Kids First FHIR interoperability and Phenopackets extraction

[ShahimEssaid]

This is a Kids First based use case to demonstrate core data interoperability between the evolving Kids First IG and the Core IG being developed during this project. Kids First initially attempted to adopt an existing Phenopackets-based FHIR IG to expose existing data through a FHIR API. This effort led to some difficulty with aligning their data, and the development of a new FHIR IG for Kids First. This use case will analyze the Kids First IG, one of the Kids First datasets being exposed with this IG, along with the existing Phenopackets IG and the Phenopackets native schema, to specify and demonstrate data interoperability for core entities represented by these different models and FHIR IGs. Specifically, the following will be implemented and tested by this use case:

1. We will use the Kids First IG, one of the Kids First datasets exposed with the Kids First IG, and the Phenopackets schema to identify at least 3 core entities that will be modeled in the Core IG.
2. The core entities will be documented and analyzed in the Domain Analysis Document to understand the scope of the FHIR representation in the Core IG.
3. A demonstration FHIR server instance will be stood up and the Core IG will be loaded into this instance for validation of the IG, and for data validation during subsequent interactions.
4. Demonstration of data exchange between the Kids First IG and server and the Core IG and its demonstration server. This could be accomplished with Jupyter notebook examples or other code snippets. This will test and document any issues around FHIR to FHIR interoperability between the two IGs and how to address them going forward.
5. Write POC code to extract Phenopackets instance(s) in the native format by querying Core IG based data to test interoperability between the Core IG and the current Phenopackets schema.

This use case is primarily focused on:

• Technical interoperability
• Data exchange
• The Core IG being the core common denominator/hub for interoperability between the Kids First IG, the existing Phenopackets IG, and the Phenopackets native schema
• Help us establish and test our technical artifacts and workflow for ongoing IG development beyond the period of this project.
• This use case is focused on data representation and message exchange for few core entities. Higher level domain or application specific use cases will build on the development guided by this use case.