PD ISO TS 20428-2024 PDF

Full title and description

STB PD ISO TS 20428-2024 — ISO/TS 20428:2024, Genomics Informatics — Data elements and their metadata for describing structured clinical genomic sequence information in electronic health records. This technical specification defines a standardized, structured clinical sequencing report format and the required data elements and metadata to enable consistent capture, exchange and use of DNA‑level clinical genomic sequencing results (NGS) within electronic health records (EHRs).

Abstract

The document specifies the composition of a structured clinical sequencing report, the required data fields and their metadata, and optional data elements for genomic reports derived from next‑generation sequencing (whole genome, whole exome and targeted panels). It focuses on DNA‑level human variation for clinical and clinical‑research applications, excludes microbial/viral genomes and Sanger sequencing, and provides implementation guidance and examples to assist EHR and laboratory integration.

General information

• Status: Published.
• Publication date: 11 June 2024 (Edition 2, 2024‑06).
• Publisher: International Organization for Standardization (ISO), developed under ISO/TC 215 (Health informatics).
• ICS / categories: 35.240.80 (IT applications in health care technology).
• Edition / version: Edition 2 (2024).
• Number of pages: 28.

Scope

Defines the data elements and metadata necessary to represent structured clinical genomic sequencing reports in EHRs for human DNA‑level variation produced by next‑generation sequencing technologies (whole genome, whole exome and targeted panels). The scope is clinical applications and clinical research (including clinical trials and translational research). Exclusions: non‑human genomes (microbial/viral) and Sanger sequencing methods. The specification sets content structure, required and optional fields, and metadata guidance to support interoperability between laboratories, EHRs and downstream clinical systems.

Key topics and requirements

• Structured clinical sequencing report composition (mandatory sections such as summary interpretation, detailed findings, recommendations and provenance metadata).
• Required data fields and metadata (patient/subject identifiers, order and report dates, specimen/biomaterial details, performing laboratory, analysis pipeline, reference genome version and controlled vocabularies for genes/diseases).
• Variant representation and classification (gene symbols, sequence variation notation, pathogenicity/clinical significance and recommendations).
• Optional fields for extended clinical context (family/pedigree data, population frequencies, sequencing/analysis QC metrics, karyotypic sex and links to clinical trials or therapeutic guidance).
• Implementation guidance and example report structure to help integration with EHRs and alignment with existing genomics and health‑informatics frameworks.

Typical use and users

Primary users: clinical genomics laboratories (NGS reporting), EHR vendors and integrators, clinical informaticians, bioinformatics engineers, diagnostic device and software developers, clinical geneticists and molecular pathologists, health‑system IT teams and researchers engaged in translational studies. Typical uses: producing interoperable genomic reports for clinical decision support, integrating genomic results into patient records, enabling data exchange across institutions and supporting regulatory/quality workflows in genomic testing.

Related standards

ISO/TS 20428:2024 is typically implemented alongside other genomics and health‑informatics standards and implementation guides, for example HL7 FHIR genomics implementation guidance, ISO/TS 4425 (MSI reporting) and Omics Markup Language standards (ISO 21393) that address omics data exchange and representation. It updates and replaces the earlier ISO/TS 20428:2017 edition. Implementers commonly map 20428 fields to FHIR resources, GA4GH schemas and other clinical metadata standards to achieve end‑to‑end interoperability.

Keywords

Genomics informatics; structured clinical sequencing report; electronic health records (EHR); next‑generation sequencing (NGS); DNA variation; metadata; variant representation; clinical genomics; interoperability; ISO/TC 215.

FAQ

Q: What is this standard?

A: ISO/TS 20428:2024 is a Technical Specification that defines a standardized set of data elements and metadata for representing structured clinical genomic sequencing reports in electronic health records, enabling consistent capture and exchange of DNA‑level NGS results.

Q: What does it cover?

A: It covers the composition of a structured clinical sequencing report, required and optional data fields and metadata, and implementation examples. It applies to human DNA variation from whole genome, whole exome and targeted NGS panels for clinical and clinical research uses; it excludes non‑human genomes and Sanger sequencing.

Q: Who typically uses it?

A: Clinical sequencing laboratories, EHR vendors and integrators, clinical informaticians, bioinformatics and software developers, clinical geneticists, molecular pathology services, and researchers implementing genomic reporting workflows.

Q: Is it current or superseded?

A: This specification (Edition 2) was published on 11 June 2024 and is the current edition; it supersedes the previous ISO/TS 20428:2017. Users should confirm the current status before adoption in regulated workflows.

Q: Is it part of a series?

A: It is part of the genomics informatics work under ISO/TC 215 and is commonly used with related standards and implementation guides (e.g., HL7 FHIR genomics guidance, ISO 21393 Omics Markup Language and ISO/TS 4425 for MSI reporting) to provide comprehensive genomic data exchange and EHR integration.

Q: What are the key keywords?

A: Genomics informatics, structured clinical sequencing report, EHR, NGS, DNA variation, metadata, variant classification, interoperability, ISO/TS 20428.