This wiki has undergone a migration to Confluence found Here
<meta name="googlebot" content="noindex">

Difference between revisions of "DiagnosticReportGenetics FHIR Profile Proposal"

From HL7Wiki
Jump to navigation Jump to search
(Created page with "{{subst::Template:FHIR Profile Proposal}}")
 
(migrate to Confluence)
 
(One intermediate revision by one other user not shown)
Line 1: Line 1:
  
 
<div class="messagebox cleanup metadata">
 
<div class="messagebox cleanup metadata">
−
<div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div>
+
Current version: https://confluence.hl7.org/display/FHIR/DiagnosticReportGenetics+FHIR+Profile+Proposal<div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div>
 
<div style="background:#F0F0F0">
 
<div style="background:#F0F0F0">
 
This page documents a [[:category:Pending FHIR Resource Proposal|Pending]] [[:category:FHIR Resource Proposal|FHIR Resource Proposal]]
 
This page documents a [[:category:Pending FHIR Resource Proposal|Pending]] [[:category:FHIR Resource Proposal|FHIR Resource Proposal]]
Line 14: Line 14:
  
  
−
=PutProposedProfileNameHere=
+
=DiagnosticReportGenetics=
  
−
<!-- Profile names should meet the following characteristics:
+
The DiagnosticReportGenetics profile extends the DiagnosticReport resource to enable reporting of structured genetic test results by referring to the ObservationGenetics profile. In addition, the genetics profile denotes condition context for genetic testing, which may influence reported variants and interpretation for large genomic testing panels and provides references to the FamilyMemberHistory resource, the Condition resource.
−
* Lower camel case
 
−
* U.S. English
 
−
* Domain-friendly
 
−
* Short
 
−
* Clear
 
−
* Unique
 
−
* Avoid non-universal abbreviations (e.g. URL would be ok)
 
−
* Be expressed as a noun
 
−
* Be consistent with other similar Profiles
 
−
* Incorporate the name of the Resource being profiled
 
−
-->
 
  
 
==Profile balloting plans==
 
==Profile balloting plans==
  
 +
STU3
  
 
==Profile Details==
 
==Profile Details==
 +
 +
The DiagnosticReportGenetics profile supports reporting of DNA variants at the genomic, cDNA, and protein change level. In addition, a condition context may be provided, as AssessedCondition. For large genomic tests, a condition may be used as an input into the analytic pipeline to aid in the identification of clinically relevant variants related to the test order.
  
 
===Profiled Resource(s)===
 
===Profiled Resource(s)===
  
−
<!--Put a link to the resource/datatype (or group of resources) that will be profiled here.-->
+
*[http://hl7-fhir.github.io/diagnosticreport.html DiagnosticReport]
−
* [[ParentResourceAddress|ResourceName]]
 
  
 
====Constraints to be Applied====
 
====Constraints to be Applied====
  
−
<!--Describe how the current resource will be constrained.-->
+
The following constraints are applied to the DiagnosticReport resource as necessary:
−
* Constraint 1
+
 
−
* Constraint 2
+
*Constrain the cardinality of the data elements within the resource.
 +
*Constrain the mustSupport attribute of the data elements within the resource.
 +
*Define searchParameters as necessary for the resource.
 +
*Constrain vocabularies for the resources as applicable.
  
 
====Extensions to be Applied====
 
====Extensions to be Applied====
  
−
<!--Describe how the current resource will be extended.-->
+
The following extensions are applied to the DiagnosticReport resource as appropriate:
−
* Extension 1
+
 
−
* Extension 2
+
*Clinical genomics specific extensions.
  
 
===Example Scenarios===
 
===Example Scenarios===
  
−
<!-- Provide a listing of the types of scenarios to be represented in the examples produced for this Profile. They should demonstrate the full scope of the Profile and allow exercising of the Profiles capabilities (full element coverage, inclusion & omission of optional elements, repeating and singleton repeating elements, etc.) -->
+
*Query Examples for DiagnosticReport resource.
 +
*Query Result Examples for DiagnosticReport resource.
  
 
===Scope of coverage===
 
===Scope of coverage===
  
−
<!-- Define the full scope of coverage for the Profile.  The scope must be clearly delineated such that it does not overlap with any other existing or expected Profile.  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%"
+
*Subject: patient
−
 
+
*Disciplines: Patient Care, Clinical Research, Public Health
−
Scope should consider numerous aspects of breadth of scope, including:
+
*Delivery Environment: Inpatient, Ambulatory, Community, Emergency, etc.
−
* Subject: Human vs. non-human vs. non-patient (e.g. lab bench medicine)
 
−
* Disciplines: Environmental Health, Palliative, Respiratory, Psychology, Maternity, Clinical Research
 
−
* Delivery environment (Community, Geriatric, Home care, Emergency, Inpatient, Intensive, Neonatal, Pediatric, Primary)
 
−
* Locale: Country, region
 
−
 
 
−
As a rule, Profiles should encompass all of these aspects.
 
−
-->
 
  
 
===Realm===
 
===Realm===
−
Please describe the realm to which this profile applies, or indicate that it is realm neutral.
+
Clinical genomics.
  
 
==Ownership==
 
==Ownership==
 
===Owning committee name===
 
===Owning committee name===
  
−
<!-- The name of the committee that is proposed to have responsibility for developing and maintaining the Profiles. -->
+
[[Clinical Genomics]]
−
[[YourCommitteeName]]
 
  
 
===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 Profile (optional) -->
+
*None
−
* Work Group Name
 
−
* or link
 
−
* or "None"
 
  
 
===Expected implementations===
 
===Expected implementations===
Line 90: Line 74:
 
===gForge Users===
 
===gForge Users===
  
−
<!-- Identify the userids who will require commit access to gForge to maintain the Profile.  (Ensure all users have registered for gForge.) -->
+
*Gil Alterovitz
−
 
+
*Gaston Fiore
  
 
===FHIR Profile Development Project Insight ID===
 
===FHIR Profile Development Project Insight ID===
  
−
<!-- Please specify the id of your work group’s PSS for doing FHIR work.  (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 -->
+
1110
  
 
==Plans==
 
==Plans==
 
===Timelines===
 
===Timelines===
  
−
<!-- Indicate the target date for having the Profile complete from a committee perspective and ready for vetting and voting -->
+
*July 2016
−
*TargetDateForInternalReview
 
  
 
===Balloting Requirements===
 
===Balloting Requirements===
  
−
<!-- Indicate the intended method of balloting by choosing one of the options below, or propose alternative.  If Realm Specific or No Ballot indicate the amount of informal review required by the FHIR community.-->
 
−
 
−
Choose one:
 
 
*Ballot with next FHIR DSTU or Normative Edition
 
*Ballot with next FHIR DSTU or Normative Edition
−
*or Ballot independently as DSTU
 
−
*or Realm specific ballot
 
−
*or No Ballot
 
  
−
<!-- Indicate the desired ballot date.-->
 
 
Desired Ballot Date
 
Desired Ballot Date
−
*PutDesiredBallotDateHere
+
 
 +
*End 2016

Latest revision as of 16:12, 31 October 2019

Current version: https://confluence.hl7.org/display/FHIR/DiagnosticReportGenetics+FHIR+Profile+Proposal
OpenHotTopic.GIF

This page documents a Pending FHIR Resource Proposal



DiagnosticReportGenetics

The DiagnosticReportGenetics profile extends the DiagnosticReport resource to enable reporting of structured genetic test results by referring to the ObservationGenetics profile. In addition, the genetics profile denotes condition context for genetic testing, which may influence reported variants and interpretation for large genomic testing panels and provides references to the FamilyMemberHistory resource, the Condition resource.

Profile balloting plans

STU3

Profile Details

The DiagnosticReportGenetics profile supports reporting of DNA variants at the genomic, cDNA, and protein change level. In addition, a condition context may be provided, as AssessedCondition. For large genomic tests, a condition may be used as an input into the analytic pipeline to aid in the identification of clinically relevant variants related to the test order.

Profiled Resource(s)

Constraints to be Applied

The following constraints are applied to the DiagnosticReport resource as necessary:

  • Constrain the cardinality of the data elements within the resource.
  • Constrain the mustSupport attribute of the data elements within the resource.
  • Define searchParameters as necessary for the resource.
  • Constrain vocabularies for the resources as applicable.

Extensions to be Applied

The following extensions are applied to the DiagnosticReport resource as appropriate:

  • Clinical genomics specific extensions.

Example Scenarios

  • Query Examples for DiagnosticReport resource.
  • Query Result Examples for DiagnosticReport resource.

Scope of coverage

  • Subject: patient
  • Disciplines: Patient Care, Clinical Research, Public Health
  • Delivery Environment: Inpatient, Ambulatory, Community, Emergency, etc.

Realm

Clinical genomics.

Ownership

Owning committee name

Clinical Genomics

Contributing or Reviewing Work Groups

  • None

Expected implementations

gForge Users

  • Gil Alterovitz
  • Gaston Fiore

FHIR Profile Development Project Insight ID

1110

Plans

Timelines

  • July 2016

Balloting Requirements

  • Ballot with next FHIR DSTU or Normative Edition

Desired Ballot Date

  • End 2016
Retrieved from "https://wiki.hl7.org/w/index.php?title=DiagnosticReportGenetics_FHIR_Profile_Proposal&oldid=166901"