ISO 25720:2009

Overview

ISO 25720:2009 - Genomic Sequence Variation Markup Language (GSVML) defines an interoperable XML-based data exchange format for genomic sequence variation data in human health. The standard targets the representation and interchange of genetic variation annotations - with a primary focus on single nucleotide polymorphisms (SNPs) and short tandem repeat polymorphisms (STRPs) - while allowing expandability to other variation types. ISO 25720:2009 addresses the data exchange format and messaging; database schemas and internal storage models are explicitly outside its scope.

Key topics and requirements

• XML foundation: GSVML is specified using XML, with normative DTD and XML Schema definitions provided as annexes (for machine-readable validation and consistent parsing).
• Scope of biological content: Covers human health–related species (human, cell lines, preclinical animals); non–human species and basic bench research outside scope.
• Variation coverage: All sequence variations are considered; SNPs and STRPs are the core, with annotations for clinical and -omics contexts included.
• Conformance & extensibility: Defines conformance rules for message exchange and is designed to be extensible so implementations can incorporate additional variation types and annotations without changing existing database schemas.
• Clinical focus: Intended primarily for clinical applications (clinical practice, preventive medicine, translational and clinical research, including drug discovery and pharmacogenomics).

Applications

• Standardized exchange of SNP/STRP datasets between laboratories, clinical sites, and research centers.
• Integration of genomic variation data into electronic health records (EHRs) and clinical decision support workflows.
• Interoperable reporting for clinical genomics, pharmacogenomics, and translational research pipelines.
• Data sharing for multicenter clinical studies, variant annotation services, and regulatory submissions where consistent XML encoding is required.
• Enabling downstream analytics, variant interpretation, and cross-database aggregation without forcing changes to local database schemas.

Who should use this standard

• Clinical informaticians and health IT architects implementing genomic data exchange.
• Bioinformaticians and genomic data engineers formatting and validating variation datasets.
• EHR vendors, laboratory information systems (LIS) suppliers, and diagnostic labs exchanging clinical variant data.
• Translational researchers, pharmacogenomics teams, and public-health genomics programs that require interoperable variant messaging.

Related standards

• HL7 (Clinical Genomics use cases and messaging)
• EN 13606 (electronic healthcare record communication)
• DICOM / imaging standards (contextual interoperability)
• Other bio‑markup efforts referenced in the standard: BSML, SBML, Neuro‑ML, dbSNP, JSNP

Keywords: ISO 25720:2009, GSVML, Genomic Sequence Variation Markup Language, SNP, STRP, health informatics, XML, data exchange format, clinical genomics, pharmacogenomics, interoperability.