The Global Alliance for Genomics and Health (GA4GH) (Rehm et al., 2021) is an international standards development organisation that works collaboratively to enable the responsible, voluntary, and secure sharing of human genomic and health-related data.
GA4GH brings together a global community of stakeholders, including researchers, clinicians, ethicists, policymakers, and technical experts to co-develop interoperable technical standards and policy frameworks. These frameworks are designed to facilitate data sharing across countries and systems in ways that are ethically robust and technically sound.
Key challenges being tackled relate to data fragmentation, ethical use, and governance by developing solutions such as APIs, schemas, security models, and data access policies. GA4GH products are intended to be modular and adaptable, enabling real-world implementation across diverse contexts, including research infrastructures, clinical settings, and biobanks.
GA4GH plays a foundational role in enabling federated data sharing, empowering researchers and clinicians to access and use data that remains in local environments but is discoverable and queryable across networks. This is particularly important for advancing precision medicine, rare disease research, and international collaborations.
By promoting data standards and harmonisation, GA4GH lowers the barrier for institutions and nations to participate in genomic data sharing initiatives, and aligns with global best efforts to maximise the societal benefits of genomics.
GA4GH Community
The community is open to anyone to become involved in or provide feedback on standards.
Working groups have varied meeting schedules. Hybrid working meetings, known as ‘Connect’ meetings, are held twice a year. A plenary meeting is held annually which gives a good overview of all the current activities across the organisation. Recordings of these events are put on their YouTube channel.
Highlighted GA4GH Standards
An overview of selected GA4GH data standards can be reviewed below, see GA4GH website for all standards.
- Passports - field guide entry
- Beacon v2 - field guide entry
- Workflow Execution Service (WES) - field guide entry
- Variant Representation (VRS) - field guide entry
- Phenopackets - field guide entry
- Data Use Ontology (DUO) - field guide entry
- htsget - field guide entry
- Data Repository Service (DRS) - field guide entry
Relevant tools and resources
Skip tool table| Tool or resource | Description | Related pages | Registry |
|---|---|---|---|
| Beacon v2 | API framework and data model for cross-cohort searching. | How to add to and edit... Beacon | Standards/Databases Publication |
| Data Repository Service (DRS) | GA4GH standard API for accessing and retrieving data files | ||
| Data Use Ontology (DUO) | GA4GH standard ontology for describing access and use restrictions on datasets | Publication | |
| htsget | GA4GH standard protocol for securely streaming genomic data | Publication | |
| Passports | GA4GH open standard to encode data access permissions of users | Publication | |
| Phenopackets | GA4GH standard for sharing disease and phenotype information that characterizes an individual person, linking that individual to detailed phenotypic descriptions, genetic information, diagnoses, and treatments. | EGA | Publication |
| Variant Representation (VRS) | GA4GH standard for representing genomic variants | Publication | |
| Workflow Execution Service (WES) | GA4GH standard protocol for sending workflows to compute |
Editor
Australian BioCommons / University of Melbourne
Editor
Australian BioCommons / University of Melbourne