GA4GH launches formal endorsement programme for externally developed standards — Mondo Disease Ontology named first recognised resource

7 May 2026

A new policy framework opens the door to cross-community collaboration, while a landmark ontology for rare disease earns the programme’s inaugural recognition.

The Global Alliance for Genomics and Health (GA4GH) has launched a formal programme to recognise and endorse externally developed standards, policies, tools, and best practices that are essential to or aligned with the GA4GH mission. The initiative is accompanied by a new policy document and a public nomination form, and marks a natural next step in how GA4GH relates to the broader genomics and health data standards ecosystem.

The Mondo Disease Ontology, developed and maintained by the Monarch Initiative, a GA4GH Driver Project, has been named the first resource to receive formal recognition under the new programme, housed in the Genomic Knowledge Standards (GKS) Work Stream.

Why an endorsement programme, and why now?

GA4GH has long recognised that no standard exists in isolation. The global genomics and health data ecosystem is built on a dense web of interdependent tools, terminologies, and frameworks developed by diverse organisations across academia, government, and industry. Until now, GA4GH lacked a structured, transparent mechanism for formally acknowledging the external resources on which its own products rely, leaving an important part of the interoperability picture undocumented.

The new policy establishes three tiers of recognition. 

1. Core dependencies are resources technically required for the proper function of one or more GA4GH products. 
2. Complementary and interoperable resources are those that enhance or extend GA4GH products in real-world systems. 
3. Highlighted resources of interest are resources with which GA4GH does not directly interoperate, but considers valuable to the broader community.

Nominations must be supported by an engaged GA4GH contributor — someone with an active role in the community, such as a Driver Project Champion, Work Stream Lead, Executive or Steering Committee member, or GA4GH staff — and submitted via the online form. A public catalogue of all endorsed resources will be made available on the GA4GH website.

A different kind of relationship with external standards

GA4GH has long taken an active role in sustaining the infrastructure on which the genomics community depends. In its early years, the organisation assumed full stewardship of several widely used file formats that had been developed elsewhere: SAM/BAM and VCF/BCF originated within the 1000 Genomes Project analysis group, while CRAM was designed by EMBL-EBI to reduce the disk footprint of alignment data. All are now maintained and expanded by the GA4GH File Formats team. More recently, the BED file format, established at the Genomics Institute of the University of California Santa Cruz during the Human Genome Project, was formally adopted and published as a GA4GH standard in October 2021. 

Whereas transferring ownership allows GA4GH to act as a neutral custodian for resources that have become critical community infrastructure, the endorsement programme offers a lighter-weight alternative: formal recognition for resources that are already well-governed and actively maintained, and whose importance to the GA4GH ecosystem merits formal acknowledgement.

“The goal is to reduce redundancy, promote cross-organisational collaboration, and give implementers clear guidance about which external resources are relevant — and how — to GA4GH products. This programme lets us formally champion the broader ecosystem that our standards depend on,” said Heidi Rehm, Chair of GA4GH and Professor of Pathology at Massachusetts General Hospital and the Broad Institute.

Mondo: a unified language for disease

Created to address the lack of a unified disease terminology that provides precise equivalences between disease concepts, the Mondo Disease Ontology provides a logic-based structure for unifying multiple disease resources. It is a freely available, open terminology that contains over 20,000 disease classes, iteratively developed with contributions from the intended community and under continuous revision. 

Mondo has been at the centre of rare disease data integration in the Monarch Initiative and many other resources, working with rare disease authorities such as the Online Mendelian Inheritance in Man (OMIM), National Organization for Rare Disorders (NORD), Genetic and Rare Disease Information Center (GARD), and Orphanet to create the Mondo Rare Disease Subset. It is widely used across the biomedical research landscape, including by the Clinical Genome Resource (ClinGen, also a GA4GH Driver Project), the Kids First Data Resource Portal and the Human Cell Atlas. 

Mondo’s recognition within GA4GH comes at an opportune moment. The Monarch Initiative is currently engaged with the US Centers for Disease Control and Prevention (CDC) in a collaborative effort supporting Mondo’s potential inclusion in ICD-10-CM, a development that could improve how rare diseases are documented, coded, and ultimately recognised in clinical care, with meaningful consequences for patients navigating diagnosis and access to treatment.

“Mondo was built on the principle that the rare disease community deserves a shared language — one that doesn’t fragment care and research across incompatible terminologies,” said Melissa Haendel, Sarah Graham Kenan Distinguished Professor of Genetics at UNC Chapel Hill and co-founder of the Monarch Initiative. “Being recognised as an endorsed standard by GA4GH reflects years of collaborative work and signals to the broader community that this infrastructure is ready to be built upon.”

An open call for nominations

The endorsement programme is still in its pilot phase, and the processes and workflows will continue to be refined as real-world nominations are received and reviewed. The nomination form is now open, and the GA4GH community is actively encouraged to put forward candidates.

Resources nominated for recognition must be freely available, maintained through an open and transparent process by a recognised and responsibly governed organisation, and consistent with GA4GH foundational principles. Nominations must also be supported by an engaged GA4GH contributor who can serve as an internal champion. Those without an existing GA4GH connection are encouraged to reach out via info@ga4gh.org to be matched with an appropriate contact.