BS PD ISO/TS 20428:2017

BS PD ISO/TS 20428:2017 defines the data elements and their necessary metadata to implement a structuredclinical genomic sequencing report and their metadata in electronic health records particularlyfocusing on the genomic data generated by next generation sequencing technology.This document

• 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 (seeClause 6),
• defines the optional data (see Clause 7),
• covers the DNA-level variation from human samples using whole genome sequencing, whole exomesequencing, and targeted sequencing (disease-targeted gene panels) by next generation sequencingtechnologies. Though whole transcriptome sequencing and other technologies are important toprovide better patient care and enable precision medicine, this document only deals with DNA-levelchanges,
• covers mainly clinical applications and clinical research such as clinical trials and translationalresearch which uses clinical data. However, the necessary steps such as de-identification or consentfrom patient should be applied. The basic research and other scientific areas are outside the scopeof this document,
• does not cover the other biological species, i.e. genomes of viruses and microbes, and
• does not cover the Sanger sequencing methods.

Cross References:ISO/TS 27527:2010ISO/TS 22220:2011 Ed 2ISO 11615:2012 ED1