Overview
ISO/TS 8392:2023 - "Genomics informatics - Description rules for genomic data for genetic detection products and services" is a technical specification that defines how genomic data used in human genetic detection products and services should be described, formatted and quality-assessed. The standard specifies requirements for category definition, content structure, attribute and description rules for data formats, and compilation rules for data archiving and metadata. It applies to genomic data processing, analysis and quality evaluation/assessment.
Key topics and technical requirements
- Data classification: Differentiates between unstructured and structured genomic data and prescribes distinct description methods for each (data format & archive catalogue for unstructured data; metadata and data element codes for structured data).
- Identifier rules: Requires alphanumeric data identifiers (DI) and version identifiers (VI), typically using a two-level identifier structure to uniquely identify data sets and versions.
- Data format attributes: Defines a set of attributes for data formats (e.g., identifier, name, edition, registration authority, application scope, representation of allowed values) and recommends a logical, unique naming convention for data elements.
- Metadata structure: Specifies metadata element classes and attributes to improve semantic clarity and enable consistent downstream processing.
- Code requirements: Provides rules on code structure, length and format:
- Prefer concise, user-friendly structures that harmonize with existing standards.
- Recommend equal-length codes over variable-length; use numeric, alphabetic or alphanumeric characters.
- Avoid ambiguous characters (e.g., “1” vs “I”); maintain consistent case, font and format.
- Guidance for layered/hierarchical codes and code lists, with examples in annexes.
- Compatibility and data cleaning: Advises processes for mapping and cleaning data when exchanging between differing description rules, including filling missing structured data, resolving logical inconsistencies and semi-automated cleaning.
Practical applications
- Standardizing genomic data representation for genetic testing products, enabling consistent storage, retrieval and exchange.
- Improving data quality and integrity for clinical genomics, bioinformatics pipelines and research databases.
- Facilitating interoperability among laboratories, clinical decision support systems, regulatory submissions and third‑party services.
- Supporting repeatable versioning and provenance for genomic datasets used in diagnostics and precision medicine.
- Enabling reliable archiving and audit trails for genomic data in labs and service providers.
Who should use this standard
- Clinical and research laboratories producing genomic test results
- Bioinformatics teams designing data models and pipelines
- Developers of genomic data management systems and clinical informatics platforms
- Data stewards, registrars and quality managers in genomics services
- Regulatory and compliance personnel evaluating genomic data practices
Related standards and compatibility
ISO/TS 8392:2023 was prepared by ISO/TC 215 (Health informatics, Subcommittee SC 1 Genomics informatics) and emphasizes harmonization with existing description rules. It supports compatibility across data exchange scenarios by prescribing metadata, identifier and code conventions and outlining data-cleaning practices for interoperability.
Keywords: genomics informatics, genomic data description, metadata standards, data identifier, data quality, genetic detection products, ISO/TS 8392:2023, code structure, data format.
