GenomeX Data Exchange FHIR IG
0.2.0 - draft

GenomeX Data Exchange FHIR IG, published by MITRE. This guide is not an authorized publication; it is the continuous build for version 0.2.0 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/CodeX-HL7-FHIR-Accelerator/GenomeX-DataExchange/ and changes regularly. See the Directory of published versions

Example Observation: HereditaryCancerTestingOverInterNegative

Generated Narrative: Observation HereditaryCancerTestingOverInterNegative

status: Final

category: Laboratory

code: Discrete variation analysis overall interpretation

subject: Jenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))

value: Negative

specimen: Specimen: identifier = http://www.somesystemabc.net/identifiers/specimens#07007253-BLD; status = available; type = Blood specimen (specimen); receivedTime = 2023-07-06 17:06:06+0500

component

code: Conclusion Text

value: Organization HRD Status: NEGATIVE

component

code: Genetic Result: Negative - No Clinically Significant Mutation Identified

value: Note: "CLINICALLY SIGNIFICANT", as defined in this report, is a genetic change that is associated with the potential to alter medical intervention.

component

code: Breast Cancer Risk Assessment Tool (assessment scale)

value: Breast Cancer RiskScore®: Remaining Lifetime Risk 10.9%

component

code: Clinical History Analysis: No additional management guidelines identified based on the clinical history provded

value: Other clinical factors may influence the individualized management. This analysis may be incomplete if details about cancer diagnoses, ages, family relationships or other factors were omitted or ambiguous. If this patient also has a clinically significant mutation, the recommendations based on the clinical history analysis should be considered in light of the possibility that this mutation explains all or some of the cancer history in the family.