This document is an effort to capture an analysis of the domain modeled in the Phenopackets schema, additional use cases and modeling requirements, how to address interoperability with the FHIR standard, and other relevant content. It is one of the artifacts developed as part of an NIH funded project.

In July of 2019 the NIH issued a notice (NOT-OD-19-122) to encourage investigators to explore the current uses of FHIR in research to ultimately improve methods for clinical researchers to use, standardize, and share electronic health data. The Broad Institute as a host institution for the Global Alliance for Genomics and Health (GA4GH) was one of two sites awarded a contract to pursue these goals under NIH/NLM contract #75N97019P00280, in partnership with the Jackson Lab, Oregon Health & Science University, Oregon State University, and Mayo Clinic. The project goals are to:

  1. Coordinate with the appropriate HL7 FHIR work group(s) and develop a FHIR Implementation Guide (IG) based on the data modeled in the GA4GH Phenopackets schema,

  2. Identify sets of translational research partners to demonstrate data exchange using FHIR application programing interfaces (APIs) for selected use cases,

  3. Develop Driver Use Cases to inform IG development and for pilot-testing,

  4. Support pilot-testing,

  5. Compile pilot test results into a report,

  6. Provide feedback to HL7 to revise relevant FHIR resources, profiles, and/or IGs,

  7. Provide feedback to GA4GH on Phenopackets schema and application to use cases, and

  8. Disseminate deliverables and obtain feedback for future development.


This site is in early development. Please do not link to any specific page on this site other than the home page. Otherwise, your links will likely break as the initial content is drafted.