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
This page provides a list of the FHIR artifacts defined as part of this implementation guide.
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 Bundle Profile |
A FHIR bundle resource containing genomic data exchange-scoped FHIR profiles. |
| 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. |
These are example instances that show what data produced and consumed by systems conforming with this implementation guide might look like.
| ct-xG-bundle |
| ct-xT-bundle |