Project Information
Active
25 September, 2025
Project Introduction
Phenomics Exchange (PE)
Phenomics Exchange is a collaboration under the HL7 Vulcan Accelerator to enable the structured, computable exchange of phenotypic information directly from the electronic health record (EHR). By leveraging HL7 FHIR and the GA4GH Phenopacket standard, the project aims to reduce manual curation, improve interoperability, and accelerate research and clinical genomics.
What are Phenopackets?
The GA4GH Phenopacket standard provides a computable format for representing patient phenotypic and clinical information, supporting both research and diagnostic use cases.
A Phenopacket may capture features such as age, sex, observed phenotypes, disease diagnoses, biosamples, and treatments, ranging from simple to comprehensive case records.
Today, phenotype information needed for genomic health is often missing from the EHR in a structured, computable form. Manual processes to extract and share this information are burdensome and not scalable. The Phenomics Exchange project defines FHIR-based methods to exchange phenotypic data, with a focus on:
- Developing a FHIR Implementation Guide for research and diagnostics
- Mapping between Phenopackets and FHIR resources
- Building tools, libraries, and demonstration servers to support adoption
By bridging FHIR and Phenopackets, this project supports automated creation and sharing of computable phenotypic data, directly usable for genomic interpretation, rare disease diagnosis, real-world evidence, and precision medicine research.
Phenomics Exchange (PE)
Project Resources
Confluence
Project workspace with meeting notes, documentation, and collaboration materials.
FHIR IG
The evolving technical specification that defines how FHIR is used for this project.
SharePoint Resources
Central repository for project artifacts, reference materials, and shared files.
Phenomix Exchange
Get Involved
Phenomics Exchange is developed through open collaboration, and your input is critical. Join us to help shape how phenotypic information is captured and exchanged for research and care.
- Participate in upcoming HL7 Connectathons and working group meetings
- Contribute feedback on the Implementation Guide
- Engage with the community through our mailing list and project calls
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Schedule of Activities
