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.
DocumentReference
DocumentReference-PharmCAT-Example
Example of a DocumentReference depicting a reference to a genomic data file linked to a DiagnosticReport for a Patient.
| DocumentReference |
| id : DocumentReference-PharmCAT-Example |
| status : current |
| docStatus : final |
| subject |
| reference : Patient/Patient-AnitaLamberts-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 8449303649 |
| date : 2023-11-24T09:45:00+00:00 |
| author |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RJ1 |
| description : Phenotype Report |
| content |
| attachment |
| contentType : application/json |
| url : drs://drs.genomicsengland.nhs.uk/ga4gh/drs/v1/objects/42375e7d-071c-4eb3-b1c8-cec11e245cf0 |
| title : PharmCAT JSON report |
| context |
| related |
| reference : ServiceRequest/ServiceRequest-NonWGSTestOrderForm-NewFollowupTest-Example |
| related |
| reference : Specimen/Specimen-BloodEDTA-Example |
{
}
},
],
{
"url": "drs://drs.genomicsengland.nhs.uk/ga4gh/drs/v1/objects/42375e7d-071c-4eb3-b1c8-cec11e245cf0",
}
}
],
{
},
{
}
]
}
}
</identifier>
</subject>
</identifier>
</author>
<url value="drs://drs.genomicsengland.nhs.uk/ga4gh/drs/v1/objects/42375e7d-071c-4eb3-b1c8-cec11e245cf0" />
</attachment>
</content>
</related>
</related>
</context>
</DocumentReference>
DocumentReference-StructureReporting-Example
Example of a DocumentReference depicting a reference to a genomic data file linked to a DiagnosticReport for a Patient.
| DocumentReference |
| id : DocumentReference-StructureReporting-Example |
| status : current |
| docStatus : final |
| subject |
| reference : Patient/Patient-PheobeSmitham-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307539 |
| date : 2023-10-16T09:45:00+00:00 |
| author |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : R0A |
| description : Phenotype Report |
| content |
| attachment |
| contentType : application/json |
| url : drs://drs.genomicsengland.nhs.uk/ga4gh/drs/v1/objects/42375e7d-071c-4eb3-b1c8-cec11e245cf0 |
| title : -Structure Data Capture JSON report |
| context |
| related |
| reference : ServiceRequest/ServiceRequest-WGSTestOrderFormUpdated-TrioTesting-Example |
| related |
| reference : Specimen/Specimen-PheobeSmitham-Example |
| related |
| reference : Specimen/Specimen-PheobeSmithamFather-Example |
| related |
| reference : Specimen/Specimen-PheobeSmithamMother-Example |
{
}
},
],
{
"url": "drs://drs.genomicsengland.nhs.uk/ga4gh/drs/v1/objects/42375e7d-071c-4eb3-b1c8-cec11e245cf0",
}
}
],
{
},
{
},
{
},
{
}
]
}
}
</identifier>
</subject>
</identifier>
</author>
<url value="drs://drs.genomicsengland.nhs.uk/ga4gh/drs/v1/objects/42375e7d-071c-4eb3-b1c8-cec11e245cf0" />
</attachment>
</content>
</related>
</related>
</related>
</related>
</context>
</DocumentReference>
CommunityCloud-VCFDocumentReference-Example
Example of a DocumentReference depicting a reference to a genomic data file containing the minimal information required for the Community Cloud Project.
| DocumentReference |
| id : 1e6aef26-d201-43d1-b54c-087cd4ee5c24 |
| meta |
| profile : http://hl7.org/fhir/uv/genomics-reporting/StructureDefinition/genomic-data-file |
| status : current |
| subject |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : SomePatientIdentifier |
| author |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : 699M0 |
| display : NHS EAST GENOMIC LABORATORY HUB |
| content |
| attachment |
| contentType : application/gzip |
| url : https://002-cen.s3.eu-west-2.amazonaws.com/grch38/haplotyper_normalised_v0.3/140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz |
| title : 140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz |
{
},
}
},
{
},
}
],
{
"url": "https://002-cen.s3.eu-west-2.amazonaws.com/grch38/haplotyper_normalised_v0.3/140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz",
}
}
]
}
</meta>
</identifier>
</subject>
</identifier>
</author>
<url value="https://002-cen.s3.eu-west-2.amazonaws.com/grch38/haplotyper_normalised_v0.3/140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz" />
<title value="140103896-25301R0078-25NGCEN64-9527-F-99347387_markdup_recalibrated_Haplotyper.vcf.gz" />
</attachment>
</content>
</DocumentReference>