View source for Genomics FHIR Profile Proposal


<div class="messagebox cleanup metadata">
<div style="float: left;">[[Image:OpenHotTopic.GIF|35px| ]]</div>
<div style="background:#F0F0F0">
This page documents a [[:category:Pending FHIR Resource Proposal|Pending]] [[:category:FHIR Resource Proposal|FHIR Resource Proposal]]
</div>
</div>
[[Category:FHIR Resource Proposal]]
[[Category:FHIR Profile Proposal]]
[[Category:Pending FHIR Profile Proposal]]


<!-- For additional guidance on considerations for profile creation, refer to [[FHIR Profile Considerations]] -->


=FHIR Genomics Profile Proposal=

<!-- Profile names should meet the following characteristics:
* 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
-->

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:
* [http://hl7-fhir.github.io/sequence.html Sequence]

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/diagnosticorder-genetics.html Diagnostic Order for Genetics]
* [http://hl7-fhir.github.io/family-member-history-genetics.html Family member history for genetics analysis]
* [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)===

<!--Put a link to the resource/datatype (or group of resources) that will be profiled here.-->

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/diagnosticreport.html DiagnosticReport]
* [http://hl7-fhir.github.io/diagnosticorder.html DiagnosticOrder]
* [http://hl7-fhir.github.io/familymemberhistory.html FamilyMemberHistory]

====Constraints to be Applied====

<!--Describe how the current resource will be constrained.-->

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====

<!--Describe how the current resource will be extended.-->
The following extensions are applied to resources as appropriate:
* Clinical genomics specific extensions for the various FHIR resources.

===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 each resource.
* Query Result Examples for each resource.

===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%"

Scope should consider numerous aspects of breadth of scope, including:
* 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.
-->
* Subject: patient
* Disciplines: Patient Care, Clinical Research, Public Health
* Delivery Environment: Inpatient, Ambulatory, Community, Emergency, etc.

===Realm===
Clinical genomics.

==Ownership==
===Owning committee name===

<!-- The name of the committee that is proposed to have responsibility for developing and maintaining the Profiles. -->
[[Clinical Genomics]]

===Contributing or Reviewing Work Groups===

* None

===Expected implementations===

<!--Key Profiles are justified by CCDA, for Profiles not deemed "key", what interest is there by implementers in using this particular Profile. Provide named implementations if possible - ideally provide multiple independent implementations. -->

===gForge Users===

* Gil Alterovitz
* Gaston Fiore

===FHIR Profile Development Project Insight ID===

1110

==Plans==
===Timelines===

<!-- Indicate the target date for having the Profile complete from a committee perspective and ready for vetting and voting -->
*July 2016

===Balloting Requirements===

*Ballot with next FHIR DSTU or Normative Edition

Desired Ballot Date
*End 2016