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Difference between revisions of "ClinicalGenomics FHIR IG Proposal"

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==Timelines==
 
==Timelines==

Revision as of 20:35, 12 February 2018



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, there not any IGs this resource depends on or that depend on this IG

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

FMG Notes