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 DiagnosticReport: HereditaryCancerTestingDiagnosticReportNegative

Generated Narrative: DiagnosticReport HereditaryCancerTestingDiagnosticReportNegative

Genetic analysis report (Genetics)

SubjectJenny M (official) Female, DoB: 1988-02-12 ( Patient ID: 7fb905f171204b94b8ee33d33cb624e6 (use: official, ))
When For2023-06-28 06:08:08+0500
Reported2023-05-27 00:00:00-0500
Performer Organization Generic Laboratories, Inc.
Identifier Accession ID/TST-175-442

Report Details

CodeValueFlagsWhen For
Where testing scenarios are intended to assess the presence or absence of a known set of DNA variants (e.g. tumor profiling using genotyping technology), then the Genetic Variant Assessment is used in conjunction with answer list supports structured communication of these findings. Of note, 'No Call' is different from 'Absent', because 'No Call' did not result in the determination of the marker's presents or absents. This may be due to test failure or specimen specific context which renders the test ineffective.Variant Assess: IndeterminateFinal2021-12-03
Discrete variation analysis overall interpretationNegativeFinal