FHIR Genomics Implementation Guide

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.

ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example

Example of a ServiceRequest using an existing specimen. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.

ServiceRequest

id : ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-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

display : NHS

status : active

intent : order

category

coding

system : https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory

code : rare-disease-non-wgs

display : Rare Disease - Non-WGS

priority : routine

code

coding

system : https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory

code : R134

display : Familial Hypercholesterolaemia

subject

reference : Patient/Patient-TimMclullichs-Example

identifier

system : https://fhir.nhs.uk/Id/nhs-number

value : 8449303452

authoredOn : 2023-11-02T11:00:00Z

requester

reference : PractitionerRole/PractitionerRole-OscarShields-Example

reasonCode

coding

system : http://snomed.info/sct

code : 1186936003

display : Storage of specimen

supportingInfo

reference : Observation/Observation-GenomicEthnicity-Example

supportingInfo

reference : Observation/Observation-DiseaseStatus-Example

supportingInfo

reference : Observation/Observation-NonConsanguinousUnion-Example

supportingInfo

reference : FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example

supportingInfo

reference : Observation/Observation-NoBoneMarrowTransplant-Example

supportingInfo

reference : Observation/Observation-NoTransfusion-Example

supportingInfo

reference : Observation/Observation-DutchLipidScore-Example

supportingInfo

reference : Observation/Observation-QueryXanthoma-Example

supportingInfo

reference : Observation/Observation-SimonBroomeCriteria-Example

specimen

reference : Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example

identifier

system : https://fhir.bwc.nhs.uk//Id/specimenId

value : RQ3-RTH-698C0-17543

assigner

identifier

system : https://fhir.nhs.uk/Id/ods-organization-code

value : RQ3

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 to be tested for FH, use existing DNA sample in storage

{
    "resourceType": "ServiceRequest",
    "id": "ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example",
    "extension":  [
        {
            "url": "https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage",
            "valueCodeableConcept": {
                "coding":  [
                    {
                        "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory",
                        "code": "nhs",
                        "display": "NHS"
                    }
                ]
            }
        }
    ],
    "status": "active",
    "intent": "order",
    "category":  [
        {
            "coding":  [
                {
                    "system": "https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory",
                    "code": "rare-disease-non-wgs",
                    "display": "Rare Disease - Non-WGS"
                }
            ]
        }
    ],
    "priority": "routine",
    "code": {
        "coding":  [
            {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R134",
                "display": "Familial Hypercholesterolaemia"
            }
        ]
    },
    "subject": {
        "reference": "Patient/Patient-TimMclullichs-Example",
        "identifier": {
            "system": "https://fhir.nhs.uk/Id/nhs-number",
            "value": "8449303452"
        }
    },
    "authoredOn": "2023-11-02T11:00:00Z",
    "requester": {
        "reference": "PractitionerRole/PractitionerRole-OscarShields-Example"
    },
    "reasonCode":  [
        {
            "coding":  [
                {
                    "system": "http://snomed.info/sct",
                    "code": "1186936003",
                    "display": "Storage of specimen"
                }
            ]
        }
    ],
    "supportingInfo":  [
        {
            "reference": "Observation/Observation-GenomicEthnicity-Example"
        },
        {
            "reference": "Observation/Observation-DiseaseStatus-Example"
        },
        {
            "reference": "Observation/Observation-NonConsanguinousUnion-Example"
        },
        {
            "reference": "FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example"
        },
        {
            "reference": "Observation/Observation-NoBoneMarrowTransplant-Example"
        },
        {
            "reference": "Observation/Observation-NoTransfusion-Example"
        },
        {
            "reference": "Observation/Observation-DutchLipidScore-Example"
        },
        {
            "reference": "Observation/Observation-QueryXanthoma-Example"
        },
        {
            "reference": "Observation/Observation-SimonBroomeCriteria-Example"
        }
    ],
    "specimen":  [
        {
            "reference": "Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example",
            "identifier":  [
                {
                    "system": "https://fhir.bwc.nhs.uk//Id/specimenId",
                    "value": "RQ3-RTH-698C0-17543",
                    "assigner": {
                        "identifier": {
                            "system": "https://fhir.nhs.uk/Id/ods-organization-code",
                            "value": "RQ3"
                        }
                    }
                }
            ]
        }
    ],
    "note":  [
        {
            "text": "No family history of genomic testing"
        },
        {
            "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ patient to be tested for FH, use existing DNA sample in storage"
        }
    ]
}

<ServiceRequest xmlns="http://hl7.org/fhir">
    <id value="ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example" />
    <extension url="https://fhir.hl7.org.uk/StructureDefinition/Extension-UKCore-Coverage">
        <valueCodeableConcept>
            <coding>
                <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-FundingCategory" />
                <code value="nhs" />
                <display value="NHS" />
            </coding>
        </valueCodeableConcept>
    </extension>
    <status value="active" />
    <intent value="order" />
    <category>
        <coding>
            <system value="https://fhir.hl7.org.uk/CodeSystem/UKCore-GenomeSequencingCategory" />
            <code value="rare-disease-non-wgs" />
            <display value="Rare Disease - Non-WGS" />
        </coding>
    </category>
    <priority value="routine" />
    <code>
        <coding>
            <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
            <code value="R134" />
            <display value="Familial Hypercholesterolaemia" />
        </coding>
    </code>
    <subject>
        <reference value="Patient/Patient-TimMclullichs-Example" />
        <identifier>
            <system value="https://fhir.nhs.uk/Id/nhs-number" />
            <value value="8449303452" />
        </identifier>
    </subject>
    <authoredOn value="2023-11-02T11:00:00Z" />
    <requester>
        <reference value="PractitionerRole/PractitionerRole-OscarShields-Example" />
    </requester>
    <reasonCode>
        <coding>
            <system value="http://snomed.info/sct" />
            <code value="1186936003" />
            <display value="Storage of specimen" />
        </coding>
    </reasonCode>
    <supportingInfo>
        <reference value="Observation/Observation-GenomicEthnicity-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-DiseaseStatus-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NonConsanguinousUnion-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="FamilyMemberHistory/FamilyMemberHistory-NonConsanguinousUnion-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NoBoneMarrowTransplant-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NoTransfusion-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-DutchLipidScore-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-QueryXanthoma-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-SimonBroomeCriteria-Example" />
    </supportingInfo>
    <specimen>
        <reference value="Specimen/Specimen-BloodEDTA-WithCollectoinDetails-Example" />
        <identifier>
            <system value="https://fhir.bwc.nhs.uk//Id/specimenId" />
            <value value="RQ3-RTH-698C0-17543" />
            <assigner>
                <identifier>
                    <system value="https://fhir.nhs.uk/Id/ods-organization-code" />
                    <value value="RQ3" />
                </identifier>
            </assigner>
        </identifier>
    </specimen>
    <note>
        <text value="No family history of genomic testing" />
    </note>
    <note>
        <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ patient to be tested for FH, use existing DNA sample in storage" />
    </note>
</ServiceRequest>

Notice

ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example

Propose a change to ServiceRequest-NonWGSTestOrderForm-UsingStoredSample-Example