STU3 moves beyond FHIR DSTU2 Standard Genetics profile on Observation allowing increased granularity and less ambiguity by creating a new resource to be called Sequence. This resource will be used to hold clinically relevant sequence data in a manner that is both efficient and versatile integrating new and as yet undefined types of genomic and other -omics data that will soon be commonly entered into health records for clinical use. Sequence will be leveraged by other FHIR resources, including Observation. This is consistent with how all FHIR resources are designed and used.
The September 2014 Informative Ballot (“HL7 Clinical Genomics, Domain Analysis Model: Clinical Sequencing Release 1”) provided guiding use cases, which initially informed development of the initial Standard Genetics profile that is found in FHIR DSTU2. The same use cases also led to a second Project to develop a Sequence resource (“Develop FHIR sequence resource for Clinical Genomics”).
The FHIR guidance documentation continues to develop, but the latest version is available here: