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

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 s