Genomics Study Analysis: Procedure


Inhalt

Dieses Profil beschreibt die Genomics Study Analysis.

Dieses Profil beschreibt die Genomics Study. Da sich der Aufbau, Umfang und Inhalt von genomischen Analysereport von anderen Diagnostischen Reports (Labor, Bildgebung, Pathologie, Mikrobiologie...) deutlich unterscheidet, wurde in FHIR R5 eine GenomicStudyRessource eingeführt, die alle relevanten Datenelemente beinhaltet.

Da viele nationale und internationale Organisationen weiter auf FHIR R4 setzen, gab es einen offiziellen Backport, so dass die Inhalte einer R5 GenomicStudy über eine übergeordnete GenomicStudy-Prozedur und untergeordnete GenomicStudyAnalysis-Prozeduren abgebildet werden können. Die GenomicStudyAnalysis beinhaltet dabei präzise Daten zu eingesetzen Geräten, Methodik, Referenzgenom etc.


Verknüpfungen zu anderen Ressourcen

Die GenomicStudyAnalysis ist über die GenomicStudy mit dem NGS-Befundbericht verknüpft. Die GenomicStudyAnalysis selbst beinhaltet Referenzen auf andere Geräte und Materialien, die in FHIR als Device-Ressource abgebildet werden. Hierfür wurde in der vorliegenden


Zeitliche Zuordnung im Verlauf

NameStatusVersionCanonicalBasis
MII_PR_MTB_Genomic_Study_Analysisdraft2024.0.0-ballothttps://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysishttp://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis

Inhalt

idΣ0..1id
id0..1string
extensionC0..*Extension
versionIdΣ0..1id
lastUpdatedΣ0..1instant
sourceΣ0..1uri
profileS Σ0..*canonical(StructureDefinition)
securityΣ0..*CodingBinding
tagΣ0..*Coding
implicitRulesΣ ?!0..1uri
language0..1codeBinding
text0..1Narrative
contained0..*Resource
id0..1string
extensionC0..0Extension
url1..1uriAuto Value
valueCodeableConceptCodeableConcept
change-typeC0..*Extension(CodeableConcept)
genome-buildS C0..1Extension(CodeableConcept)
genomic-source-classC0..1Extension(CodeableConcept)
titleC0..1Extension(string)
focusS C0..*Extension(Reference(Resource))
specimenS C0..*Extension(Reference(Specimen))
metricsC0..1Extension(Complex)
regionsS C0..1Extension(Complex)
deviceS C0..*Extension(Complex)
protocol-performedC0..1Extension(Reference(Procedure | Task))
inputC0..*Extension(Complex)
outputC0..*Extension(Complex)
qcS C0..1Extension(Complex)
modifierExtension?! C0..*Extension
identifierS Σ0..*Identifier
instantiatesCanonicalΣ0..*canonical(PlanDefinition | ActivityDefinition)
instantiatesUriΣ0..*uri
basedOnΣ0..0Reference(CarePlan | ServiceRequest)
partOfΣ0..0Reference(Procedure | Observation | MedicationAdministration)
statusS Σ ?!1..1codeBindingPattern
statusReasonΣ0..0CodeableConcept
id0..1string
extensionC0..*Extension
codingΣ1..1CodingPattern
textΣ0..1string
codeΣ0..0CodeableConcept
subjectΣ1..1Reference(Patient | Group)
encounterΣ0..0Reference(Encounter)
performedDateTimedateTime
recorderΣ0..0Reference(Patient | RelatedPerson | Practitioner | PractitionerRole)
asserterΣ0..0Reference(Patient | RelatedPerson | Practitioner | PractitionerRole)
id0..1string
extensionC0..*Extension
modifierExtensionΣ ?! C0..*Extension
functionΣ0..1CodeableConcept
actorΣ1..1Reference(Practitioner | PractitionerRole | Organization | Device)
onBehalfOf0..1Reference(Organization)
locationΣ0..0Reference(Location)
reasonCodeΣ0..0CodeableConcept
reasonReferenceΣ0..0Reference(Condition | Observation | Procedure | DiagnosticReport | DocumentReference)
bodySiteΣ0..0CodeableConcept
outcomeΣ0..0CodeableConcept
report0..0Reference(DiagnosticReport | DocumentReference | Composition)
complication0..0CodeableConcept
complicationDetail0..0Reference(Condition)
followUp0..0CodeableConcept
note0..*Annotation
usedReference0..0Reference(Device | Medication | Substance)
usedCode0..0CodeableConcept

Die Genomic Study Analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung.

Feldname
Procedure.meta
Procedure.meta.profile
Procedure.extension
Procedure.extension:method-type
Procedure.extension:genome-build
Procedure.extension:focus
Procedure.extension:specimen
Procedure.extension:regions
Procedure.extension:device
Procedure.extension:qc
Procedure.identifier
Procedure.status
Procedure.category
Procedure.performed[x]
<StructureDefinition xmlns="http://hl7.org/fhir">
<id value="genomic-study-analysis" />
<url value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis" />
<version value="2024.0.0-ballot" />
<name value="MII_PR_MTB_Genomic_Study_Analysis" />
<title value="Genomic Study Analysis" />
<status value="draft" />
<publisher value="Medizininformatik Initiative" />
<system value="url" />
<value value="https://www.medizininformatik-initiative.de" />
</telecom>
</contact>
<description value="Die Genomic Study Analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung." />
<fhirVersion value="4.0.1" />
<kind value="resource" />
<abstract value="false" />
<type value="Procedure" />
<baseDefinition value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis" />
<derivation value="constraint" />
<element id="Procedure.meta">
<path value="Procedure.meta" />
<mustSupport value="true" />
</element>
<element id="Procedure.meta.profile">
<path value="Procedure.meta.profile" />
<mustSupport value="true" />
</element>
<element id="Procedure.extension">
<path value="Procedure.extension" />
<mustSupport value="true" />
</element>
<element id="Procedure.extension:method-type">
<path value="Procedure.extension" />
<sliceName value="method-type" />
<mustSupport value="true" />
</element>
<element id="Procedure.extension:method-type.value[x]">
<path value="Procedure.extension.value[x]" />
<strength value="required" />
<valueSet value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/ValueSet/mii-vs-mtb-genomic-analysis-method-type" />
</binding>
</element>
<element id="Procedure.extension:genome-build">
<path value="Procedure.extension" />
<sliceName value="genome-build" />
<mustSupport value="true" />
</element>
<element id="Procedure.extension:focus">
<path value="Procedure.extension" />
<sliceName value="focus" />
<mustSupport value="true" />
</element>
<element id="Procedure.extension:specimen">
<path value="Procedure.extension" />
<sliceName value="specimen" />
<mustSupport value="true" />
</element>
<element id="Procedure.extension:regions">
<path value="Procedure.extension" />
<sliceName value="regions" />
<mustSupport value="true" />
</element>
<element id="Procedure.extension:device">
<path value="Procedure.extension" />
<sliceName value="device" />
<mustSupport value="true" />
</element>
<element id="Procedure.extension:qc">
<path value="Procedure.extension" />
<sliceName value="qc" />
<min value="0" />
<max value="1" />
<code value="Extension" />
<profile value="https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-genomic-study-analysis-qc" />
</type>
<mustSupport value="true" />
</element>
<element id="Procedure.identifier">
<path value="Procedure.identifier" />
<mustSupport value="true" />
</element>
<element id="Procedure.status">
<path value="Procedure.status" />
<mustSupport value="true" />
</element>
<element id="Procedure.category">
<path value="Procedure.category" />
<mustSupport value="true" />
</element>
<element id="Procedure.performed[x]">
<path value="Procedure.performed[x]" />
<mustSupport value="true" />
</element>
</differential>
</StructureDefinition>
{
"resourceType": "StructureDefinition",
"id": "genomic-study-analysis",
"url": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis",
"version": "2024.0.0-ballot",
"name": "MII_PR_MTB_Genomic_Study_Analysis",
"title": "Genomic Study Analysis",
"status": "draft",
"publisher": "Medizininformatik Initiative",
"contact": [
{
"telecom": [
{
"system": "url",
"value": "https://www.medizininformatik-initiative.de"
}
]
}
],
"description": "Die Genomic Study Analysis beschreibt die Methodik einer bestimmten molekulargenetischen Untersuchung.",
"fhirVersion": "4.0.1",
"kind": "resource",
"abstract": false,
"type": "Procedure",
"baseDefinition": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis",
"derivation": "constraint",
"element": [
{
"id": "Procedure.meta",
"path": "Procedure.meta",
"mustSupport": true
},
{
"id": "Procedure.meta.profile",
"path": "Procedure.meta.profile",
"mustSupport": true
},
{
"id": "Procedure.extension",
"path": "Procedure.extension",
"mustSupport": true
},
{
"id": "Procedure.extension:method-type",
"path": "Procedure.extension",
"sliceName": "method-type",
"mustSupport": true
},
{
"id": "Procedure.extension:method-type.value[x]",
"path": "Procedure.extension.value[x]",
"binding": {
"strength": "required",
"valueSet": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/ValueSet/mii-vs-mtb-genomic-analysis-method-type"
}
},
{
"id": "Procedure.extension:genome-build",
"path": "Procedure.extension",
"sliceName": "genome-build",
"mustSupport": true
},
{
"id": "Procedure.extension:focus",
"path": "Procedure.extension",
"sliceName": "focus",
"mustSupport": true
},
{
"id": "Procedure.extension:specimen",
"path": "Procedure.extension",
"sliceName": "specimen",
"mustSupport": true
},
{
"id": "Procedure.extension:regions",
"path": "Procedure.extension",
"sliceName": "regions",
"mustSupport": true
},
{
"id": "Procedure.extension:device",
"path": "Procedure.extension",
"sliceName": "device",
"mustSupport": true
},
{
"id": "Procedure.extension:qc",
"path": "Procedure.extension",
"sliceName": "qc",
"min": 0,
"max": "1",
"type": [
{
"code": "Extension",
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/mii-ex-mtb-genomic-study-analysis-qc"
]
}
],
"mustSupport": true
},
{
"id": "Procedure.identifier",
"path": "Procedure.identifier",
"mustSupport": true
},
{
"id": "Procedure.status",
"path": "Procedure.status",
"mustSupport": true
},
{
"id": "Procedure.category",
"path": "Procedure.category",
"mustSupport": true
},
{
"id": "Procedure.performed[x]",
"path": "Procedure.performed[x]",
"mustSupport": true
}
]
}
}

Mapping Datensatz zu FHIR

DatensatzErklaerungFHIR
RNA Fusion

RNA Fusion

MII_PR_MTB_RNA_Seq
Varianten ID

Varianten ID

MII_PR_MTB_RNA_Seq.component[variation-code]
Entrez ID

Entrez ID

MII_PR_MTB_RNA_Seq.component[variation-code]
Ensemble ID

Ensemble ID

MII_PR_MTB_RNA_Seq.component[variation-code]
Gen

Gen

MII_PR_MTB_RNA_Seq.component[gene-studied]
Transcript ID

Transcript ID

MII_PR_MTB_RNA_Seq.component[transcript-id]
Transcripts Per Million

Transcripts Per Million

MII_PR_MTB_RNA_Seq.component[transcripts-per-million]
Tissue Corrected Expression

Tissue Corrected Expression

MII_PR_MTB_RNA_Seq.component[tissue-corrected-expression]
Raw counts

Raw counts

MII_PR_MTB_RNA_Seq.component[raw-counts]
Library size

Library size

MII_PR_MTB_RNA_Seq.component[library-size]
Cohort ranking

Cohort ranking

MII_PR_MTB_RNA_Seq.component[cohort-ranking]

Suchparameter

Folgende Suchparameter sind für das Modul Onkologie relevant, auch in Kombination:

  1. Der Suchparameter "_id" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Observation?_id=12345

    Anwendungshinweise: Weitere Informationen zur Suche nach "_id" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".

  2. Der Suchparameter "_profile" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Procedure?_profile=https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis

    Anwendungshinweise: Weitere Informationen zur Suche nach "_profile" finden sich in der FHIR-Basisspezifikation - Abschnitt "Parameters for all resources".

  3. Der Suchparameter "focus" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Procedure?focus=Condition/example-mii-mtb-diagnose

    Anwendungshinweise: Weitere Informationen zur Suche nach "focus" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  4. Der Suchparameter "specimen" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Procedure?specimen=Specimen/example-mii-mtb-specimen

    Anwendungshinweise: Weitere Informationen zur Suche nach "specimen" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  5. Der Suchparameter "device" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Procedure?device=Device/example-mii-molgen-device-sequencer

    Anwendungshinweise: Weitere Informationen zur Suche nach "device" finden sich in der FHIR-Basisspezifikation - Abschnitt "reference".

  6. Der Suchparameter "category" MUSS unterstützt werden:

    Beispiele:

    GET [base]/Procedure?category=http://terminology.hl7.org/CodeSystem/observation-category|laboratory

    Anwendungshinweise: Weitere Informationen zur Suche nach "category" finden sich in der FHIR-Basisspezifikation - Abschnitt "token".


Beispiele

GenomicStudy

Procedure.id[0]MII-EXA-MTB-GenomicStudyAnalysis-1
Procedure.meta[0].profile[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis
Procedure.extension[0].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type
Procedure.extension[0].value[0].coding[0].system[0]http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs
Procedure.extension[0].value[0].coding[0].code[0]ngs-mps
Procedure.extension[0].value[0].coding[0].display[0]Next-Generation (NGS)/Massively parallel sequencing (MPS)
Procedure.extension[1].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus
Procedure.extension[1].value[0].reference[0]Patient/example
Procedure.extension[2].extension[0].url[0]device
Procedure.extension[2].extension[0].value[0].reference[0]Device/MII-EXA-MTB-Device-Sequencer-1
Procedure.extension[2].extension[1].url[0]function
Procedure.extension[2].extension[1].value[0].coding[0].system[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[2].extension[1].value[0].coding[0].code[0]sequencing-device
Procedure.extension[2].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[3].extension[0].url[0]device
Procedure.extension[3].extension[0].value[0].reference[0]Device/MII-EXA-MTB-Device-SequencingKit-1
Procedure.extension[3].extension[1].url[0]function
Procedure.extension[3].extension[1].value[0].coding[0].system[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[3].extension[1].value[0].coding[0].code[0]sequencing-kit
Procedure.extension[3].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[4].extension[0].url[0]device
Procedure.extension[4].extension[0].value[0].reference[0]Device/MII-EXA-MTB-Device-LibraryPreparation-Kit-1
Procedure.extension[4].extension[1].url[0]function
Procedure.extension[4].extension[1].value[0].coding[0].system[0]https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction
Procedure.extension[4].extension[1].value[0].coding[0].code[0]library-preparation-kit
Procedure.extension[4].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device
Procedure.extension[5].url[0]http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build
Procedure.extension[5].value[0].coding[0].system[0]http://loinc.org
Procedure.extension[5].value[0].coding[0].code[0]LA26806-2
Procedure.extension[5].value[0].coding[0].display[0]GRCh38
Procedure.status[0]completed
Procedure.category[0].coding[0].system[0]http://terminology.hl7.org/CodeSystem/observation-category
Procedure.category[0].coding[0].code[0]laboratory
Procedure.subject[0].reference[0]Patient/example
{
"resourceType": "Procedure",
"id": "MII-EXA-MTB-GenomicStudyAnalysis-1",
"meta": {
"profile": [
"https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/StructureDefinition/genomic-study-analysis"
]
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-method-type",
"coding": [
{
"code": "ngs-mps",
"system": "http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-method-type-cs",
"display": "Next-Generation (NGS)/Massively parallel sequencing (MPS)"
}
]
}
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-focus",
"reference": "Patient/example"
}
},
{
{
"url": "device",
"reference": "Device/MII-EXA-MTB-Device-Sequencer-1"
}
},
{
"url": "function",
"coding": [
{
"code": "sequencing-device",
"system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
}
]
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
{
"url": "device",
"reference": "Device/MII-EXA-MTB-Device-SequencingKit-1"
}
},
{
"url": "function",
"coding": [
{
"code": "sequencing-kit",
"system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
}
]
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
{
"url": "device",
"reference": "Device/MII-EXA-MTB-Device-LibraryPreparation-Kit-1"
}
},
{
"url": "function",
"coding": [
{
"code": "library-preparation-kit",
"system": "https://www.medizininformatik-initiative.de/fhir/ext/modul-mtb/CodeSystem/mii-cs-mtb-genomicanalysis-devicefunction"
}
]
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-genome-build",
"coding": [
{
"code": "LA26806-2",
"system": "http://loinc.org",
"display": "GRCh38"
}
]
}
}
],
"status": "completed",
"coding": [
{
"system": "http://terminology.hl7.org/CodeSystem/observation-category",
"code": "laboratory"
}
]
},
"subject": {
"reference": "Patient/example"
}
}