ISO/TS 20428:2024

Genomics Informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records

Scope

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.