Extensions

(todo LB)

The eMERGE Results FHIR Reports use several FHIR extensions to supplement the resources and profiles specified by the the Genomics Reporting IG (STU1). When an extension was warranted the process was to find an available extension amongst those defined as part of the Genomics Reporting IG (STU1), then to look at other registered extensions available in the FHIR specification and finally to define our own custom extensions. All custom extensions were discussed with the HL7 Clinical Genomics WG as proposed additions to the Genomics Reporting IG (STU1).

The list of extensions below are used throughout this specification are marked with their source or “emerge” if they were custom defined for this specification only. Additionally, each extension references the artifact that it is used by to provide context.

X1. Birth Sex

Name…….: BirthSex
Source…..: US-Core
Used In….: Patient
Description: The birth sex extension is used to provide a specific biological sex for the patient being tested.

X2. Ethnicity

Name…….: Ethnicity
Source…..: US-Core
Used In….: Patient
Description: The ethnicity extension is used to provide a specific set of ethnicities for the patient being tested.

X3. Race

Name…….: Race
Source…..: US-Core
Used In….: Patient
Description: The race extension is used to provide a specific set of races for the patient being tested.

X4. Age

Name…….: Age
Source…..: eMERGE
Used In….: Patient
Description: The age extension is used to provide a specific age in years of the patient at the time of testing.

X5. Summary Interpretation Text

Name…….: SummaryInterpretationText
Source…..: eMERGE
Used In….: DiagnosticReport, Observation
Description: The summary interpretation text extension is used to provide short narrative summary interpretations at the report level and any observation level as needed.

X6. Test Disclaimer

Name…….: TestDisclaimer
Source…..: eMERGE
Used In….: GenomicsReport
Description: The test disclaimer extension is used to return the performing lab’s test disclaimer at the report level.