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10.4 Resource GenomicStudy - Content

Clinical Genomics

Work Group

Maturity Level: 0

Trial Use

Security Category: Patient

Compartments: Patient

A Genomic Study is a set of analysis performed to analyze and generate genomic data.

10.4.1 Scope and Usage

GenomicStudy resource aims at delineating relevant information of a genomic study. A genomic study might comprise one or more analyses, each serving a specific purpose. These analyses may vary in method (e.g., karyotyping, CNV, or SNV detection), performer, software, devices used, or regions targeted.

GenomicStudy describes relevant information including the reasons, purpose, and performers of the study. It also provides technical endpoints to access these data. It could be a logical aggregator for complex genomic analyses.

A genomic study might be based on one or more service requests or care plans. The reasons for performing a genomic study might be driven by specific Conditions or Observations. Although the genomic study subject is the focus of the study, the analysis-level subject could be used to specify other relevant subjects or specimens. For example, trio testing may involve three subjects: the proband, and both parents. The proband would be the subject listed directly under the genomic study, while each of the analyses could represent proband, mother, and father genomic analyses.

In clinical use, the study interpreters use all the results of these various analyses to provide diagnostic and therapeutic insights for the patient. Where performers are listed according to their participation in each genomic analysis. Each analysis may be based on a set of defined protocols that may differ from the performed protocols.

The regionStudied and regionCalled elements can refer to DocumentReference instances carrying BED files. Other types of files used in an analysis can be provided similarly, and listed either as inputs or outputs.

Detailed information about the results of the analyses may be represented by Observations and gathered in a DiagnosticReport. Both resources may refer back to the originating GenomicStudy to allow navigation.

10.4.2 Boundaries and Relationships

A main function of GenomicStudy is to provide additional metadata for one or more clinical genomic analysis pipelines where DiagnosticReport instances are used to track inputs and outputs of those pipelines. Device is used to represent both hardware and software used in the sequencing and in the analyses.

It is intended that this resource be referenced by Observation and DiagnosticReport similarly to how ImagingStudy is currently referenced on those resources. Of note, the results of the study would be captured in Observations and referenced on a DiagnosticReport.

Important contextual references include Patient, Specimen, Encounter, ServiceRequest, Practitioner, and Organization.

Observation or Condition instances may also be referenced from genomic study to designate a given reason for performing the study

GenomicStudy can support the event-definition workflow pattern by referencing PlanDefinition(s) via the instantiatesCanonical relationship when implementers wish to describe more specifics of the pipelines and devices used in the analysis.

10.4.3 References

This resource is referenced by itself.

This resource does not implement any patterns.

Structure

Name	Flags	Card.	Type	Description & Constraints
GenomicStudy	TU		DomainResource	Genomic Study Elements defined in Ancestors: id, meta, implicitRules, language, text, contained, extension, modifierExtension
identifier		0..*	Identifier	Identifiers for this genomic study
status	?!Σ	1..1	CodeableConcept	The status of the genomic study GenomicStudyStatus (Required)
type		0..1	CodeableConcept	The type of the study
subject	Σ	1..1	Reference(Patient)	The primary subject of the genomic study
encounter		0..1	Reference(Encounter)	The healthcare event with which this genomics study is associated
startDate		0..1	dateTime	When the genomic study was started
basedOn		0..*	Reference(ServiceRequest \| Task)	Event resources that the genomic study is based on
referrer		0..1	Reference(Practitioner \| PractitionerRole)	Healthcare professional who requested or referred the genomic study
interpreter		0..*	Reference(Practitioner \| PractitionerRole)	Healthcare professionals who interpreted the genomic study
reason		0..*	CodeableReference(Condition \| Observation)	Why the genomic study was performed
note		0..*	Annotation	Comments related to the genomic study
description		0..1	string	Description of the genomic study
analysis		0..*	BackboneElement	Genomic Analysis Event
identifier		0..*	Identifier	Identifiers for the analysis event
methodType		0..*	CodeableConcept	Type of the methods used in the analysis
changeType		0..*	CodeableConcept	Type of the genomic changes studied in the analysis
genomeBuild		0..1	CodeableConcept	Genome build that is used in this analysis HumanRefSeqNCBIBuildId (Extensible)
instantiatesCanonical		0..1	canonical(PlanDefinition)	The defined protocol that describes the analysis
instantiatesUri		0..1	uri	The URL pointing to an externally maintained protocol that describes the analysis
title		0..1	string	Name of the analysis event (human friendly)
subject		0..1	Reference(Patient)	The subject of the analysis event
specimen		0..1	Reference(Specimen)	The specimen used in the analysis event
date		0..1	dateTime	The date of the analysis event
note		0..*	Annotation	Any notes capture with the analysis event
protocolPerformed		0..1	Reference(Procedure \| Task)	The protocol that was performed for the analysis event
regionsStudied		0..*	Reference(DocumentReference \| Observation)	The genomic regions to be studied in the analysis (BED file)
regionsCalled		0..*	Reference(DocumentReference \| Observation)	Genomic regions actually called in the analysis event (BED file)
input		0..*	BackboneElement	Inputs for the analysis event
file		0..1	Reference(DocumentReference)	File containing input data
type		0..1	CodeableConcept	Type of input data
generatedBy[x]		0..1		The analysis event or other GenomicStudy that generated this input file
generatedByIdentifier			Identifier
generatedByReference			Reference(GenomicStudy)
subject		0..1	Reference(Patient)	The subject of the input data
role		0..1	CodeableConcept	Role of the subject for this input
output		0..*	BackboneElement	Outputs for the analysis event
file		0..1	Reference(DocumentReference)	File containing output data
type		0..1	CodeableConcept	Type of output data
performer		0..*	BackboneElement	Performer for the analysis event
actor		0..1	Reference(Practitioner \| PractitionerRole \| Organization \| Device)	The organization, healthcare professional, or others who participated in performing this analysis
role		0..1	CodeableConcept	Role of the actor for this analysis
device		0..*	BackboneElement	Devices used for the analysis (e.g., instruments, software), with settings and parameters
device		0..1	Reference(Device)	Device used for the analysis
function		0..1	CodeableConcept	Specific function for the device used for the analysis
Documentation for this format

UML Diagram (Legend)

XML Template

<GenomicStudy xmlns="http://hl7.org/fhir"> 
 <!-- from Resource: id, meta, implicitRules, and language -->
 <!-- from DomainResource: text, contained, extension, and modifierExtension -->
 <identifier><!-- 0..* Identifier Identifiers for this genomic study --></identifier>
 <status><!-- 1..1 CodeableConcept The status of the genomic study --></status>
 <type><!-- 0..1 CodeableConcept The type of the study --></type>
 <subject><!-- 1..1 Reference(Patient) The primary subject of the genomic study --></subject>
 <encounter><!-- 0..1 Reference(Encounter) The healthcare event with which this genomics study is associated --></encounter>
 <startDate value="[dateTime]"/><!-- 0..1 When the genomic study was started -->
 <basedOn><!-- 0..* Reference(ServiceRequest|Task) Event resources that the genomic study is based on --></basedOn>
 <referrer><!-- 0..1 Reference(Practitioner|PractitionerRole) Healthcare professional who requested or referred the genomic study --></referrer>
 <interpreter><!-- 0..* Reference(Practitioner|PractitionerRole) Healthcare professionals who interpreted the genomic study --></interpreter>
 <reason><!-- 0..* CodeableReference(Condition|Observation) Why the genomic study was performed --></reason>
 <note><!-- 0..* Annotation Comments related to the genomic study --></note>
 <description value="[string]"/><!-- 0..1 Description of the genomic study -->
 <analysis>  <!-- 0..* Genomic Analysis Event -->
  <identifier><!-- 0..* Identifier Identifiers for the analysis event --></identifier>
  <methodType><!-- 0..* CodeableConcept Type of the methods used in the analysis --></methodType>
  <changeType><!-- 0..* CodeableConcept Type of the genomic changes studied in the analysis --></changeType>
  <genomeBuild><!-- 0..1 CodeableConcept Genome build that is used in this analysis  --></genomeBuild>
  <instantiatesCanonical><!-- 0..1 canonical(PlanDefinition) The defined protocol that describes the analysis --></instantiatesCanonical>
  <instantiatesUri value="[uri]"/><!-- 0..1 The URL pointing to an externally maintained protocol that describes the analysis -->
  <title value="[string]"/><!-- 0..1 Name of the analysis event (human friendly) -->
  <subject><!-- 0..1 Reference(Patient) The subject of the analysis event --></subject>
  <specimen><!-- 0..1 Reference(Specimen) The specimen used in the analysis event --></specimen>
  <date value="[dateTime]"/><!-- 0..1 The date of the analysis event -->
  <note><!-- 0..* Annotation Any notes capture with the analysis event --></note>
  <protocolPerformed><!-- 0..1 Reference(Procedure|Task) The protocol that was performed for the analysis event --></protocolPerformed>
  <regionsStudied><!-- 0..* Reference(DocumentReference|Observation) The genomic regions to be studied in the analysis (BED file) --></regionsStudied>
  <regionsCalled><!-- 0..* Reference(DocumentReference|Observation) Genomic regions actually called in the analysis event (BED file) --></regionsCalled>
  <input>  <!-- 0..* Inputs for the analysis event -->
   <file><!-- 0..1 Reference(DocumentReference) File containing input data --></file>
   <type><!-- 0..1 CodeableConcept Type of input data --></type>
   <generatedBy[x]><!-- 0..1 Identifier|Reference(GenomicStudy) The analysis event or other GenomicStudy that generated this input file --></generatedBy[x]>
   <subject><!-- 0..1 Reference(Patient) The subject of the input data --></subject>
   <role><!-- 0..1 CodeableConcept Role of the subject for this input --></role>
  </input>
  <output>  <!-- 0..* Outputs for the analysis event -->
   <file><!-- 0..1 Reference(DocumentReference) File containing output data --></file>
   <type><!-- 0..1 CodeableConcept Type of output data --></type>
  </output>
  <performer>  <!-- 0..* Performer for the analysis event -->
   <actor><!-- 0..1 Reference(Device|Organization|Practitioner|PractitionerRole) The organization, healthcare professional, or others who participated in performing this analysis --></actor>
   <role><!-- 0..1 CodeableConcept Role of the actor for this analysis --></role>
  </performer>
  <device>  <!-- 0..* Devices used for the analysis (e.g., instruments, software), with settings and parameters -->
   <device><!-- 0..1 Reference(Device) Device used for the analysis --></device>
   <function><!-- 0..1 CodeableConcept Specific function for the device used for the analysis --></function>
  </device>
 </analysis>
</GenomicStudy>

JSON Template

{
  "resourceType" : "GenomicStudy",
  // from Resource: id, meta, implicitRules, and language
  // from DomainResource: text, contained, extension, and modifierExtension
  "identifier" : [{ Identifier }], // Identifiers for this genomic study
  "status" : { CodeableConcept }, // R!  The status of the genomic study
  "type" : { CodeableConcept }, // The type of the study
  "subject" : { Reference(Patient) }, // R!  The primary subject of the genomic study
  "encounter" : { Reference(Encounter) }, // The healthcare event with which this genomics study is associated
  "startDate" : "<dateTime>", // When the genomic study was started
  "basedOn" : [{ Reference(ServiceRequest|Task) }], // Event resources that the genomic study is based on
  "referrer" : { Reference(Practitioner|PractitionerRole) }, // Healthcare professional who requested or referred the genomic study
  "interpreter" : [{ Reference(Practitioner|PractitionerRole) }], // Healthcare professionals who interpreted the genomic study
  "reason" : [{ CodeableReference(Condition|Observation) }], // Why the genomic study was performed
  "note" : [{ Annotation }], // Comments related to the genomic study
  "description" : "<string>", // Description of the genomic study
  "analysis" : [{ // Genomic Analysis Event
    "identifier" : [{ Identifier }], // Identifiers for the analysis event
    "methodType" : [{ CodeableConcept }], // Type of the methods used in the analysis
    "changeType" : [{ CodeableConcept }], // Type of the genomic changes studied in the analysis
    "genomeBuild" : { CodeableConcept }, // Genome build that is used in this analysis 
    "instantiatesCanonical" : { canonical(PlanDefinition) }, // The defined protocol that describes the analysis
    "instantiatesUri" : "<uri>", // The URL pointing to an externally maintained protocol that describes the analysis
    "title" : "<string>", // Name of the analysis event (human friendly)
    "subject" : { Reference(Patient) }, // The subject of the analysis event
    "specimen" : { Reference(Specimen) }, // The specimen used in the analysis event
    "date" : "<dateTime>", // The date of the analysis event
    "note" : [{ Annotation }], // Any notes capture with the analysis event
    "protocolPerformed" : { Reference(Procedure|Task) }, // The protocol that was performed for the analysis event
    "regionsStudied" : [{ Reference(DocumentReference|Observation) }], // The genomic regions to be studied in the analysis (BED file)
    "regionsCalled" : [{ Reference(DocumentReference|Observation) }], // Genomic regions actually called in the analysis event (BED file)
    "input" : [{ // Inputs for the analysis event
      "file" : { Reference(DocumentReference) }, // File containing input data
      "type" : { CodeableConcept }, // Type of input data
      // generatedBy[x]: The analysis event or other GenomicStudy that generated this input file. One of these 2:
      "generatedByIdentifier" : { Identifier },
      "generatedByReference" : { Reference(GenomicStudy) },
      "subject" : { Reference(Patient) }, // The subject of the input data
      "role" : { CodeableConcept } // Role of the subject for this input
    }],
    "output" : [{ // Outputs for the analysis event
      "file" : { Reference(DocumentReference) }, // File containing output data
      "type" : { CodeableConcept } // Type of output data
    }],
    "performer" : [{ // Performer for the analysis event
      "actor" : { Reference(Device|Organization|Practitioner|PractitionerRole) }, // The organization, healthcare professional, or others who participated in performing this analysis
      "role" : { CodeableConcept } // Role of the actor for this analysis
    }],
    "device" : [{ // Devices used for the analysis (e.g., instruments, software), with settings and parameters
      "device" : { Reference(Device) }, // Device used for the analysis
      "function" : { CodeableConcept } // Specific function for the device used for the analysis
    }]
  }]
}

Turtle Template

@prefix fhir: <http://hl7.org/fhir/> .


[ a fhir:GenomicStudy;
  fhir:nodeRole fhir:treeRoot; # if this is the parser root

  # from Resource: .id, .meta, .implicitRules, and .language
  # from DomainResource: .text, .contained, .extension, and .modifierExtension
  fhir:GenomicStudy.identifier [ Identifier ], ... ; # 0..* Identifiers for this genomic study
  fhir:GenomicStudy.status [ CodeableConcept ]; # 1..1 The status of the genomic study
  fhir:GenomicStudy.type [ CodeableConcept ]; # 0..1 The type of the study
  fhir:GenomicStudy.subject [ Reference(Patient) ]; # 1..1 The primary subject of the genomic study
  fhir:GenomicStudy.encounter [ Reference(Encounter) ]; # 0..1 The healthcare event with which this genomics study is associated
  fhir:GenomicStudy.startDate [ dateTime ]; # 0..1 When the genomic study was started
  fhir:GenomicStudy.basedOn [ Reference(ServiceRequest|Task) ], ... ; # 0..* Event resources that the genomic study is based on
  fhir:GenomicStudy.referrer [ Reference(Practitioner|PractitionerRole) ]; # 0..1 Healthcare professional who requested or referred the genomic study
  fhir:GenomicStudy.interpreter [ Reference(Practitioner|PractitionerRole) ], ... ; # 0..* Healthcare professionals who interpreted the genomic study
  fhir:GenomicStudy.reason [ CodeableReference(Condition|Observation) ], ... ; # 0..* Why the genomic study was performed
  fhir:GenomicStudy.note [ Annotation ], ... ; # 0..* Comments related to the genomic study
  fhir:GenomicStudy.description [ string ]; # 0..1 Description of the genomic study
  fhir:GenomicStudy.analysis [ # 0..* Genomic Analysis Event
    fhir:GenomicStudy.analysis.identifier [ Identifier ], ... ; # 0..* Identifiers for the analysis event
    fhir:GenomicStudy.analysis.methodType [ CodeableConcept ], ... ; # 0..* Type of the methods used in the analysis
    fhir:GenomicStudy.analysis.changeType [ CodeableConcept ], ... ; # 0..* Type of the genomic changes studied in the analysis
    fhir:GenomicStudy.analysis.genomeBuild [ CodeableConcept ]; # 0..1 Genome build that is used in this analysis
    fhir:GenomicStudy.analysis.instantiatesCanonical [ canonical(PlanDefinition) ]; # 0..1 The defined protocol that describes the analysis
    fhir:GenomicStudy.analysis.instantiatesUri [ uri ]; # 0..1 The URL pointing to an externally maintained protocol that describes the analysis
    fhir:GenomicStudy.analysis.title [ string ]; # 0..1 Name of the analysis event (human friendly)
    fhir:GenomicStudy.analysis.subject [ Reference(Patient) ]; # 0..1 The subject of the analysis event
    fhir:GenomicStudy.analysis.specimen [ Reference(Specimen) ]; # 0..1 The specimen used in the analysis event
    fhir:GenomicStudy.analysis.date [ dateTime ]; # 0..1 The date of the analysis event
    fhir:GenomicStudy.analysis.note [ Annotation ], ... ; # 0..* Any notes capture with the analysis event
    fhir:GenomicStudy.analysis.protocolPerformed [ Reference(Procedure|Task) ]; # 0..1 The protocol that was performed for the analysis event
    fhir:GenomicStudy.analysis.regionsStudied [ Reference(DocumentReference|Observation) ], ... ; # 0..* The genomic regions to be studied in the analysis (BED file)
    fhir:GenomicStudy.analysis.regionsCalled [ Reference(DocumentReference|Observation) ], ... ; # 0..* Genomic regions actually called in the analysis event (BED file)
    fhir:GenomicStudy.analysis.input [ # 0..* Inputs for the analysis event
      fhir:GenomicStudy.analysis.input.file [ Reference(DocumentReference) ]; # 0..1 File containing input data
      fhir:GenomicStudy.analysis.input.type [ CodeableConcept ]; # 0..1 Type of input data
      # GenomicStudy.analysis.input.generatedBy[x] : 0..1 The analysis event or other GenomicStudy that generated this input file. One of these 2
        fhir:GenomicStudy.analysis.input.generatedByIdentifier [ Identifier ]
        fhir:GenomicStudy.analysis.input.generatedByReference [ Reference(GenomicStudy) ]
      fhir:GenomicStudy.analysis.input.subject [ Reference(Patient) ]; # 0..1 The subject of the input data
      fhir:GenomicStudy.analysis.input.role [ CodeableConcept ]; # 0..1 Role of the subject for this input
    ], ...;
    fhir:GenomicStudy.analysis.output [ # 0..* Outputs for the analysis event
      fhir:GenomicStudy.analysis.output.file [ Reference(DocumentReference) ]; # 0..1 File containing output data
      fhir:GenomicStudy.analysis.output.type [ CodeableConcept ]; # 0..1 Type of output data
    ], ...;
    fhir:GenomicStudy.analysis.performer [ # 0..* Performer for the analysis event
      fhir:GenomicStudy.analysis.performer.actor [ Reference(Device|Organization|Practitioner|PractitionerRole) ]; # 0..1 The organization, healthcare professional, or others who participated in performing this analysis
      fhir:GenomicStudy.analysis.performer.role [ CodeableConcept ]; # 0..1 Role of the actor for this analysis
    ], ...;
    fhir:GenomicStudy.analysis.device [ # 0..* Devices used for the analysis (e.g., instruments, software), with settings and parameters
      fhir:GenomicStudy.analysis.device.device [ Reference(Device) ]; # 0..1 Device used for the analysis
      fhir:GenomicStudy.analysis.device.function [ CodeableConcept ]; # 0..1 Specific function for the device used for the analysis
    ], ...;
  ], ...;
]

Changes since R3

This resource did not exist in Release 3

This analysis is available as XML or JSON.

Structure

Name	Flags	Card.	Type	Description & Constraints
GenomicStudy	TU		DomainResource	Genomic Study Elements defined in Ancestors: id, meta, implicitRules, language, text, contained, extension, modifierExtension
identifier		0..*	Identifier	Identifiers for this genomic study
status	?!Σ	1..1	CodeableConcept	The status of the genomic study GenomicStudyStatus (Required)
type		0..1	CodeableConcept	The type of the study
subject	Σ	1..1	Reference(Patient)	The primary subject of the genomic study
encounter		0..1	Reference(Encounter)	The healthcare event with which this genomics study is associated
startDate		0..1	dateTime	When the genomic study was started
basedOn		0..*	Reference(ServiceRequest \| Task)	Event resources that the genomic study is based on
referrer		0..1	Reference(Practitioner \| PractitionerRole)	Healthcare professional who requested or referred the genomic study
interpreter		0..*	Reference(Practitioner \| PractitionerRole)	Healthcare professionals who interpreted the genomic study
reason		0..*	CodeableReference(Condition \| Observation)	Why the genomic study was performed
note		0..*	Annotation	Comments related to the genomic study
description		0..1	string	Description of the genomic study
analysis		0..*	BackboneElement	Genomic Analysis Event
identifier		0..*	Identifier	Identifiers for the analysis event
methodType		0..*	CodeableConcept	Type of the methods used in the analysis
changeType		0..*	CodeableConcept	Type of the genomic changes studied in the analysis
genomeBuild		0..1	CodeableConcept	Genome build that is used in this analysis HumanRefSeqNCBIBuildId (Extensible)
instantiatesCanonical		0..1	canonical(PlanDefinition)	The defined protocol that describes the analysis
instantiatesUri		0..1	uri	The URL pointing to an externally maintained protocol that describes the analysis
title		0..1	string	Name of the analysis event (human friendly)
subject		0..1	Reference(Patient)	The subject of the analysis event
specimen		0..1	Reference(Specimen)	The specimen used in the analysis event
date		0..1	dateTime	The date of the analysis event
note		0..*	Annotation	Any notes capture with the analysis event
protocolPerformed		0..1	Reference(Procedure \| Task)	The protocol that was performed for the analysis event
regionsStudied		0..*	Reference(DocumentReference \| Observation)	The genomic regions to be studied in the analysis (BED file)
regionsCalled		0..*	Reference(DocumentReference \| Observation)	Genomic regions actually called in the analysis event (BED file)
input		0..*	BackboneElement	Inputs for the analysis event
file		0..1	Reference(DocumentReference)	File containing input data
type		0..1	CodeableConcept	Type of input data
generatedBy[x]		0..1		The analysis event or other GenomicStudy that generated this input file
generatedByIdentifier			Identifier
generatedByReference			Reference(GenomicStudy)
subject		0..1	Reference(Patient)	The subject of the input data
role		0..1	CodeableConcept	Role of the subject for this input
output		0..*	BackboneElement	Outputs for the analysis event
file		0..1	Reference(DocumentReference)	File containing output data
type		0..1	CodeableConcept	Type of output data
performer		0..*	BackboneElement	Performer for the analysis event
actor		0..1	Reference(Practitioner \| PractitionerRole \| Organization \| Device)	The organization, healthcare professional, or others who participated in performing this analysis
role		0..1	CodeableConcept	Role of the actor for this analysis
device		0..*	BackboneElement	Devices used for the analysis (e.g., instruments, software), with settings and parameters
device		0..1	Reference(Device)	Device used for the analysis
function		0..1	CodeableConcept	Specific function for the device used for the analysis
Documentation for this format

UML Diagram (Legend)

XML Template

<GenomicStudy xmlns="http://hl7.org/fhir"> 
 <!-- from Resource: id, meta, implicitRules, and language -->
 <!-- from DomainResource: text, contained, extension, and modifierExtension -->
 <identifier><!-- 0..* Identifier Identifiers for this genomic study --></identifier>
 <status><!-- 1..1 CodeableConcept The status of the genomic study --></status>
 <type><!-- 0..1 CodeableConcept The type of the study --></type>
 <subject><!-- 1..1 Reference(Patient) The primary subject of the genomic study --></subject>
 <encounter><!-- 0..1 Reference(Encounter) The healthcare event with which this genomics study is associated --></encounter>
 <startDate value="[dateTime]"/><!-- 0..1 When the genomic study was started -->
 <basedOn><!-- 0..* Reference(ServiceRequest|Task) Event resources that the genomic study is based on --></basedOn>
 <referrer><!-- 0..1 Reference(Practitioner|PractitionerRole) Healthcare professional who requested or referred the genomic study --></referrer>
 <interpreter><!-- 0..* Reference(Practitioner|PractitionerRole) Healthcare professionals who interpreted the genomic study --></interpreter>
 <reason><!-- 0..* CodeableReference(Condition|Observation) Why the genomic study was performed --></reason>
 <note><!-- 0..* Annotation Comments related to the genomic study --></note>
 <description value="[string]"/><!-- 0..1 Description of the genomic study -->
 <analysis>  <!-- 0..* Genomic Analysis Event -->
  <identifier><!-- 0..* Identifier Identifiers for the analysis event --></identifier>
  <methodType><!-- 0..* CodeableConcept Type of the methods used in the analysis --></methodType>
  <changeType><!-- 0..* CodeableConcept Type of the genomic changes studied in the analysis --></changeType>
  <genomeBuild><!-- 0..1 CodeableConcept Genome build that is used in this analysis  --></genomeBuild>
  <instantiatesCanonical><!-- 0..1 canonical(PlanDefinition) The defined protocol that describes the analysis --></instantiatesCanonical>
  <instantiatesUri value="[uri]"/><!-- 0..1 The URL pointing to an externally maintained protocol that describes the analysis -->
  <title value="[string]"/><!-- 0..1 Name of the analysis event (human friendly) -->
  <subject><!-- 0..1 Reference(Patient) The subject of the analysis event --></subject>
  <specimen><!-- 0..1 Reference(Specimen) The specimen used in the analysis event --></specimen>
  <date value="[dateTime]"/><!-- 0..1 The date of the analysis event -->
  <note><!-- 0..* Annotation Any notes capture with the analysis event --></note>
  <protocolPerformed><!-- 0..1 Reference(Procedure|Task) The protocol that was performed for the analysis event --></protocolPerformed>
  <regionsStudied><!-- 0..* Reference(DocumentReference|Observation) The genomic regions to be studied in the analysis (BED file) --></regionsStudied>
  <regionsCalled><!-- 0..* Reference(DocumentReference|Observation) Genomic regions actually called in the analysis event (BED file) --></regionsCalled>
  <input>  <!-- 0..* Inputs for the analysis event -->
   <file><!-- 0..1 Reference(DocumentReference) File containing input data --></file>
   <type><!-- 0..1 CodeableConcept Type of input data --></type>
   <generatedBy[x]><!-- 0..1 Identifier|Reference(GenomicStudy) The analysis event or other GenomicStudy that generated this input file --></generatedBy[x]>
   <subject><!-- 0..1 Reference(Patient) The subject of the input data --></subject>
   <role><!-- 0..1 CodeableConcept Role of the subject for this input --></role>
  </input>
  <output>  <!-- 0..* Outputs for the analysis event -->
   <file><!-- 0..1 Reference(DocumentReference) File containing output data --></file>
   <type><!-- 0..1 CodeableConcept Type of output data --></type>
  </output>
  <performer>  <!-- 0..* Performer for the analysis event -->
   <actor><!-- 0..1 Reference(Device|Organization|Practitioner|PractitionerRole) The organization, healthcare professional, or others who participated in performing this analysis --></actor>
   <role><!-- 0..1 CodeableConcept Role of the actor for this analysis --></role>
  </performer>
  <device>  <!-- 0..* Devices used for the analysis (e.g., instruments, software), with settings and parameters -->
   <device><!-- 0..1 Reference(Device) Device used for the analysis --></device>
   <function><!-- 0..1 CodeableConcept Specific function for the device used for the analysis --></function>
  </device>
 </analysis>
</GenomicStudy>

JSON Template

{
  "resourceType" : "GenomicStudy",
  // from Resource: id, meta, implicitRules, and language
  // from DomainResource: text, contained, extension, and modifierExtension
  "identifier" : [{ Identifier }], // Identifiers for this genomic study
  "status" : { CodeableConcept }, // R!  The status of the genomic study
  "type" : { CodeableConcept }, // The type of the study
  "subject" : { Reference(Patient) }, // R!  The primary subject of the genomic study
  "encounter" : { Reference(Encounter) }, // The healthcare event with which this genomics study is associated
  "startDate" : "<dateTime>", // When the genomic study was started
  "basedOn" : [{ Reference(ServiceRequest|Task) }], // Event resources that the genomic study is based on
  "referrer" : { Reference(Practitioner|PractitionerRole) }, // Healthcare professional who requested or referred the genomic study
  "interpreter" : [{ Reference(Practitioner|PractitionerRole) }], // Healthcare professionals who interpreted the genomic study
  "reason" : [{ CodeableReference(Condition|Observation) }], // Why the genomic study was performed
  "note" : [{ Annotation }], // Comments related to the genomic study
  "description" : "<string>", // Description of the genomic study
  "analysis" : [{ // Genomic Analysis Event
    "identifier" : [{ Identifier }], // Identifiers for the analysis event
    "methodType" : [{ CodeableConcept }], // Type of the methods used in the analysis
    "changeType" : [{ CodeableConcept }], // Type of the genomic changes studied in the analysis
    "genomeBuild" : { CodeableConcept }, // Genome build that is used in this analysis 
    "instantiatesCanonical" : { canonical(PlanDefinition) }, // The defined protocol that describes the analysis
    "instantiatesUri" : "<uri>", // The URL pointing to an externally maintained protocol that describes the analysis
    "title" : "<string>", // Name of the analysis event (human friendly)
    "subject" : { Reference(Patient) }, // The subject of the analysis event
    "specimen" : { Reference(Specimen) }, // The specimen used in the analysis event
    "date" : "<dateTime>", // The date of the analysis event
    "note" : [{ Annotation }], // Any notes capture with the analysis event
    "protocolPerformed" : { Reference(Procedure|Task) }, // The protocol that was performed for the analysis event
    "regionsStudied" : [{ Reference(DocumentReference|Observation) }], // The genomic regions to be studied in the analysis (BED file)
    "regionsCalled" : [{ Reference(DocumentReference|Observation) }], // Genomic regions actually called in the analysis event (BED file)
    "input" : [{ // Inputs for the analysis event
      "file" : { Reference(DocumentReference) }, // File containing input data
      "type" : { CodeableConcept }, // Type of input data
      // generatedBy[x]: The analysis event or other GenomicStudy that generated this input file. One of these 2:
      "generatedByIdentifier" : { Identifier },
      "generatedByReference" : { Reference(GenomicStudy) },
      "subject" : { Reference(Patient) }, // The subject of the input data
      "role" : { CodeableConcept } // Role of the subject for this input
    }],
    "output" : [{ // Outputs for the analysis event
      "file" : { Reference(DocumentReference) }, // File containing output data
      "type" : { CodeableConcept } // Type of output data
    }],
    "performer" : [{ // Performer for the analysis event
      "actor" : { Reference(Device|Organization|Practitioner|PractitionerRole) }, // The organization, healthcare professional, or others who participated in performing this analysis
      "role" : { CodeableConcept } // Role of the actor for this analysis
    }],
    "device" : [{ // Devices used for the analysis (e.g., instruments, software), with settings and parameters
      "device" : { Reference(Device) }, // Device used for the analysis
      "function" : { CodeableConcept } // Specific function for the device used for the analysis
    }]
  }]
}

Turtle Template

@prefix fhir: <http://hl7.org/fhir/> .


[ a fhir:GenomicStudy;
  fhir:nodeRole fhir:treeRoot; # if this is the parser root

  # from Resource: .id, .meta, .implicitRules, and .language
  # from DomainResource: .text, .contained, .extension, and .modifierExtension
  fhir:GenomicStudy.identifier [ Identifier ], ... ; # 0..* Identifiers for this genomic study
  fhir:GenomicStudy.status [ CodeableConcept ]; # 1..1 The status of the genomic study
  fhir:GenomicStudy.type [ CodeableConcept ]; # 0..1 The type of the study
  fhir:GenomicStudy.subject [ Reference(Patient) ]; # 1..1 The primary subject of the genomic study
  fhir:GenomicStudy.encounter [ Reference(Encounter) ]; # 0..1 The healthcare event with which this genomics study is associated
  fhir:GenomicStudy.startDate [ dateTime ]; # 0..1 When the genomic study was started
  fhir:GenomicStudy.basedOn [ Reference(ServiceRequest|Task) ], ... ; # 0..* Event resources that the genomic study is based on
  fhir:GenomicStudy.referrer [ Reference(Practitioner|PractitionerRole) ]; # 0..1 Healthcare professional who requested or referred the genomic study
  fhir:GenomicStudy.interpreter [ Reference(Practitioner|PractitionerRole) ], ... ; # 0..* Healthcare professionals who interpreted the genomic study
  fhir:GenomicStudy.reason [ CodeableReference(Condition|Observation) ], ... ; # 0..* Why the genomic study was performed
  fhir:GenomicStudy.note [ Annotation ], ... ; # 0..* Comments related to the genomic study
  fhir:GenomicStudy.description [ string ]; # 0..1 Description of the genomic study
  fhir:GenomicStudy.analysis [ # 0..* Genomic Analysis Event
    fhir:GenomicStudy.analysis.identifier [ Identifier ], ... ; # 0..* Identifiers for the analysis event
    fhir:GenomicStudy.analysis.methodType [ CodeableConcept ], ... ; # 0..* Type of the methods used in the analysis
    fhir:GenomicStudy.analysis.changeType [ CodeableConcept ], ... ; # 0..* Type of the genomic changes studied in the analysis
    fhir:GenomicStudy.analysis.genomeBuild [ CodeableConcept ]; # 0..1 Genome build that is used in this analysis
    fhir:GenomicStudy.analysis.instantiatesCanonical [ canonical(PlanDefinition) ]; # 0..1 The defined protocol that describes the analysis
    fhir:GenomicStudy.analysis.instantiatesUri [ uri ]; # 0..1 The URL pointing to an externally maintained protocol that describes the analysis
    fhir:GenomicStudy.analysis.title [ string ]; # 0..1 Name of the analysis event (human friendly)
    fhir:GenomicStudy.analysis.subject [ Reference(Patient) ]; # 0..1 The subject of the analysis event
    fhir:GenomicStudy.analysis.specimen [ Reference(Specimen) ]; # 0..1 The specimen used in the analysis event
    fhir:GenomicStudy.analysis.date [ dateTime ]; # 0..1 The date of the analysis event
    fhir:GenomicStudy.analysis.note [ Annotation ], ... ; # 0..* Any notes capture with the analysis event
    fhir:GenomicStudy.analysis.protocolPerformed [ Reference(Procedure|Task) ]; # 0..1 The protocol that was performed for the analysis event
    fhir:GenomicStudy.analysis.regionsStudied [ Reference(DocumentReference|Observation) ], ... ; # 0..* The genomic regions to be studied in the analysis (BED file)
    fhir:GenomicStudy.analysis.regionsCalled [ Reference(DocumentReference|Observation) ], ... ; # 0..* Genomic regions actually called in the analysis event (BED file)
    fhir:GenomicStudy.analysis.input [ # 0..* Inputs for the analysis event
      fhir:GenomicStudy.analysis.input.file [ Reference(DocumentReference) ]; # 0..1 File containing input data
      fhir:GenomicStudy.analysis.input.type [ CodeableConcept ]; # 0..1 Type of input data
      # GenomicStudy.analysis.input.generatedBy[x] : 0..1 The analysis event or other GenomicStudy that generated this input file. One of these 2
        fhir:GenomicStudy.analysis.input.generatedByIdentifier [ Identifier ]
        fhir:GenomicStudy.analysis.input.generatedByReference [ Reference(GenomicStudy) ]
      fhir:GenomicStudy.analysis.input.subject [ Reference(Patient) ]; # 0..1 The subject of the input data
      fhir:GenomicStudy.analysis.input.role [ CodeableConcept ]; # 0..1 Role of the subject for this input
    ], ...;
    fhir:GenomicStudy.analysis.output [ # 0..* Outputs for the analysis event
      fhir:GenomicStudy.analysis.output.file [ Reference(DocumentReference) ]; # 0..1 File containing output data
      fhir:GenomicStudy.analysis.output.type [ CodeableConcept ]; # 0..1 Type of output data
    ], ...;
    fhir:GenomicStudy.analysis.performer [ # 0..* Performer for the analysis event
      fhir:GenomicStudy.analysis.performer.actor [ Reference(Device|Organization|Practitioner|PractitionerRole) ]; # 0..1 The organization, healthcare professional, or others who participated in performing this analysis
      fhir:GenomicStudy.analysis.performer.role [ CodeableConcept ]; # 0..1 Role of the actor for this analysis
    ], ...;
    fhir:GenomicStudy.analysis.device [ # 0..* Devices used for the analysis (e.g., instruments, software), with settings and parameters
      fhir:GenomicStudy.analysis.device.device [ Reference(Device) ]; # 0..1 Device used for the analysis
      fhir:GenomicStudy.analysis.device.function [ CodeableConcept ]; # 0..1 Specific function for the device used for the analysis
    ], ...;
  ], ...;
]

Changes since Release 3

This resource did not exist in Release 3

This analysis is available as XML or JSON.

See the Profiles & Extensions and the alternate definitions: Master Definition XML + JSON, XML Schema/Schematron + JSON Schema, ShEx (for Turtle) + see the extensions, the spreadsheet version & the dependency analysis

10.4.4.1 Terminology Bindings

Path	Definition	Type	Reference
GenomicStudy.status		Required	GenomicStudyStatus
GenomicStudy.analysis.genomeBuild		Extensible	http://loinc.org/vs/LL1040-6

Path

Definition

Type

Reference

GenomicStudy.status

Required

GenomicStudyStatus

GenomicStudy.analysis.genomeBuild

Extensible

http://loinc.org/vs/LL1040-6

10.4.4.2 Implementation Notes

10.4.4.3 Use Case

10.4.4.3.1 EHR access to genomic studies

10.4.5 Search Parameters

Search parameters for this resource. The common parameters also apply. See Searching for more information about searching in REST, messaging, and services.

Name	Type	Description	Expression	In Common
analysis-patient	reference	Who the analysis is about	GenomicStudy.analysis.subject.where(resolve() is Patient) (Patient)
analysis-subject	reference	Who the analysis is about	GenomicStudy.analysis.subject (Patient)
identifier	token	Identifiers for the Study	GenomicStudy.identifier
patient	reference	Who the study is about	GenomicStudy.subject.where(resolve() is Patient) (Patient)
status	token	The status of the study	GenomicStudy.status
subject	reference	Who the study is about	GenomicStudy.subject (Patient)