ISO/AWI TS 25725

Design and workflow requirements for in vitro diagnostics NGS based oncology application

Scope

Next-generation sequencing (NGS) refers to a collection of technologies that allow rapid sequencing of large numbers of nucleic acid molecules. This document specifies requirements and gives recommendations for the design and use of NGS-based examinations for major oncology applications, including patient stratification for therapy selection, monitoring and prognostication, as well as cancer screening. This document provides key considerations and quality metrics for the design, development and implementation of NGS examinations such as those used to identify somatic or germline variants, and evaluate Minimal Residual Disease (MRD), Microsatellite Instability (MSI), Homologous Recombination Deficiency (HRD), Tumour Mutational Burden (TMB), DNA fragmentomics, DNA methylation and expression of mRNA, miRNA and other non-coding RNAs. This document covers the entire workflow including specimen collection, sample handling, nucleic acid isolation, library preparation, sequencing, data pre-processing, sequence analysis and examination result reporting. The document provides technical specifications for different types of biomarkers, including epigenetic and genetic, from human specimens such as whole blood, plasma, formalin-fixed paraffin-embedded (FFPE) or fresh-frozen tissue, and bone marrow.
This document is applicable to the developers, manufacturers and end-users of NGS-based tools and oncological examinations including in-vitro diagnostics (IVD) and laboratory developed tests (LDT) performed by medical laboratories, molecular pathology laboratories and molecular genetic laboratories. This document is also applicable to institutions and organisations performing NGS-based biomedical research and development for oncology applications.
This document is not applicable for in situ sequencing or any non-oncology related sequencing analysis.