Notice
- Important: This guidance is under active development by NHS England and content may be added or updated on a regular basis.
- This Implementation Guide is currently in Draft and SHOULD NOT be used for development or active implementation without express direction from the NHS England Genomics Unit.
Procedure
Procedure-GenomicStudy-Example
Example of a GenomicStudy resource referencing its associated Genomics Study Analysis procedure resource.
| Procedure |
| id : Procedure-GenomicStudy-Example |
| extension |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext |
| value |
| reference : Procedure/Procedure-PGXGenomicStudyAnalysis-Example |
| display : PGX Genomic Study Analysis |
| status : completed |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/observation-category |
| code : laboratory |
| display : Laboratory |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
{
{
}
}
],
{
}
]
},
}
}
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
</valueReference>
</extension>
</coding>
</category>
</subject>
</Procedure>
Procedure-InVitroFertilisation-Example
Example of a procedure resource indicating method of pregnancy conception and source of Egg donor.
| Procedure |
| id : Procedure-InVitroFertilisation-Example |
| status : completed |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 52637005 |
| display : In vitro fertilisation |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307687 |
| performed : 2023-08-05 |
| note |
| text : Woman`s own egg |
{
]
},
},
]
}
</coding>
</code>
</identifier>
</subject>
</note>
</Procedure>
Procedure-PGXGenomicStudyAnalysis-Example
Example of a Genomic Study Analysis procedure resource indicating references to the devices (physical, computer hardware and softwares, e.t.c,) used in carrying out the procedure.
| Procedure |
| id : Procedure-PGXGenomicStudyAnalysis-Example |
| extension |
| extension |
| url : device |
| value |
| reference : Device/Device-SampleCollectionKit-Example |
| display : DNA Sample Collection Kit (Saliva/Buccal Swab) |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : Device/Device-DNAExtractionSystem-Example |
| display : Automated DNA Extraction System |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : Device/Device-BioAnalyzerSystem-Example |
| display : Quality Control System (Bioanalyzer/Qubit) |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : Device/Device-Sequencerillumina-Example |
| display : Illumina NextSeq 2000 Sequencer |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : Device/Device-BioinformaticsPipeline-Example |
| display : Bioinformatics Analysis Pipeline v5.2 |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : Device/Device-VariantSnnotationTool-Example |
| display : Variant Annotation & Interpretation Software |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : Device/Device-GenomicReportingSystem-Example |
| display : Genomic Reporting System |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| status : completed |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/observation-category |
| code : laboratory |
| display : Laboratory |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
{
{
{
}
}
],
"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-device"
},
{
{
}
}
],
"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-device"
},
{
{
}
}
],
"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-device"
},
{
{
}
}
],
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device"
}
],
{
}
]
},
}
}
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
</coding>
</category>
</subject>
</Procedure>
Procedure-MichaelJonesTransplant
Example of a simple procedure resource with minimal information.
| Procedure |
| id : UKCore-Procedure-MichaelJonesTransplant-Example |
| status : completed |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 23719005 |
| display : Transplantation of bone marrow |
| subject |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9999999999 |
| performed : 2020-01-19 |
{
{
}
]
},
},
}
</coding>
</code>
</identifier>
</subject>
</Procedure>
CommunityCloud-GenomicStudy-Example
Example of a GenomicStudy resource capturing details required for the Community Cloud Project.
| Procedure |
| id : fc708a88-9a59-4efd-9ff7-c028cf2b9491 |
| meta |
| profile : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study |
| extension |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext |
| value |
| reference : Procedure/9bc12bd5-8e06-4f10-949e-512bb623552e |
| status : completed |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/observation-category |
| code : laboratory |
| code |
| text : Small |
| subject |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : SomePatientIdentifier |
| performed : 2025-11-25T17:49:00Z |
| reasonCode |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R134 |
| display : Familial Hypercholesterolaemia |
| note |
| text : Rare Disease |
{
},
{
}
}
],
]
},
},
}
},
{
{
}
]
}
],
]
}
</meta>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-ext">
</valueReference>
</extension>
</coding>
</category>
</code>
</identifier>
</subject>
</coding>
</reasonCode>
</note>
</Procedure>
CommunityCloud-GenomicStudyAnalysis-Example
Example of a GenomicStudy resource capturing details required for the Community Cloud Project.
| Procedure |
| id : 9bc12bd5-8e06-4f10-949e-512bb623552e |
| meta |
| profile : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis |
| extension |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen |
| value |
| reference : Specimen/b6c3ebd7-53e4-450b-b46f-0e9f83d995e6 |
| extension |
| extension |
| url : device |
| value |
| reference : Device/44ae1fac-d147-43fb-87ba-35f6bc056f51 |
| extension |
| url : function |
| value |
| text : Sequencing platform |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : Device/1e73bfaf-b851-463f-98df-c2b6582a948e |
| extension |
| url : function |
| value |
| text : Bioinformatics Pipeline |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : device |
| value |
| reference : Device/04a7b32d-2270-4e4e-a1bb-80f0eaa0c4cc |
| extension |
| url : function |
| value |
| text : Bioinformatics Variant Caller |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device |
| extension |
| extension |
| url : type |
| value |
| coding |
| system : http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs |
| code : vcf |
| display : VCF |
| extension |
| url : file |
| value |
| reference : DocumentReference/1e6aef26-d201-43d1-b54c-087cd4ee5c24 |
| url : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output |
| status : completed |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/observation-category |
| code : laboratory |
| subject |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : SomePatientIdentifier |
| performed : 2025-11-25T17:49:00Z |
{
"http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis"
]
},
{
"url": "http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen",
}
},
{
{
},
{
}
],
"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-device"
},
{
{
},
{
}
],
"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-output"
}
],
]
},
}
},
}
<profile value="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis" />
</meta>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-specimen">
</valueReference>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-device">
</valueReference>
</extension>
</extension>
</extension>
<extension url="http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-study-analysis-output">
<system value="http://hl7.org/fhir/uv/genomics-reporting/CodeSystem/genomic-study-data-format-cs" />
</coding>
</valueCodeableConcept>
</extension>
</valueReference>
</extension>
</extension>
</coding>
</category>
</identifier>
</subject>
</Procedure>