ISO 21393:2021 PDF

Overview

ISO 21393:2021 - Genomics informatics - Omics Markup Language (OML) defines an XML-based data exchange format to support interoperable sharing of clinical omics data across systems and organizations. The standard focuses on enabling global exchange of omics information (transcriptomics, proteomics, metabolomics, signalomics, etc.) without forcing changes to existing database schemas. It is scoped to human health–associated species (humans, preclinical animals, cell lines) and to clinical and translational applications (clinical practice, preventive medicine, translational research, clinical research and drug discovery). ISO 21393 explicitly excludes database schema definitions, detailed molecular sequence content (e.g., full genome sequences or individual sequence variation details), basic research outside clinical contexts, and other biological species.

Key topics and technical requirements

• XML foundation: OML is specified as an XML-based markup language. The standard provides guidelines for OML structure and for formal definitions using DTD and XML Schema.
• Specification requirements & positioning: Guidance on how OML sits within the genomics informatics ecosystem and how to specify exchange documents so they remain compatible with diverse source databases.
• OML structure: High-level framing for a base OML that can be extended with add‑on components for specific omics categories (for example, whole genome sequence or sequence variation as add-ons).
• Development process: Describes the recommended process for creating and maintaining OML specifications and components to ensure consistent evolution and international interoperability.
• Molecular annotations & clinical context: Supports representation of molecular annotations, clinical concerns, and cross-omics relationships relevant to health applications.
• Scope limitations: No database schema enforcement; excludes detailed molecular sequence content and basic research-only scenarios.

Practical applications and who uses it

ISO 21393 is designed for organizations and professionals working to exchange clinical omics data reliably:

• Health informatics teams implementing data exchange between electronic health records (EHRs), clinical genomics platforms, biobanks, and research registries.
• Clinical laboratories and diagnostic vendors standardizing omics result reporting for translational and clinical workflows.
• Pharma and biotech groups integrating multi-omics datasets for drug discovery, pharmacogenomics, and clinical trials.
• Standards bodies and implementers developing add-on modules (e.g., sequence variation or whole-genome components) that align with OML’s XML framework.

Related standards and interoperability

• Complements domain-specific markup languages and standards (e.g., GSVML as a related sequence variation ML) and works in the wider health informatics ecosystem (HL7, ICD coding overlays). ISO 21393 positions OML as a base frame to be extended for specific omics use cases while promoting global data exchange, interoperability, and standardized clinical omics reporting.

Keywords: ISO 21393, Omics Markup Language, OML, genomics informatics, XML, data exchange, clinical omics, interoperability, health informatics, translational research, drug discovery.