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-FetalScenario-Example

Example of a ServiceRequest for a foetus. After being sent to the central broker, the ServiceRequest is assigned a unique identifier.

ServiceRequest

id : ServiceRequest-NonWGSTestOrderForm-FetalScenario-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-non-wgs

display : Rare Disease - Non-WGS

priority : urgent

code

coding

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

code : R21

display : Fetal anomalies with a likely genetic cause

version : 7

subject

reference : Patient/Patient-FoetusOfRyanneBoulder-Example

identifier

system : urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24

value : FT-RWT13521

assigner

identifier

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

value : RAX

authoredOn : 2023-09-25

requester

reference : PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example

reasonCode

coding

system : https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics

code : staging-or-prognosis

display : Staging or Prognosis

supportingInfo

reference : Observation/Observation-HistoryOfFetalLoss-Example

supportingInfo

reference : Observation/Observation-NonConsanguinousUnion-Example

supportingInfo

reference : Observation/Observation-GenomicEthnicity-Example

supportingInfo

reference : Observation/Observation-PregnancyConfirmation-Example

supportingInfo

reference : Observation/Observation-NoTransplant-Example

supportingInfo

reference : Observation/Observation-NoFirstTrimesterFetalAnomalies-Example

supportingInfo

reference : Observation/Observation-NoSecondTrimesterFetalAnomalies-Example

supportingInfo

reference : Procedure/Procedure-InVitroFertilisation-Example

supportingInfo

reference : RelatedPerson/RelatedPerson-RyanneBoulder-Example

supportingInfo

reference : Patient/Patient-RyanneBoulder-Example

supportingInfo

reference : RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example

supportingInfo

reference : Patient/Patient-RyanneBoulderPartner-Example

supportingInfo

reference : Specimen/Specimen-BloodEDTA-Example

supportingInfo

reference : Specimen/Specimen-RyanneBoulderSaliva-Example

note

text : Samples are to be provided at a later date

note

text : No family history of relevant testing

note

text : Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder

{
    "resourceType": "ServiceRequest",
    "id": "ServiceRequest-NonWGSTestOrderForm-FetalScenario-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-england",
                        "display": "NHS England"
                    }
                ]
            }
        }
    ],
    "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": "urgent",
    "code": {
        "coding":  [
            {
                "system": "https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory",
                "code": "R21",
                "display": "Fetal anomalies with a likely genetic cause",
                "version": "7"
            }
        ]
    },
    "subject": {
        "reference": "Patient/Patient-FoetusOfRyanneBoulder-Example",
        "identifier":  [
            {
                "system": "urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24",
                "value": "FT-RWT13521",
                "assigner": {
                    "identifier": {
                        "system": "https://fhir.nhs.uk/Id/ods-organization-code",
                        "value": "RAX"
                    }
                }
            }
        ]
    },
    "authoredOn": "2023-09-25",
    "requester": {
        "reference": "PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example"
    },
    "reasonCode":  [
        {
            "coding":  [
                {
                    "system": "https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics",
                    "code": "staging-or-prognosis",
                    "display": "Staging or Prognosis"
                }
            ]
        }
    ],
    "supportingInfo":  [
        {
            "reference": "Observation/Observation-HistoryOfFetalLoss-Example"
        },
        {
            "reference": "Observation/Observation-NonConsanguinousUnion-Example"
        },
        {
            "reference": "Observation/Observation-GenomicEthnicity-Example"
        },
        {
            "reference": "Observation/Observation-PregnancyConfirmation-Example"
        },
        {
            "reference": "Observation/Observation-NoTransplant-Example"
        },
        {
            "reference": "Observation/Observation-NoFirstTrimesterFetalAnomalies-Example"
        },
        {
            "reference": "Observation/Observation-NoSecondTrimesterFetalAnomalies-Example"
        },
        {
            "reference": "Procedure/Procedure-InVitroFertilisation-Example"
        },
        {
            "reference": "RelatedPerson/RelatedPerson-RyanneBoulder-Example"
        },
        {
            "reference": "Patient/Patient-RyanneBoulder-Example"
        },
        {
            "reference": "RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example"
        },
        {
            "reference": "Patient/Patient-RyanneBoulderPartner-Example"
        },
        {
            "reference": "Specimen/Specimen-BloodEDTA-Example"
        },
        {
            "reference": "Specimen/Specimen-RyanneBoulderSaliva-Example"
        }
    ],
    "note":  [
        {
            "text": "Samples are to be provided at a later date"
        },
        {
            "text": "No family history of relevant testing"
        },
        {
            "text": "Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder"
        }
    ]
}

<ServiceRequest xmlns="http://hl7.org/fhir">
    <id value="ServiceRequest-NonWGSTestOrderForm-FetalScenario-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-england" />
                <display value="NHS England" />
            </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="urgent" />
    <code>
        <coding>
            <system value="https://fhir.nhs.uk/CodeSystem/England-GenomicTestDirectory" />
            <version value="7" />
            <code value="R21" />
            <display value="Fetal anomalies with a likely genetic cause" />
        </coding>
    </code>
    <subject>
        <reference value="Patient/Patient-FoetusOfRyanneBoulder-Example" />
        <identifier>
            <system value="urn:oid:2.16.840.1.113883.2.1.3.2.4.18.24" />
            <value value="FT-RWT13521" />
            <assigner>
                <identifier>
                    <system value="https://fhir.nhs.uk/Id/ods-organization-code" />
                    <value value="RAX" />
                </identifier>
            </assigner>
        </identifier>
    </subject>
    <authoredOn value="2023-09-25" />
    <requester>
        <reference value="PractitionerRole/PractitionerRole-LoisLaneKingstonClinicalGenetics-Example" />
    </requester>
    <reasonCode>
        <coding>
            <system value="https://fhir.nhs.uk/CodeSystem/reasonfortesting-genomics" />
            <code value="staging-or-prognosis" />
            <display value="Staging or Prognosis" />
        </coding>
    </reasonCode>
    <supportingInfo>
        <reference value="Observation/Observation-HistoryOfFetalLoss-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NonConsanguinousUnion-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-GenomicEthnicity-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-PregnancyConfirmation-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NoTransplant-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NoFirstTrimesterFetalAnomalies-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Observation/Observation-NoSecondTrimesterFetalAnomalies-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Procedure/Procedure-InVitroFertilisation-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="RelatedPerson/RelatedPerson-RyanneBoulder-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Patient/Patient-RyanneBoulder-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="RelatedPerson/RelatedPerson-RyanneBoulderPartner-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Patient/Patient-RyanneBoulderPartner-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Specimen/Specimen-BloodEDTA-Example" />
    </supportingInfo>
    <supportingInfo>
        <reference value="Specimen/Specimen-RyanneBoulderSaliva-Example" />
    </supportingInfo>
    <note>
        <text value="Samples are to be provided at a later date" />
    </note>
    <note>
        <text value="No family history of relevant testing" />
    </note>
    <note>
        <text value="Free text for diagnosis/reason for referral, relevant information including family history, phenotypic details/ HPO Terms/ E.g. large echogenic kidneys with normal bladder" />
    </note>
</ServiceRequest>

Notice

ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example

Propose a change to ServiceRequest-NonWGSTestOrderForm-FetalScenario-Example