EN ISO 21393:2021 PDF

Overview

EN ISO 21393:2021 - Omics Markup Language (OML) defines a standardized, XML‑based data exchange format for clinical omics data in the health domain. Published by CEN/ISO (Technical Committee ISO/TC 215, Genomics informatics), OML is designed to enable interoperable exchange of omics information worldwide without requiring changes to existing database schemas. The standard focuses on data formatting and message specification rather than on database schema design or low‑level molecular sequence detail.

Key topics and technical requirements

• XML foundation: OML specifies an XML‑based data exchange format and provides guidance for DTDs and XML Schema (see clauses on OML structure, DTD and XML Schema).
• Specification scope: Requirements and positioning for OML development, including structure, exchange semantics and an OML development process.
• Modular design: OML acts as a base frame for clinical omics; specific omics categories are implemented as add‑on components (for example, whole genome sequence or sequence variation components are handled by dedicated modules).
• Inclusions and exclusions:
  • Applicable to all kinds of omics (transcriptomics, proteomics, metabolomics, etc.) insofar as they relate to human health and clinical annotations.
  • Excludes detailed molecular content (e.g., raw whole‑genome sequences or atomic variant representation) and does not mandate changes to database schemas.
  • Applies to human health‑associated species: humans, preclinical animals and cell lines; does not apply to other species.
  • Applies to clinical domains (clinical practice, preventive medicine, translational and clinical research including drug discovery); not intended for basic research outside clinical contexts.
• Reference materials and governance: The standard includes informative annexes and a bibliography, and highlights interoperability with clinical messaging initiatives (referenced collaboration with HL7 Clinical Genomics work).

Applications and who should use it

OML is intended for stakeholders who need to exchange clinical omics data reliably and interoperably:

• Health informaticians and standards architects
• EHR and laboratory information system (LIS) vendors integrating omics data
• Clinical researchers, translational research teams and drug discovery groups handling human omics datasets
• Bioinformatics teams implementing data interchange pipelines for clinical use
• National standards bodies and implementers aligning data exchange across organizations

Practical benefits include improved interoperability, standardized clinical annotations for omics, safer data sharing across institutions, and facilitation of multi‑center clinical and translational studies.

Related standards

• ISO 25720 (Genomic Sequence Variation Markup Language - GSVML) - cited as a complementary ML for sequence variation.
• Other XML‑based bio markup languages referenced in background: BSML, SBML, CellML, NeuroML. These offer context for OML within the broader bioinformatics markup ecosystem.

Keywords: Omics Markup Language, OML, ISO 21393:2021, genomics informatics, XML data exchange, clinical omics data, interoperability, health informatics.