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− | <div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div> | + | Current version: https://confluence.hl7.org/display/FHIR/Genomics+FHIR+Profile+Proposal<div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div> |
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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]] | ||
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The Artifacts to be produced as part of this project include: | The Artifacts to be produced as part of this project include: | ||
− | * Define profiles on selected FHIR resources that define additional search criteria for retrieving those resources. | + | |
− | * Create profiles on selected FHIR resources identifying minimum data and corresponding constraints and value sets for query response. | + | *Define profiles on selected FHIR resources that define additional search criteria for retrieving those resources. |
− | * Define a FHIR genomics implementation guide that organizes and provides context for the above artifacts. | + | *Create profiles on selected FHIR resources identifying minimum data and corresponding constraints and value sets for query response. |
+ | *Define a FHIR genomics implementation guide that organizes and provides context for the above artifacts. | ||
==Profile balloting plans== | ==Profile balloting plans== | ||
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The following resource is proposed: | The following resource is proposed: | ||
− | * [http://hl7-fhir.github.io/sequence.html Sequence] | + | |
+ | *[http://hl7-fhir.github.io/sequence.html Sequence] | ||
The following profiles are proposed: | The following profiles are proposed: | ||
− | * [http://hl7-fhir.github.io/observation-genetics.html Observation for Genetics] | + | |
− | * [http://hl7-fhir.github.io/diagnosticreport-genetics.html Diagnostic Report for Genetics] | + | *[http://hl7-fhir.github.io/observation-genetics.html Observation for Genetics] |
− | * [http://hl7-fhir.github.io/diagnosticorder-genetics.html Diagnostic Order for Genetics] | + | *[http://hl7-fhir.github.io/diagnosticreport-genetics.html Diagnostic Report for Genetics] |
− | * [http://hl7-fhir.github.io/family-member-history-genetics.html Family member history for genetics analysis] | + | *[http://hl7-fhir.github.io/diagnosticorder-genetics.html Diagnostic Order for Genetics] |
− | * [http://hl7-fhir.github.io/sequence-consensus-sequence-block.html Profile for Consensus Sequence Block] | + | *[http://hl7-fhir.github.io/family-member-history-genetics.html Family member history for genetics analysis] |
− | * [http://hl7-fhir.github.io/diagnosticreport-hla-results.html Profile for HLA Genotyping Results] | + | *[http://hl7-fhir.github.io/sequence-consensus-sequence-block.html Profile for Consensus Sequence Block] |
+ | *[http://hl7-fhir.github.io/diagnosticreport-hla-results.html Profile for HLA Genotyping Results] | ||
===Profiled Resource(s)=== | ===Profiled Resource(s)=== | ||
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The following FHIR resources are profiled: | The following FHIR resources are profiled: | ||
− | * [http://hl7-fhir.github.io/observation.html Observation] | + | |
− | * [http://hl7-fhir.github.io/sequence.html Sequence] | + | *[http://hl7-fhir.github.io/observation.html Observation] |
− | * [http://hl7-fhir.github.io/diagnosticreport.html DiagnosticReport] | + | *[http://hl7-fhir.github.io/sequence.html Sequence] |
− | * [http://hl7-fhir.github.io/diagnosticorder.html DiagnosticOrder] | + | *[http://hl7-fhir.github.io/diagnosticreport.html DiagnosticReport] |
− | * [http://hl7-fhir.github.io/familymemberhistory.html FamilyMemberHistory] | + | *[http://hl7-fhir.github.io/diagnosticorder.html DiagnosticOrder] |
+ | *[http://hl7-fhir.github.io/familymemberhistory.html FamilyMemberHistory] | ||
====Constraints to be Applied==== | ====Constraints to be Applied==== | ||
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The following constraints are applied to the FHIR resources as necessary: | The following constraints are applied to the FHIR resources as necessary: | ||
− | * Constrain the cardinality of the data elements within the resource. | + | |
− | * Constrain the mustSupport attribute of the data elements within the resource. | + | *Constrain the cardinality of the data elements within the resource. |
− | * Define searchParameters as necessary for the resource. | + | *Constrain the mustSupport attribute of the data elements within the resource. |
− | * Constrain vocabularies for the resources as applicable. | + | *Define searchParameters as necessary for the resource. |
+ | *Constrain vocabularies for the resources as applicable. | ||
====Extensions to be Applied==== | ====Extensions to be Applied==== | ||
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<!--Describe how the current resource will be extended.--> | <!--Describe how the current resource will be extended.--> | ||
The following extensions are applied to resources as appropriate: | The following extensions are applied to resources as appropriate: | ||
− | * Clinical genomics specific extensions for the various FHIR resources. | + | |
+ | *Clinical genomics specific extensions for the various FHIR resources. | ||
===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.) --> | <!-- 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 each resource. | + | *Query Examples for each resource. |
− | * Query Result Examples for each resource. | + | *Query Result Examples for each resource. |
===Scope of coverage=== | ===Scope of coverage=== | ||
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As a rule, Profiles should encompass all of these aspects. | As a rule, Profiles should encompass all of these aspects. | ||
--> | --> | ||
− | * Subject: patient | + | *Subject: patient |
− | * Disciplines: Patient Care, Clinical Research, Public Health | + | *Disciplines: Patient Care, Clinical Research, Public Health |
− | * Delivery Environment: Inpatient, Ambulatory, Community, Emergency, etc. | + | *Delivery Environment: Inpatient, Ambulatory, Community, Emergency, etc. |
===Realm=== | ===Realm=== | ||
Line 113: | Line 119: | ||
===Contributing or Reviewing Work Groups=== | ===Contributing or Reviewing Work Groups=== | ||
− | * None | + | *None |
===Expected implementations=== | ===Expected implementations=== | ||
Line 121: | Line 127: | ||
===gForge Users=== | ===gForge Users=== | ||
− | * Gil Alterovitz | + | *Gil Alterovitz |
− | * Gaston Fiore | + | *Gaston Fiore |
===FHIR Profile Development Project Insight ID=== | ===FHIR Profile Development Project Insight ID=== | ||
Line 139: | Line 145: | ||
Desired Ballot Date | Desired Ballot Date | ||
+ | |||
*End 2016 | *End 2016 |
Latest revision as of 16:16, 31 October 2019
Contents
FHIR Genomics Profile Proposal
This project aims to create Fast Healthcare Interoperability Resources (FHIR) profiles for access to specific genetic information as FHIR resource instances.
The Artifacts to be produced as part of this project include:
- Define profiles on selected FHIR resources that define additional search criteria for retrieving those resources.
- Create profiles on selected FHIR resources identifying minimum data and corresponding constraints and value sets for query response.
- Define a FHIR genomics implementation guide that organizes and provides context for the above artifacts.
Profile balloting plans
STU3
Profile Details
The following resource is proposed:
The following profiles are proposed:
- Observation for Genetics
- Diagnostic Report for Genetics
- Diagnostic Order for Genetics
- Family member history for genetics analysis
- Profile for Consensus Sequence Block
- Profile for HLA Genotyping Results
Profiled Resource(s)
The following FHIR resources are profiled:
Constraints to be Applied
The following constraints are applied to the FHIR resources 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 resources as appropriate:
- Clinical genomics specific extensions for the various FHIR resources.
Example Scenarios
- Query Examples for each resource.
- Query Result Examples for each 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
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