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.

MessageDefinition-Genomic-Test-Request
MessageDefinition-Genomic-Test-Response

MessageDefinitions

The MessageDefinitions created specifically for use in Genomics for fully specifying initial Test Orders and returning Genomic Reports are listed below. The use of messages vs. RESTful interactions within the Genomic Medicine Service is currently being reviewed. As such, the resources listed below are subject to change.

Currently, the Central service is adopting a RESTful approach to resource interaction, meaning test order bundles are expected to be transactions composed of a series of individual operations, as opposed to messages. As such the below MessageDefinitions are provided for information only, for users to confirm which resources are expected within a given interaction.

MessageDefinitions

MessageDefinition-genomic-test-request

Message Definition for submitting a Genomics Test Order via a FHIR Message mechanism, for information only.

The NHS England Genomics Unit is investigating requesting and reporting via FHIR Messaging to align with existing vendor capabilities, and to consolidate approaches for proactive report forwarding between Pathology and Genomics.

The Genomics Unit invites parties interested in providing requirements or testing messaging solutions to get in touch with the the NHS England team via email: england.genomics@nhs.net

GET [base]/$process-message

HTML View

Title	Genomic Test Request
Event	genomictestrequest (MessageEventsGenomics)

Focus

Code	Profile	Cardinality
ServiceRequest	NHSDigital_ServiceRequest_Genomics	1..*
Subscription	UKCoreSubscription	0..*
FamilyMemberHistory	UKCoreFamilyMemberHistory	0..*
Observation	NHSDigital_Observation_Genomics	0..*
Consent	NHSDigital_Consent_Genomics	0..1
QuestionnaireResponse	QuestionnaireResponse	0..1
Condition	NHSDigital_Condition_Genomics	0..*
RelatedPerson	UKCoreRelatedPerson	0..*
BodyStructure	BodyStructure	0..*

Table View

MessageDefinition.id[0]	genomictestrequest
MessageDefinition.url[0]	https://fhir.nhs.uk/MessageDefinition/genomic-test-request
MessageDefinition.version[0]	0.1.0
MessageDefinition.name[0]	GenomicTestRequest
MessageDefinition.title[0]	Genomic Test Request
MessageDefinition.status[0]	draft
MessageDefinition.date[0]	2022-11-25
MessageDefinition.description[0]	Message Definition for a Genomic ServiceRequest
MessageDefinition.event[0].system[0]	https://fhir.nhs.uk/CodeSystem/message-events-genomics
MessageDefinition.event[0].code[0]	genomictestrequest
MessageDefinition.focus[0].code[0]	ServiceRequest
MessageDefinition.focus[0].profile[0]	https://fhir.nhs.uk/StructureDefinition/NHSDigital-ServiceRequest-Genomics
MessageDefinition.focus[0].min[0]	1
MessageDefinition.focus[0].max[0]	*
MessageDefinition.focus[1].code[0]	Subscription
MessageDefinition.focus[1].profile[0]	https://fhir.hl7.org.uk/StructureDefinition/UKCore-Subscription
MessageDefinition.focus[1].min[0]	0
MessageDefinition.focus[1].max[0]	*
MessageDefinition.focus[2].code[0]	FamilyMemberHistory
MessageDefinition.focus[2].profile[0]	https://fhir.hl7.org.uk/StructureDefinition/UKCore-FamilyMemberHistory
MessageDefinition.focus[2].min[0]	0
MessageDefinition.focus[2].max[0]	*
MessageDefinition.focus[3].code[0]	Observation
MessageDefinition.focus[3].profile[0]	https://fhir.nhs.uk/StructureDefinition/NHSDigital-Observation-Genomics
MessageDefinition.focus[3].min[0]	0
MessageDefinition.focus[3].max[0]	*
MessageDefinition.focus[4].code[0]	Consent
MessageDefinition.focus[4].profile[0]	https://fhir.nhs.uk/StructureDefinition/NHSDigital-Consent-Genomics
MessageDefinition.focus[4].min[0]	0
MessageDefinition.focus[4].max[0]	1
MessageDefinition.focus[5].code[0]	QuestionnaireResponse
MessageDefinition.focus[5].profile[0]	http://hl7.org/fhir/StructureDefinition/QuestionnaireResponse
MessageDefinition.focus[5].min[0]	0
MessageDefinition.focus[5].max[0]	1
MessageDefinition.focus[6].code[0]	Condition
MessageDefinition.focus[6].profile[0]	https://fhir.nhs.uk/StructureDefinition/NHSDigital-Condition-Genomics
MessageDefinition.focus[6].min[0]	0
MessageDefinition.focus[6].max[0]	*
MessageDefinition.focus[7].code[0]	RelatedPerson
MessageDefinition.focus[7].profile[0]	https://fhir.hl7.org.uk/StructureDefinition/UKCore-RelatedPerson
MessageDefinition.focus[7].min[0]	0
MessageDefinition.focus[7].max[0]	*
MessageDefinition.focus[8].code[0]	BodyStructure
MessageDefinition.focus[8].profile[0]	http://hl7.org/fhir/StructureDefinition/BodyStructure
MessageDefinition.focus[8].min[0]	0
MessageDefinition.focus[8].max[0]	*

XML View

</eventCoding>

<focus>

<code value="ServiceRequest" />
<profile value="https://fhir.nhs.uk/StructureDefinition/NHSDigital-ServiceRequest-Genomics" />
<min value="1" />
<max value="*" />

</focus>

<focus>

<code value="Subscription" />
<profile value="https://fhir.hl7.org.uk/StructureDefinition/UKCore-Subscription" />
<min value="0" />
<max value="*" />

</focus>

<focus>

<code value="FamilyMemberHistory" />
<profile value="https://fhir.hl7.org.uk/StructureDefinition/UKCore-FamilyMemberHistory" />
<min value="0" />
<max value="*" />

</focus>

<focus>

<code value="Observation" />
<profile value="https://fhir.nhs.uk/StructureDefinition/NHSDigital-Observation-Genomics" />
<min value="0" />
<max value="*" />

</focus>

<focus>

<code value="Consent" />
<profile value="https://fhir.nhs.uk/StructureDefinition/NHSDigital-Consent-Genomics" />
<min value="0" />
<max value="1" />

</focus>

<focus>

<code value="QuestionnaireResponse" />
<profile value="http://hl7.org/fhir/StructureDefinition/QuestionnaireResponse" />
<min value="0" />
<max value="1" />

</focus>

<focus>

<code value="Condition" />
<profile value="https://fhir.nhs.uk/StructureDefinition/NHSDigital-Condition-Genomics" />
<min value="0" />
<max value="*" />

</focus>

<focus>

<code value="RelatedPerson" />
<profile value="https://fhir.hl7.org.uk/StructureDefinition/UKCore-RelatedPerson" />
<min value="0" />
<max value="*" />

</focus>

<focus>

<code value="BodyStructure" />
<profile value="http://hl7.org/fhir/StructureDefinition/BodyStructure" />
<min value="0" />
<max value="*" />

</focus>

</MessageDefinition>

JSON View

{

"resourceType": "MessageDefinition",
"id": "genomictestrequest",
"url": "https://fhir.nhs.uk/MessageDefinition/genomic-test-request",
"name": "GenomicTestRequest",
"title": "Genomic Test Request",
"description": "Message Definition for a Genomic ServiceRequest",
"status": "draft",
"date": "2022-11-25",
"version": "0.1.0",
"eventCoding": {
"system": "https://fhir.nhs.uk/CodeSystem/message-events-genomics",
"code": "genomictestrequest"
},
"focus": [
{
"code": "ServiceRequest",
"profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-ServiceRequest-Genomics",
"min": 1,
"max": "*"
},
{
"code": "Subscription",
"profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Subscription",
"min": 0,
"max": "*"
},
{
"code": "FamilyMemberHistory",
"profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-FamilyMemberHistory",
"min": 0,
"max": "*"
},
{
"code": "Observation",
"profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Observation-Genomics",
"min": 0,
"max": "*"
},
{
"code": "Consent",
"profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Consent-Genomics",
"min": 0,
"max": "1"
},
{
"code": "QuestionnaireResponse",
"profile": "http://hl7.org/fhir/StructureDefinition/QuestionnaireResponse",
"min": 0,
"max": "1"
},
{
"code": "Condition",
"profile": "https://fhir.nhs.uk/StructureDefinition/NHSDigital-Condition-Genomics",
"min": 0,
"max": "*"
},
{
"code": "RelatedPerson",
"profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-RelatedPerson",
"min": 0,
"max": "*"
},
{
"code": "BodyStructure",
"profile": "http://hl7.org/fhir/StructureDefinition/BodyStructure",
"min": 0,
"max": "*"
}
]

}

Propose a change to MessageDefinition-genomic-test-request

MessageDefinition-genomic-test-response

Message Definition for Genomics Test Report, if sent via a FHIR Message mechanism, for information only.

The Genomics Unit invites parties interested in providing requirements or testing messaging solutions to get in touch with the the NHS England team via email: england.genomics@nhs.net

GET [base]/$process-message

HTML View

Title	Genomic Test Response
Event	genomictestresponse (MessageEventsGenomics)

Focus

Code	Profile	Cardinality
DiagnosticReport	UKCoreDiagnosticReport	1..*
Subscription	UKCoreSubscription	0..*

Table View

MessageDefinition.id[0]	genomictestresponse
MessageDefinition.url[0]	https://fhir.nhs.uk/MessageDefinition/genomic-test-response
MessageDefinition.version[0]	0.1.0
MessageDefinition.name[0]	GenomicTestResponse
MessageDefinition.title[0]	Genomic Test Response
MessageDefinition.status[0]	draft
MessageDefinition.date[0]	2022-11-25
MessageDefinition.description[0]	Message Definition for a Genomic DiagnosticReport
MessageDefinition.event[0].system[0]	https://fhir.nhs.uk/CodeSystem/message-events-genomics
MessageDefinition.event[0].code[0]	genomictestresponse
MessageDefinition.focus[0].code[0]	DiagnosticReport
MessageDefinition.focus[0].profile[0]	https://fhir.hl7.org.uk/StructureDefinition/UKCore-DiagnosticReport
MessageDefinition.focus[0].min[0]	1
MessageDefinition.focus[0].max[0]	*
MessageDefinition.focus[1].code[0]	Subscription
MessageDefinition.focus[1].profile[0]	https://fhir.hl7.org.uk/StructureDefinition/UKCore-Subscription
MessageDefinition.focus[1].min[0]	0
MessageDefinition.focus[1].max[0]	*

XML View

<id value="genomictestresponse" />
<url value="https://fhir.nhs.uk/MessageDefinition/genomic-test-response" />
<version value="0.1.0" />
<name value="GenomicTestResponse" />
<title value="Genomic Test Response" />
<status value="draft" />
<date value="2022-11-25" />
<description value="Message Definition for a Genomic DiagnosticReport" />
<eventCoding>
<system value="https://fhir.nhs.uk/CodeSystem/message-events-genomics" />
<code value="genomictestresponse" />
</eventCoding>
<focus>
<code value="DiagnosticReport" />
<profile value="https://fhir.hl7.org.uk/StructureDefinition/UKCore-DiagnosticReport" />
<min value="1" />
<max value="*" />
</focus>
<focus>
<code value="Subscription" />
<profile value="https://fhir.hl7.org.uk/StructureDefinition/UKCore-Subscription" />
<min value="0" />
<max value="*" />
</focus>

</MessageDefinition>

JSON View

{

"resourceType": "MessageDefinition",
"id": "genomictestresponse",
"url": "https://fhir.nhs.uk/MessageDefinition/genomic-test-response",
"name": "GenomicTestResponse",
"title": "Genomic Test Response",
"description": "Message Definition for a Genomic DiagnosticReport",
"status": "draft",
"date": "2022-11-25",
"version": "0.1.0",
"eventCoding": {
"system": "https://fhir.nhs.uk/CodeSystem/message-events-genomics",
"code": "genomictestresponse"
},
"focus": [
{
"code": "DiagnosticReport",
"profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-DiagnosticReport",
"min": 1,
"max": "*"
},
{
"code": "Subscription",
"profile": "https://fhir.hl7.org.uk/StructureDefinition/UKCore-Subscription",
"min": 0,
"max": "*"
}
]

}

Notice

MessageDefinitions

MessageDefinition-genomic-test-request

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MessageDefinition-genomic-test-response

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