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

Zandra C. Deans, Jose Luis Costa, Ian Cree, Els Dequeker, Anders Edsjö, Shirley Henderson, Michael Hummel, Marjolijn JL Ligtenberg, Marco Loddo, Jose Carlos Machado, Antonio Marchetti, Katherine Marquis, Joanne Mason, Nicola Normanno, Etienne Rouleau, Ed Schuuring, Keeda Marie Snelson, Erik Thunnissen, Bastiaan Tops, Gareth WilliamsHan van Krieken, Jacqueline A. Hall, Behalf Of Iqn Path Asbl On Behalf Of Iqn Path Asbl

Research output: Contribution to journalArticle

Abstract

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.

Original languageEnglish
Pages (from-to)1-16
Number of pages16
JournalVirchows Archiv
DOIs
Publication statusPublished - 2017

Keywords

  • Best practice
  • Molecular pathology
  • Next-generation sequencing
  • Quality
  • Solid tumours

ASJC Scopus subject areas

  • Anatomy
  • Pathology and Forensic Medicine

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    Deans, Z. C., Costa, J. L., Cree, I., Dequeker, E., Edsjö, A., Henderson, S., Hummel, M., Ligtenberg, M. JL., Loddo, M., Machado, J. C., Marchetti, A., Marquis, K., Mason, J., Normanno, N., Rouleau, E., Schuuring, E., Snelson, K. M., Thunnissen, E., Tops, B., ... On Behalf Of Iqn Path Asbl, B. O. I. P. A. (2017). 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. Virchows Archiv, 1-16. https://doi.org/10.1007/s00428-016-2025-7