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RS ISO/TS 20428: 2024
Genomics informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records

Abstract

The document defines the data elements and the requisite metadata essential for implementing a structured
clinical genomic sequencing report in electronic health records, particularly focusing on the genomic data
generated by next-generation sequencing technology.
This document:
— defines the composition of a structured clinical sequencing report (see Clause 6);
— defines the required data fields and their metadata for a structured clinical sequencing report (see
Clause 7);
— defines the optional data (see Clause 8);
— covers the DNA-level variation from human samples using whole genome sequencing, whole exome
sequencing, and targeted sequencing (disease-targeted gene panels) by next-generation sequencing
technologies (though whole transcriptome sequencing and other technologies are important to provide
better patient care and enable precision medicine, this document only deals with DNA-level changes);
— covers mainly clinical applications and clinical research such as clinical trials and translational research
which uses clinical data (basic research and other scientific areas are outside the scope of this document);
— does not cover the other biological species, i.e. genomes of viruses and microbes;
— does not cover the Sanger sequencing methods.

General Information

Code	Classification	Theme	Pages	Publisher	Availability
RS ISO/TS 20428: 2024	ADOPTED ISO STANDARDS	Health care technology	37	Second Edition	Available