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Difference between revisions of "ClinicalGenomics FHIR IG Proposal"

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(Created page with "{{subst::Template:FHIR IG Proposal}}")
 
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=PutProposedIGNameHere=
 
=PutProposedIGNameHere=
 
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Clinical Genomics Implementation Guide
 
<!-- Resource names should meet the following characteristics:
 
<!-- Resource names should meet the following characteristics:
 
* Title Case
 
* Title Case
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<!-- The name of the committee that is proposed to have responsibility for developing and maintaining the IG. -->
 
<!-- The name of the committee that is proposed to have responsibility for developing and maintaining the IG. -->
[[YourWorkGroupName]]
+
Clinical Genomics
  
 
==Committee Approval Date:==
 
==Committee Approval Date:==
 
<i>Please enter the date that the committee approved this IGproposal</i>
 
<i>Please enter the date that the committee approved this IGproposal</i>
 
+
(Feb 13, 2014)
 
==Contributing or Reviewing Work Groups==
 
==Contributing or Reviewing Work Groups==
  
 
<!-- Additional work groups that may have an interest in contributing to, or reviewing  the content of the IG (optional) -->
 
<!-- Additional work groups that may have an interest in contributing to, or reviewing  the content of the IG (optional) -->
* Work Group Name
+
* Orders and Observations
* or link
 
* or "None"
 
  
 
==FHIR Development Project Insight ID==
 
==FHIR Development Project Insight ID==
 
+
1217
 
<!-- Please specify the id of your work group’s PSS for doing FHIR work that covers the development and maintenance of this IG.  (If submitted but not yet approved, just write “pending”.) The link to the PSS template can be found here: http://gforge.hl7.org/gf/download/docmanfileversion/6832/9398/HL7FHIR_DSTUballotPSS-20120529.doc -->
 
<!-- Please specify the id of your work group’s PSS for doing FHIR work that covers the development and maintenance of this IG.  (If submitted but not yet approved, just write “pending”.) The link to the PSS template can be found here: http://gforge.hl7.org/gf/download/docmanfileversion/6832/9398/HL7FHIR_DSTUballotPSS-20120529.doc -->
  
 
==Scope of coverage==
 
==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.
  
 
<!-- Define the full scope of coverage for the IG.  The scope must be clearly delineated such that it does not overlap with any other existing or expected HL7 Int'l-maintained IG.  The scope will be used to govern "what is the set of potential applications to consider when evaluating what elements are 'core' – i.e. in the 80%"
 
<!-- Define the full scope of coverage for the IG.  The scope must be clearly delineated such that it does not overlap with any other existing or expected HL7 Int'l-maintained IG.  The scope will be used to govern "what is the set of potential applications to consider when evaluating what elements are 'core' – i.e. in the 80%"
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<!-- Why is this IG necessary? -->
 
<!-- Why is this IG necessary? -->
 +
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==
 
==Content location==
  
 
<!-- What is the path within the HL7 github repository (i.e. https://github.com/HL7/xxx) or what is the Simplifier project name? -->
 
<!-- What is the path within the HL7 github repository (i.e. https://github.com/HL7/xxx) or what is the Simplifier project name? -->
 +
http://build.fhir.org/ig/HL7/genomics-unified/index.html
  
  
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<!--Key resources are justified by CCDA, for resources not deemed "key", what interest is there by implementers in using this particular resource. Provide named implementations if possible - ideally provide multiple independent implementations. -->
 
<!--Key resources are justified by CCDA, for resources not deemed "key", what interest is there by implementers in using this particular resource. Provide named implementations if possible - ideally provide multiple independent implementations. -->
 +
National Marrow Donor Program
 +
Center for International Blood and Marrow Transplant Research
  
 
==Content sources==
 
==Content sources==
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<!-- Provide a listing of the types of scenarios to be represented in the examples produced for this IG.  They should demonstrate the full scope of the IG and allow exercising of the IG's capabilities (all profiles, different types of applications, etc.) -->
 
<!-- Provide a listing of the types of scenarios to be represented in the examples produced for this IG.  They should demonstrate the full scope of the IG and allow exercising of the IG's capabilities (all profiles, different types of applications, etc.) -->
 +
 +
(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==
 
==IG Relationships==
  
 
<!-- Are there any IGs this resource depends on or that depend on this IG? -->
 
<!-- Are there any IGs this resource depends on or that depend on this IG? -->
 +
No
  
 
==Timelines==
 
==Timelines==
 
 
<!-- Indicate the target date for having the IGcomplete from a committee perspective and ready for vetting and voting -->
 
<!-- Indicate the target date for having the IGcomplete from a committee perspective and ready for vetting and voting -->
 +
May 2108 Ballot for R4
 +
Sep 2018 Ballot for R4 after ballot reconciliation
  
 
==When IG Proposal Is Complete==
 
==When IG Proposal Is Complete==

Revision as of 20:33, 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

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