Author:

Keywords:

Science & Technology, Life Sciences & Biomedicine, Pathology, Next-generation sequencing, Best practice, Molecular pathology, Solid tumours, Quality, PRECISION CANCER MEDICINE, NONSMALL CELL LUNG, COLORECTAL-CANCER, EGFR MUTATIONS, STANDARDS, SAMPLES, GENOME, ASSOCIATION, CHALLENGES, GUIDELINES, Expert Testimony, Genetic Predisposition to Disease, High-Throughput Nucleotide Sequencing, Humans, Mutation, Neoplasms, Pathology, Molecular, IQN Path ASBL, 1103 Clinical Sciences, 3202 Clinical sciences

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.