Implementing Genomic Interoperability Standards for Rare Disease Diagnostics and Population Genomics in Tanzania

Embedding interoperability standards into Tanzania’s emerging rare disease ecosystem, beginning with Phenopackets and a pathway toward responsible federated discovery.

Overview

Background Ongoing Work How to participate Get Involved

Background

Tanzania is beginning to develop complementary components of a rare disease ecosystem, including registry and surveillance activities, structured clinical phenotyping, and genomic diagnostic pathways. If these components develop independently, valuable clinical and genomic data may become difficult to connect, discover, or reuse across institutions and internationally. This GIF Project uses this early stage of development as an opportunity to embed interoperability from the outset. Led through the Tanzania Human Genetics Organization (THGO), the project will use real-world rare disease workflows as implementation use cases for GA4GH standards. The initial focus is the GA4GH Phenopacket Schema, using HPO-encoded phenotypes together with relevant clinical and genomic information to create machine-readable case representations. The project will also assess the technical and governance requirements for future Beacon v2-enabled federated discovery and potential participation in Federated Variant-Level Matching (VLM), while keeping access to underlying data locally governed.

Ongoing Work

Months 0–3: map rare disease data workflows, define priority use cases and minimum data requirements, and review governance needs.
Months 3–6: establish a working Phenopackets workflow using synthetic/test cases initially and real, appropriately consented cases as available.
Months 6–12: validate machine-readable phenotype–genotype case representations and assess Beacon v2/VLM technical and governance readiness.
Months 12–18: evaluate implementation, document barriers and adaptations, complete governance mapping, share lessons, and assess expansion to additional Tanzanian datasets and institutions.

How to participate

We welcome collaboration from GA4GH community members and other implementers with practical experience in Phenopackets, Beacon v2, Federated Variant-Level Matching, rare disease data interoperability, and consent/data-use governance. We are particularly interested in implementation guidance, technical review, interoperability testing, and lessons from federated rare disease systems.

References

GA4GH Phenopacket Schema
GA4GH Beacon v2.0
GA4GH Federated Variant-Level Matching (VLM) Project
Human Phenotype Ontology (HPO)

Getting involved with the Implementing Genomic Interoperability Standards for Rare Disease Diagnostics and Population Genomics in Tanzania

Have questions or want to collaborate?

Get in touch