---
type: "resource-definitions"
title: "GenomicStudy Definitions"
resource: "GenomicStudy"
---

# GenomicStudy Definitions

<a id="GenomicStudy"></a>

## GenomicStudy
Genomic Study

**Definition:** A GenomicStudy is a set of analyses performed to analyze and generate genomic data.

**Cardinality:** 0..*

**Mappings:** workflow=Event; w5=clinical.diagnostics


<a id="GenomicStudy.identifier"></a>

## GenomicStudy.identifier
Identifiers for this genomic study

**Definition:** Identifiers for this genomic study.

**Cardinality:** 0..*

**Type:** [Identifier](/Identifier)

**Summary:** true


<a id="GenomicStudy.status"></a>

## GenomicStudy.status
registered | available | cancelled | entered-in-error | unknown

**Definition:** The status of the genomic study.

**Cardinality:** 1..1

**Type:** [code](/code)

**Binding:** required:[genomicstudy-status](/valueset-genomicstudy-status)

**Summary:** true

**Is Modifier:** true (Reason: This element is labeled as a modifier because it is a status element that contains status entered-in-error which means that the resource should not be treated as valid)

**Mappings:** workflow=Event.status; w5=FiveWs.status; v2=Varies by domain; rim=.status


<a id="GenomicStudy.type"></a>

## GenomicStudy.type
The type of the study (e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling)

**Definition:** The type of the study, e.g., Familial variant segregation, Functional variation detection, or Gene expression profiling.

**Cardinality:** 0..*

**Type:** [CodeableConcept](/CodeableConcept)

**Binding:** example:[genomicstudy-type](/valueset-genomicstudy-type)

**Summary:** true


<a id="GenomicStudy.subject"></a>

## GenomicStudy.subject
The primary subject of the genomic study

**Definition:** The primary subject of the genomic study.

**Cardinality:** 1..1

**Type:** Reference([Patient](/Patient), [Group](/Group), [Substance](/Substance), [BiologicallyDerivedProduct](/BiologicallyDerivedProduct), [NutritionProduct](/NutritionProduct))

**Summary:** true


<a id="GenomicStudy.encounter"></a>

## GenomicStudy.encounter
The healthcare event with which this genomics study is associated

**Definition:** The healthcare event with which this genomics study is associated.

**Cardinality:** 0..1

**Type:** Reference([Encounter](/Encounter))

**Summary:** true


<a id="GenomicStudy.startDate"></a>

## GenomicStudy.startDate
When the genomic study was started

**Definition:** When the genomic study was started.

**Cardinality:** 0..1

**Type:** [dateTime](/dateTime)


<a id="GenomicStudy.basedOn"></a>

## GenomicStudy.basedOn
Event resources that the genomic study is based on

**Definition:** Event resources that the genomic study is based on.

**Cardinality:** 0..*

**Type:** Reference([ServiceRequest](/ServiceRequest), [Task](/Task))


<a id="GenomicStudy.referrer"></a>

## GenomicStudy.referrer
Healthcare professional who requested or referred the genomic study

**Definition:** Healthcare professional who requested or referred the genomic study.

**Cardinality:** 0..1

**Type:** Reference([Practitioner](/Practitioner), [PractitionerRole](/PractitionerRole))


<a id="GenomicStudy.interpreter"></a>

## GenomicStudy.interpreter
Healthcare professionals who interpreted the genomic study

**Definition:** Healthcare professionals who interpreted the genomic study.

**Cardinality:** 0..*

**Type:** Reference([Practitioner](/Practitioner), [PractitionerRole](/PractitionerRole))


<a id="GenomicStudy.reason"></a>

## GenomicStudy.reason
Why the genomic study was performed

**Definition:** Why the genomic study was performed.

**Cardinality:** 0..*

**Type:** [CodeableReference](/CodeableReference)


<a id="GenomicStudy.instantiatesCanonical"></a>

## GenomicStudy.instantiatesCanonical
The defined protocol that describes the study

**Definition:** The defined protocol that describes the study.

**Cardinality:** 0..1

**Type:** [canonical](/canonical)


<a id="GenomicStudy.instantiatesUri"></a>

## GenomicStudy.instantiatesUri
The URL pointing to an externally maintained protocol that describes the study

**Definition:** The URL pointing to an externally maintained protocol that describes the study.

**Cardinality:** 0..1

**Type:** [uri](/uri)


<a id="GenomicStudy.note"></a>

## GenomicStudy.note
Comments related to the genomic study

**Definition:** Comments related to the genomic study.

**Cardinality:** 0..*

**Type:** [Annotation](/Annotation)


<a id="GenomicStudy.description"></a>

## GenomicStudy.description
Description of the genomic study

**Definition:** Description of the genomic study.

**Cardinality:** 0..1

**Type:** [markdown](/markdown)


<a id="GenomicStudy.analysis"></a>

## GenomicStudy.analysis
Genomic Analysis Event

**Definition:** The details about a specific analysis that was performed in this GenomicStudy.

**Cardinality:** 0..*

**Type:** [BackboneElement](/BackboneElement)


<a id="GenomicStudy.analysis.identifier"></a>

## GenomicStudy.analysis.identifier
Identifiers for the analysis event

**Definition:** Identifiers for the analysis event.

**Cardinality:** 0..*

**Type:** [Identifier](/Identifier)

**Summary:** true


<a id="GenomicStudy.analysis.methodType"></a>

## GenomicStudy.analysis.methodType
Type of the methods used in the analysis (e.g., FISH, Karyotyping, MSI)

**Definition:** Type of the methods used in the analysis, e.g., Fluorescence in situ hybridization (FISH), Karyotyping, or Microsatellite instability testing (MSI).

**Cardinality:** 0..*

**Type:** [CodeableConcept](/CodeableConcept)

**Binding:** example:[genomicstudy-methodtype](/valueset-genomicstudy-methodtype)

**Summary:** true


<a id="GenomicStudy.analysis.changeType"></a>

## GenomicStudy.analysis.changeType
Type of the genomic changes studied in the analysis (e.g., DNA, RNA, or AA change)

**Definition:** Type of the genomic changes studied in the analysis, e.g., DNA, RNA, or amino acid change.

**Cardinality:** 0..*

**Type:** [CodeableConcept](/CodeableConcept)

**Binding:** example:[genomicstudy-changetype](/valueset-genomicstudy-changetype)


<a id="GenomicStudy.analysis.genomeBuild"></a>

## GenomicStudy.analysis.genomeBuild
Genome build that is used in this analysis

**Definition:** The reference genome build that is used in this analysis.

**Cardinality:** 0..1

**Type:** [CodeableConcept](/CodeableConcept)

**Binding:** extensible:[LL1040-6](/valueset-LL1040-6)


<a id="GenomicStudy.analysis.instantiatesCanonical"></a>

## GenomicStudy.analysis.instantiatesCanonical
The defined protocol that describes the analysis

**Definition:** The defined protocol that describes the analysis.

**Cardinality:** 0..1

**Type:** [canonical](/canonical)


<a id="GenomicStudy.analysis.instantiatesUri"></a>

## GenomicStudy.analysis.instantiatesUri
The URL pointing to an externally maintained protocol that describes the analysis

**Definition:** The URL pointing to an externally maintained protocol that describes the analysis.

**Cardinality:** 0..1

**Type:** [uri](/uri)


<a id="GenomicStudy.analysis.title"></a>

## GenomicStudy.analysis.title
Name of the analysis event (human friendly)

**Definition:** Name of the analysis event (human friendly).

**Cardinality:** 0..1

**Type:** [string](/string)

**Summary:** true


<a id="GenomicStudy.analysis.focus"></a>

## GenomicStudy.analysis.focus
What the genomic analysis is about, when it is not about the subject of record

**Definition:** The focus of a genomic analysis when it is not the patient of record representing something or someone associated with the patient such as a spouse, parent, child, or sibling. For example, in trio testing, the GenomicStudy.subject would be the child (proband) and the GenomicStudy.analysis.focus of a specific analysis would be the parent.

**Comments:** If the focus of the analysis is not known, the value of this field SHALL use the data absent extension.

**Cardinality:** 0..*

**Type:** Reference([Resource](/Resource))

**Summary:** true


<a id="GenomicStudy.analysis.specimen"></a>

## GenomicStudy.analysis.specimen
The specimen used in the analysis event

**Definition:** The specimen used in the analysis event.

**Cardinality:** 0..*

**Type:** Reference([Specimen](/Specimen))

**Summary:** true


<a id="GenomicStudy.analysis.date"></a>

## GenomicStudy.analysis.date
The date of the analysis event

**Definition:** The date of the analysis event.

**Cardinality:** 0..1

**Type:** [dateTime](/dateTime)


<a id="GenomicStudy.analysis.note"></a>

## GenomicStudy.analysis.note
Any notes capture with the analysis event

**Definition:** Any notes capture with the analysis event.

**Cardinality:** 0..*

**Type:** [Annotation](/Annotation)


<a id="GenomicStudy.analysis.protocolPerformed"></a>

## GenomicStudy.analysis.protocolPerformed
The protocol that was performed for the analysis event

**Definition:** The protocol that was performed for the analysis event.

**Cardinality:** 0..1

**Type:** Reference([Procedure](/Procedure), [Task](/Task))


<a id="GenomicStudy.analysis.regionsStudied"></a>

## GenomicStudy.analysis.regionsStudied
The genomic regions to be studied in the analysis (BED file)

**Definition:** The genomic regions to be studied in the analysis (BED file).

**Cardinality:** 0..*

**Type:** Reference([DocumentReference](/DocumentReference), [Observation](/Observation))


<a id="GenomicStudy.analysis.regionsCalled"></a>

## GenomicStudy.analysis.regionsCalled
Genomic regions actually called in the analysis event (BED file)

**Definition:** Genomic regions actually called in the analysis event (BED file).

**Cardinality:** 0..*

**Type:** Reference([DocumentReference](/DocumentReference), [Observation](/Observation))


<a id="GenomicStudy.analysis.input"></a>

## GenomicStudy.analysis.input
Inputs for the analysis event

**Definition:** Inputs for the analysis event.

**Cardinality:** 0..*

**Type:** [BackboneElement](/BackboneElement)


<a id="GenomicStudy.analysis.input.file"></a>

## GenomicStudy.analysis.input.file
File containing input data

**Definition:** File containing input data.

**Cardinality:** 0..1

**Type:** Reference([DocumentReference](/DocumentReference))

**Summary:** true


<a id="GenomicStudy.analysis.input.type"></a>

## GenomicStudy.analysis.input.type
Type of input data (e.g., BAM, CRAM, or FASTA)

**Definition:** Type of input data, e.g., BAM, CRAM, or FASTA.

**Cardinality:** 0..1

**Type:** [CodeableConcept](/CodeableConcept)

**Binding:** example:[genomicstudy-dataformat](/valueset-genomicstudy-dataformat)


<a id="GenomicStudy.analysis.input.generatedBy[x]"></a>

## GenomicStudy.analysis.input.generatedBy[x]
The analysis event or other GenomicStudy that generated this input file

**Definition:** The analysis event or other GenomicStudy that generated this input file.

**Cardinality:** 0..1

**Type:** [Identifier](/Identifier), Reference([GenomicStudy](/GenomicStudy))


<a id="GenomicStudy.analysis.output"></a>

## GenomicStudy.analysis.output
Outputs for the analysis event

**Definition:** Outputs for the analysis event.

**Cardinality:** 0..*

**Type:** [BackboneElement](/BackboneElement)


<a id="GenomicStudy.analysis.output.file"></a>

## GenomicStudy.analysis.output.file
File containing output data

**Definition:** File containing output data.

**Cardinality:** 0..1

**Type:** Reference([DocumentReference](/DocumentReference))

**Summary:** true


<a id="GenomicStudy.analysis.output.type"></a>

## GenomicStudy.analysis.output.type
Type of output data (e.g., VCF, MAF, or BAM)

**Definition:** Type of output data, e.g., VCF, MAF, or BAM.

**Cardinality:** 0..1

**Type:** [CodeableConcept](/CodeableConcept)

**Binding:** example:[genomicstudy-dataformat](/valueset-genomicstudy-dataformat)

**Summary:** true


<a id="GenomicStudy.analysis.performer"></a>

## GenomicStudy.analysis.performer
Performer for the analysis event

**Definition:** Performer for the analysis event.

**Cardinality:** 0..*

**Type:** [BackboneElement](/BackboneElement)


<a id="GenomicStudy.analysis.performer.actor"></a>

## GenomicStudy.analysis.performer.actor
The organization, healthcare professional, or others who participated in performing this analysis

**Definition:** The organization, healthcare professional, or others who participated in performing this analysis.

**Cardinality:** 0..1

**Type:** Reference([Practitioner](/Practitioner), [PractitionerRole](/PractitionerRole), [Organization](/Organization), [Device](/Device))


<a id="GenomicStudy.analysis.performer.role"></a>

## GenomicStudy.analysis.performer.role
Role of the actor for this analysis

**Definition:** Role of the actor for this analysis.

**Cardinality:** 0..1

**Type:** [CodeableConcept](/CodeableConcept)


<a id="GenomicStudy.analysis.device"></a>

## GenomicStudy.analysis.device
Devices used for the analysis (e.g., instruments, software), with settings and parameters

**Definition:** Devices used for the analysis (e.g., instruments, software), with settings and parameters.

**Cardinality:** 0..*

**Type:** [BackboneElement](/BackboneElement)


<a id="GenomicStudy.analysis.device.device"></a>

## GenomicStudy.analysis.device.device
Device used for the analysis

**Definition:** Device used for the analysis.

**Cardinality:** 0..1

**Type:** Reference([Device](/Device))


<a id="GenomicStudy.analysis.device.function"></a>

## GenomicStudy.analysis.device.function
Specific function for the device used for the analysis

**Definition:** Specific function for the device used for the analysis.

**Cardinality:** 0..1

**Type:** [CodeableConcept](/CodeableConcept)