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.
Bundle-WGSTestOrderForm-Example
Example of a WGS test request sent to the central broker, as described in the Clinical Scenario: WGS Test Request - Rare Disease.
| Bundle |
| id : Bundle-WGSTestOrderForm-Example |
| type : transaction |
| entry |
| fullUrl : http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| resource |
| id : PractitionerRole-HazelSmithRenal-Example |
| practitioner |
| identifier |
| system : https://fhir.nhs.uk/Id/sds-user-id |
| value : 9999999998 |
| display : Dr. Hazel Smith |
| organization |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| display : Kingston Hospital NHS Foundation Trust |
| specialty |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-PracticeSettingCode |
| code : 361 |
| display : Renal Medicine |
| telecom |
| system : phone |
| value : 02085467711 |
| telecom |
| system : email |
| value : Hazel.smith12@nhs.net |
| telecom |
| system : email |
| value : renalseckingston@nhs.net |
| extension |
| url : http://hl7.org/fhir/StructureDefinition/contactpoint-comment |
| value : reporting |
| request |
| method : POST |
| url : PractitionerRole |
| entry |
| fullUrl : http://example.org/fhir/Patient/Patient-LindsaySorrell-Example |
| resource |
| id : Patient-LindsaySorrell-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-BirthSex |
| value |
| coding |
| system : http://terminology.hl7.org/CodeSystem/v3-AdministrativeGender |
| code : M |
| display : Male |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-EthnicCategory |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-EthnicCategoryEngland |
| code : A |
| display : White - British |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-NHSNumberVerificationStatusEngland |
| version : 2.2.0 |
| code : 01 |
| display : Number present and verified |
| identifier |
| system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24 |
| value : RWT14789 |
| assigner |
| identifier |
| system : https://fhir.nhs.uk/Id/ods-organization-code |
| value : RAX01 |
| name |
| given : Lindsay |
| family : Sorrell |
| birthDate : 2011-04-12 |
| deceased : False |
| address |
| line : 31 THE AVENUE |
| line : BERWICK COURT |
| postalCode : KT4 7BS |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/gmp-number |
| value : G9999999 |
| display : Dr. Aero Smith |
| generalPractitioner |
| identifier |
| system : https://fhir.hl7.org.uk/Id/ODS-code |
| value : AP123 |
| display : anywhere place |
| link |
| other |
| reference : https://api.service.nhs.uk/personal-demographics/FHIR/R4/Patient/9449307946 |
| type : seealso |
| request |
| method : POST |
| url : Patient |
| ifNoneExist : Patient?identifier=https://fhir.nhs.uk/Id/nhs-number|9449307946 |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-GenomicEthnicity-Example |
| resource |
| id : Observation-GenomicEthnicity-Example |
| status : preliminary |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 723621000000103 |
| display : Ethnicity |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| value : unknown |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/ServiceRequest/ServiceRequest-WGSTestOrderForm-Example |
| resource |
| id : ServiceRequest-WGSTestOrderForm-Example |
| extension |
| url : https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage |
| value |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory |
| code : nhs-england |
| display : NHS England |
| status : active |
| intent : order |
| category |
| coding |
| system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory |
| code : rare-disease-wgs |
| display : Rare Disease - WGS |
| category |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics |
| code : diagnostic |
| display : Diagnostic |
| priority : routine |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R193.4 |
| display : Cystic renal disease |
| version : 7 |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| authoredOn : 2023-08-08 |
| requester |
| reference : PractitionerRole/PractitionerRole-HazelSmithRenal-Example |
| supportingInfo |
| reference : Condition/Condition-MonogenicHearingLoss-Example |
| supportingInfo |
| reference : Observation/Observation-GenomicEthnicity-Example |
| supportingInfo |
| reference : Observation/Observation-NoPregnancy-Example |
| supportingInfo |
| reference : Observation/Observation-NoBoneMarrowTransplant-Example |
| supportingInfo |
| reference : Observation/Observation-NoTransfusion-Example |
| supportingInfo |
| reference : Observation/Observation-MultipleRenalCysts-Example |
| supportingInfo |
| reference : Observation/Observation-Nephronophthisis-Example |
| supportingInfo |
| reference : Observation/Observation-HepaticCysts-Example |
| supportingInfo |
| reference : Observation/Observation-EnlargedKidney-Example |
| supportingInfo |
| reference : Observation/Observation-RenalInsufficiency-Example |
| supportingInfo |
| reference : Consent/Consent-RoDToFollow-Example |
| note |
| text : No family history of genomic testing |
| note |
| text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example) |
| request |
| method : POST |
| url : ServiceRequest |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoPregnancy-Example |
| resource |
| id : Observation-NoPregnancy-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 60001007 |
| display : Not pregnant |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Condition/Condition-MonogenicHearingLoss-Example |
| resource |
| id : Condition-MonogenicHearingLoss-Example |
| clinicalStatus |
| coding |
| system : http://terminology.hl7.org/CodeSystem/condition-clinical |
| code : inactive |
| display : inactive |
| verificationStatus |
| coding |
| system : http://terminology.hl7.org/CodeSystem/condition-ver-status |
| code : provisional |
| display : Provisional |
| code |
| coding |
| system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory |
| code : R67.2 |
| display : Monogenic hearing loss |
| version : 7 |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| request |
| method : POST |
| url : Condition |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NonConsanguinousUnion-Example |
| resource |
| id : Observation-NonConsanguinousUnion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 160475008 |
| display : Family history: Consanguinity |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoBoneMarrowTransplant-Example |
| resource |
| id : Observation-NoBoneMarrowTransplant-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 445715009 |
| display : Blood and marrow transplantation |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-NoTransfusion-Example |
| resource |
| id : Observation-NoTransfusion-Example |
| status : final |
| code |
| coding |
| system : http://snomed.info/sct |
| code : 416128008 |
| display : No history of procedure |
| value |
| coding |
| system : http://snomed.info/sct |
| code : 303955003 |
| display : Transfusion - action |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-MultipleRenalCysts-Example |
| resource |
| id : Observation-MultipleRenalCysts-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0005562 |
| display : Multiple renal cysts |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-Nephronophthisis-Example |
| resource |
| id : Observation-Nephronophthisis-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0000090 |
| display : Nephronophthisis |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-HepaticCysts-Example |
| resource |
| id : Observation-HepaticCysts-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0001407 |
| display : Hepatic cysts |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : False |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-EnlargedKidney-Example |
| resource |
| id : Observation-EnlargedKidney-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0000105 |
| display : Enlarged kidney |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : True |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Observation/Observation-RenalInsufficiency-Example |
| resource |
| id : Observation-RenalInsufficiency-Example |
| status : final |
| code |
| coding |
| system : http://human-phenotype-ontology.org |
| version : 20221005 |
| code : HP:0000083 |
| display : Renal insufficiency |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| effective : 2023-08-05 |
| value : True |
| request |
| method : POST |
| url : Observation |
| entry |
| fullUrl : http://example.org/fhir/Specimen/Specimen-BloodEDTA-Example |
| resource |
| id : Specimen-BloodEDTA-Example |
| identifier |
| system : https://fhir.add.nhs.uk/Id/specimenId |
| value : RGT03135 |
| status : unavailable |
| type |
| coding |
| system : http://snomed.info/sct |
| code : 119297000 |
| display : Blood specimen |
| subject |
| reference : Patient/Patient-LindsaySorrell-Example |
| identifier |
| system : https://fhir.nhs.uk/Id/nhs-number |
| value : 9449307946 |
| request |
| reference : ServiceRequest/ServiceRequest-WGSTestOrderForm-Example |
| container |
| additive |
| coding |
| system : http://snomed.info/sct |
| code : 69519002 |
| display : EDTA |
| request |
| method : POST |
| url : Specimen |
| entry |
| fullUrl : http://example.org/fhir/Consent/Consent-RoDToFollow-Example |
| resource |
| id : Consent-RoDToFollow-Example |
| status : proposed |
| scope |
| coding |
| system : http://terminology.hl7.org/CodeSystem/consentscope |
| code : research |
| display : Research |
| category |
| coding |
| system : http://terminology.hl7.org/CodeSystem/consentcategorycodes |
| code : research |
| display : Research Information Access |
| policy |
| authority : https://www.england.nhs.uk |
| uri : https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form |
| provision |
| data |
| meaning : instance |
| reference |
| reference : ServiceRequest/ServiceRequest-WGSTestOrderForm-Example |
| request |
| method : POST |
| url : Consent |
{
{
},
},
},
},
{
{
}
]
}
],
{
},
{
},
{
{
}
]
}
]
},
}
},
{
{
{
}
]
}
},
{
{
}
]
}
}
],
{
{
{
}
]
}
}
]
},
{
}
}
],
],
],
{
},
},
{
},
}
],
{
},
}
]
},
}
},
{
]
},
}
},
},
}
},
{
{
{
}
]
}
}
],
{
{
}
]
},
{
{
}
]
}
],
{
}
]
},
}
},
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
},
{
}
],
{
},
{
"text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)"
}
]
},
}
},
{
},
}
},
},
}
},
{
{
}
]
},
{
}
]
},
{
}
]
},
}
}
},
}
},
{
{
}
]
},
}
},
},
}
},
{
]
},
{
}
]
},
}
},
},
}
},
{
]
},
]
},
}
},
},
}
},
{
{
}
]
},
}
},
},
}
},
{
{
}
]
},
}
},
},
}
},
{
{
}
]
},
}
},
},
}
},
{
{
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]
},
}
},
},
}
},
{
{
}
]
},
}
},
},
}
},
{
],
]
},
}
},
],
{
}
}
]
},
}
},
{
{
}
]
},
{
{
}
]
}
],
{
"uri": "https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form"
}
],
{
}
}
]
}
},
}
}
]
}
<fullUrl value="http://example.org/fhir/PractitionerRole/PractitionerRole-HazelSmithRenal-Example" />
<PractitionerRole>
</identifier>
</practitioner>
</identifier>
</organization>
</coding>
</specialty>
</telecom>
</telecom>
</extension>
</telecom>
</PractitionerRole>
</resource>
</request>
</entry>
<Patient>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</valueCodeableConcept>
</extension>
<extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-NHSNumberVerificationStatus">
</coding>
</valueCodeableConcept>
</extension>
</identifier>
</identifier>
</assigner>
</identifier>
</name>
</address>
</identifier>
</generalPractitioner>
</identifier>
</generalPractitioner>
</other>
</link>
</Patient>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<ServiceRequest>
</coding>
</valueCodeableConcept>
</extension>
</coding>
</category>
</coding>
</category>
</coding>
</code>
</identifier>
</subject>
</requester>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</supportingInfo>
</note>
<text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ Patient diagnoses with ADPKD (example)" />
</note>
</ServiceRequest>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Condition>
</coding>
</clinicalStatus>
</coding>
</verificationStatus>
</coding>
</code>
</identifier>
</subject>
</Condition>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</coding>
</valueCodeableConcept>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Observation>
</coding>
</code>
</identifier>
</subject>
</Observation>
</resource>
</request>
</entry>
<Specimen>
</identifier>
</coding>
</type>
</identifier>
</subject>
</request>
</coding>
</additiveCodeableConcept>
</container>
</Specimen>
</resource>
</request>
</entry>
<Consent>
</coding>
</scope>
</coding>
</category>
<uri value="https://www.england.nhs.uk/publication/nhs-genomic-medicine-service-record-of-discussion-form" />
</policy>
</reference>
</data>
</provision>
</Consent>
</resource>
</request>
</entry>
</Bundle>