Overview
ISO/TR 25313:2025 - Genomics informatics: Challenges and standardization needs for secondary use of clinical genomics data - is a Technical Report that summarizes the findings of a global, country-based survey on the current state, challenges and standardization needs for secondary use of clinical genomics data. Published by ISO/TC 215 (Health informatics), SC1 Genomics informatics, the report presents survey methodology, participant profiles and consolidated insights into barriers and priorities for reuse of clinical genomics data for research, public health and population-level analysis. The report explicitly excludes primary clinical use and does not prescribe specific data, metadata or policy requirements.
Key topics and technical issues
The report identifies and analyzes recurring technical and governance issues relevant to secondary use of genomics data:
- Data privacy and security - de-identification and encryption practices are discussed as essential safeguards; the report references related ISO definitions and common regulatory regimes (e.g., GDPR, HIPAA).
- Interoperability - heterogeneity of data formats, vocabularies and platforms impedes data integration and cross‑institutional analysis.
- Informed consent and ethics - consent adequacy for downstream secondary use and related social/ethical implications.
- Data quality and standardization - variability in collection, processing and reporting reduces comparability and reuse.
- Regulatory and policy frameworks - need for consistent governance across jurisdictions to balance innovation and oversight.
- Data governance and stewardship - access policies, monitoring and enforcement mechanisms for responsible secondary use.
- Data sharing and collaboration - technical and organizational mechanisms to enable secure, privacy‑preserving sharing.
Methodology notes: the cross‑sectional survey (9 questions) ran Oct–Nov 2023 via Google Forms and gathered responses from 20 participants across six countries (mix of academia, commercial, government and healthcare organizations).
Practical applications - who benefits
ISO/TR 25313:2025 is a resource for stakeholders seeking to align practice and standards around secondary use of clinical genomics data:
- National standards bodies and ISO technical committees (e.g., ISO/TC 215)
- Healthcare providers, genomic laboratories and biobanks planning data reuse
- Clinical informaticians, bioinformaticians and EHR/genomics IT vendors
- Policy makers, regulators and research ethics boards
- Data governance officers and privacy teams in research consortia
Use cases include informing standards development, prioritizing interoperability and consent guidance, and shaping national policies for secure, ethical secondary use.
Related standards and references
- ISO/TC 215 outputs on health informatics and genomics informatics
- Definitions cited: ISO 25237 (de‑identification), ISO 7498‑2 (encryption)
- Regulatory regimes discussed: GDPR, HIPAA
ISO/TR 25313:2025 functions as an evidence‑based starting point to guide international standardization efforts and practical implementation strategies for secondary use of clinical genomics data. Keywords: ISO TR 25313 2025, secondary use clinical genomics data, genomics informatics, data standardization, data governance, interoperability.