Standards Development

Scope

This document specifies requirements and gives recommendations for next generation sequencing (NGS) workflows for in vitro diagnostics and biomedical research. This document covers the pre-examination processes including human DNA (somatic and germline) isolation, sequencing library preparation, sequencing, sequence analysis and reporting of the examined sequences for diagnostic purposes from isolated DNA from, e.g. formalin-fixed and paraffin embedded tissues, fresh frozen tissues, fine needle aspirates (FNA), whole blood, circulating tumour cells (CTCs), exosomes and other extracellular vesicles, circulating cell free DNA from plasma, and DNA from saliva.

NOTE 1 Typical applications include, but are not limited to, NGS for oncology, pharmacogenomics and clinical genetics; approaches include panels (e.g. disease panels, exome panels, target gene panels and in silico panels), exome and whole genome sequencing, as well as certain epigenetic and certain single-cell analyses.

This document addresses in vitro diagnostic examinations including laboratory developed examinations and is applicable to medical laboratories, molecular pathology laboratories and molecular genetic laboratories, in vitro diagnostic developers and manufacturers, biobanks and institutions and organizations performing biomedical research or sequencing services.

This document is not applicable for in situ sequencing, DNA-mediated protein sequencing, forensic sequencing, sequencing of pathogens or microorganisms and microbiome analysis.

NOTE 2 International, national or regional regulations or requirements or multiples of them can also apply to specific topics covered in this document.