Marco, Machado, Jose Carlos, Marchetti, Antonio, Marquis, Katherine, Mason, Joanne, Normanno, Nicola, Rouleau, Etienne, Schuuring, Ed, Snelson, Keeda-Marie, Thunnissen, Erik, Tops, Bastiaan, Williams, Gareth, van Krieken, Han, Hall, Jacqueline A
Format: Article
Language:English
Subjects:
Genetic Predisposition to Disease
High-Throughput Nucleotide Sequencing
Humans
International standards
Laboratory tests
Medicine
Medicine & Public Health
Mutation
Mutation - genetics
Neoplasms - diagnosis
Neoplasms - genetics
Pathology
Pathology, Molecular - methods
Review and Perspectives
Review and s
Tumors
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Summary:The clinical demand for mutation detection within multiple genes from a single tumour sample requires molecular diagnostic laboratories to develop rapid, high-throughput, highly sensitive, accurate and parallel testing within tight budget constraints. To meet this demand, many laboratories employ next-generation sequencing (NGS) based on small amplicons. Building on existing publications and general guidance for the clinical use of NGS and learnings from germline testing, the following guidelines establish consensus standards for somatic diagnostic testing, specifically for identifying and reporting mutations in solid tumours. These guidelines cover the testing strategy, implementation of testing within clinical service, sample requirements, data analysis and reporting of results. In conjunction with appropriate staff training and international standards for laboratory testing, these consensus standards for the use of NGS in molecular pathology of solid tumours will assist laboratories in implementing NGS in clinical services.
ISSN:0945-6317
1432-2307
1432-2307
DOI:10.1007/s00428-016-2025-7