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

Artifacts Summary

This page provides a list of the FHIR artifacts defined as part of this implementation guide.

Structures: Resource Profiles

These define constraints on FHIR resources for systems conforming to this implementation guide.

GDX Diagnostic Implication

GenomeX subset of genomic diagnostic implication profile.

GDX Lab Organization

Genomic reference lab metadata found in a report.

GDX Patient

The person who is the subject of the genetic/genomic report.

GDX Specimen

GenomeX subset from specimen resource.

GDX Therapeutic Implication

GenomeX subset of genomic therapeutic implication profile.

GDX Variant

GenomeX subset of variant profile.

Genomic Report Profile

Genomic analysis summary report. The report may include one or more tests, with two distinct test types. The first type is a targeted mutation test, where a specific mutation on a specific gene is tested for. The result is either positive or negative for that mutation. The second type is a more general test for variants. This type of test returns the identity of variants found in a certain region of the genome.

Genomic Service Request

Test ordering information related to the genomics report.