Health informatics Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records

Available format(s)

Hardcopy , PDF , PDF 3 Users , PDF 5 Users , PDF 9 Users

Language(s)

English

Published date

05-12-2017

Publisher

International Organization for Standardization

ISO/TS 20428:2017 defines the data elements and their necessary metadata to implement a structured clinical genomic sequencing report and their metadata in electronic health records particularly focusing on the genomic data generated by next generation sequencing technology.

ISO/TS 20428:2017

- defines the composition of a structured clinical sequencing report (see Clause 5),

- defines the required data fields and their metadata for a structured clinical sequencing report (see Clause 6),

- defines the optional data (see Clause 7),

- 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. However, the necessary steps such as de-identification or consent from patient should be applied. The 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, and

- does not cover the Sanger sequencing methods.

DocumentType	Technical Specification
Pages	33
PublisherName	International Organization for Standardization
Status	Current

Standards	Relationship
IS 17798 : 2022	Identical
NEN NVN ISO/TS 20428 : 2017	Identical
PD ISO/TS 20428:2017	Identical

ISO/TS 27527:2010	Health informatics Provider identification
ISO 11615:2017	Health informatics — Identification of medicinal products — Data elements and structures for the unique identification and exchange of regulated medicinal product information
ISO/TS 22220:2011	Health informatics — Identification of subjects of health care
ISO 8601:2004	Data elements and interchange formats Information interchange Representation of dates and times
ISO 25720:2009	Health informatics — Genomic Sequence Variation Markup Language (GSVML)