We propose moving a reference implementation of the FHIR Genomics Operations to HL7.org so that it [1] can be fully replicated; [2] can serve as educational/training material; [3] can serve as a starting point for a community open source project.

Ideal timing is after STU2 is published, and in time for use for May 2022 Connectathon.

The server that demonstrates this implementation is here. Components that would be migrated to HL7.org include:

• Genomic data repository: Approximately 300MB of synthetic and/or publicly available anonymized patient-level genetic data, including simple and structural variants, haplotypes, and genotypes.
• Knowledge base: An approximately 100MB snapshot of ClinVar, CIViC, and PharmGKB knowledge.
• Source code: All source code used to implement the operations against the genomic data repository.

In addition, we propose creating an Appendix in the IG that provides additional implementation guidance, exact contents to be determined, but may include, for instance, guidance around the use of the reference implementation.

Governance of the open source repository will need to be determined, and isn't part of this proposal, but may include input from the HL7 CG workgroup and/or the GenomeX Accelerator group.

FHIR-36041 is a parallel proposal for merging FHIR Genomics Operations from Operations branch to Build site.