ClinicalGenomics FHIR IG Proposal
This page documents a Pending FHIR IG Proposal
Contents
- 1 PutProposedIGNameHere
- 1.1 Owning work group name
- 1.2 Committee Approval Date:
- 1.3 Contributing or Reviewing Work Groups
- 1.4 FHIR Development Project Insight ID
- 1.5 Scope of coverage
- 1.6 IG Purpose
- 1.7 Content location
- 1.8 Proposed IG realm and code
- 1.9 Short Description
- 1.10 Long Description
- 1.11 Involved parties
- 1.12 Expected implementations
- 1.13 Content sources
- 1.14 Example Scenarios
- 1.15 IG Relationships
- 1.16 Timelines
- 1.17 When IG Proposal Is Complete
- 1.18 FMG Notes
PutProposedIGNameHere
Clinical Genomics Implementation Guide
Owning work group name
Clinical Genomics
Committee Approval Date:
Please enter the date that the committee approved this IGproposal (Feb 13, 2014)
Contributing or Reviewing Work Groups
- Orders and Observations
FHIR Development Project Insight ID
1217
Scope of coverage
The Clinical Genomics Implementation Guide will identify and define extensions, profiles, terminologies standards necessary for the reporting of clinical genetic/genomic/biomolecular findings and interpretations related to the domain of clinical genetics/genomics sufficient for precision medicine. This includes items like extensions, profiles, domain specific examples. This work will be defined using the available FHIR tooling and in accordance with documented quality guidelines. This includes, but not limited to, profiles on Observation, DiagnosticReport, ServiceRequest, Specimen, and Sequence.
IG Purpose
Current Clinical Genomics FHIR work includes a number of profiles on Observation, DiagnosticReport, DiagnosticRequest, FamilyMemberHistory that relies on heavy use of extensions. and a Sequence Resource. Refactoring these profiles into a consistent approach emphasizing components in the case of Observation, and separating them from FHIR core spec is simplifies their use and understanding, as well a comforms to FHIR design going forward (reducing the number of Profiles in the core spec).
Content location
http://build.fhir.org/ig/HL7/genomics-unified/index.html
Proposed IG realm and code
Short Description
Long Description
Involved parties
Expected implementations
National Marrow Donor Program Center for International Blood and Marrow Transplant Research
Content sources
Example Scenarios
(these obtained from Implementation Guidance doc) Clinical sequencing - germline Species Identification Cancer Profiling Public Health Pharmacogenomics Clinical and Research Data Warehouses Newborn screening for genetic disorders Tissue typing by NGS-based genotyping of HLA
IG Relationships
No
Timelines
May 2108 Ballot for R4 Sep 2018 Ballot for R4 after ballot reconciliation
When IG Proposal Is Complete
When you have completed your proposal, please send an email to FMGcontact@HL7.org
