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.

Instance

REST Capabilities Server

Mode	Server
Documentation	RESTful endpoints supported by the Genomic Medicine Service

Security

Service

OAuth2 Token

Resource Interactions

Resource Type	Profile	Read	SearchType	Create	Vread	Update	Patch	Delete	HistoryInstance	ConditionalCreate
AuditEvent	AuditEvent	✓	✓
Bundle	Bundle			✓						✓
CodeSystem	CodeSystem	✓	✓
ConceptMap	ConceptMap	✓	✓
HealthcareService	UK Core HealthcareService	✓	✓	✓	✓	✓	✓	✓	✓	✓
MessageDefinition	MessageDefinition	✓	✓
NamingSystem	NamingSystem	✓	✓
Parameters	Parameters
StructureMap	StructureMap	✓	✓
ValueSet	ValueSet	✓	✓
MessageHeader	MessageHeader	✓	✓	✓						✓
Subscription	Subscription	✓	✓	✓	✓	✓	✓	✓	✓	✓
CapabilityStatement	CapabilityStatement	✓	✓
Task	Task	✓	✓	✓	✓	✓	✓	✓	✓	✓
ServiceRequest	UK Core ServiceRequest	✓	✓	✓	✓	✓	✓	✓	✓	✓
PractitionerRole	UK Core PractitionerRole	✓	✓	✓	✓	✓	✓	✓	✓	✓
Practitioner	UK Core Practitioner	✓	✓	✓	✓	✓	✓	✓	✓	✓
Organization	UK Core Organization	✓	✓	✓	✓	✓	✓	✓	✓	✓
DiagnosticReport	UK Core DiagnosticReport	✓	✓	✓	✓	✓	✓	✓	✓	✓
FamilyMemberHistory	UKCore FamilyMemberHistory	✓	✓	✓	✓	✓	✓	✓	✓	✓
Observation	UK Core Observation	✓	✓	✓	✓	✓	✓	✓	✓	✓
Patient	UK Core Patient	✓	✓	✓	✓	✓	✓	✓	✓	✓
Consent	Consent	✓	✓	✓	✓	✓	✓	✓	✓	✓
Condition	UK Core Condition	✓	✓	✓	✓	✓	✓	✓	✓	✓
ResearchSubject	ResearchSubject
RelatedPerson	NHSDigital_RelatedPerson_Genomics	✓	✓	✓	✓	✓	✓	✓	✓	✓
Specimen	UK Core Specimen	✓	✓	✓	✓	✓	✓	✓	✓	✓
Questionnaire	Questionnaire	✓	✓
QuestionnaireResponse	QuestionnaireResponse	✓	✓	✓	✓	✓	✓	✓	✓	✓
OperationDefinition	https://hl7.org/fhir/StructureDefinition/OperationDefinition
OperationOutcome	OperationOutcome	✓	✓
BodyStructure	BodyStructure	✓	✓	✓	✓	✓	✓	✓	✓	✓
Provenance	Provenance	✓	✓

Search Parameters per resource type

AuditEvent

Name	Type	Level
action	token	Supported
agent	reference	Supported
date	date	Supported
entity	reference	Supported
outcome	token	Supported
patient	reference	Supported

Bundle

No search parameters are stated for this resource type

CodeSystem

Name	Type	Level
code	token	Supported
context	token	Supported
description	string	Supported
identifier	token	Supported
name	string	Supported
system	uri	Supported
title	string	Supported

ConceptMap

Name	Type	Level
context	token	Supported
description	string	Supported
identifier	token	Supported
name	string	Supported
source-system	uri	Supported
target-system	uri	Supported
title	string	Supported

HealthcareService

Name	Type	Level
coverage-area	reference	Supported
endpoint	reference	Supported
identifier	token	Supported
name	string	Supported
location	reference	Supported
organization	reference	Supported
service-category	token	Supported
service-type	token	Supported
specialty	token	Supported

MessageDefinition

Name	Type	Level
description	string	Supported
identifier	token	Supported
name	string	Supported
focus	token	Supported
title	string	Supported

NamingSystem

Name	Type	Level
context	token	Supported
description	string	Supported
name	string	Supported

Parameters

No search parameters are stated for this resource type

StructureMap

Name	Type	Level
context	token	Supported
description	string	Supported
identifier	token	Supported
name	string	Supported

ValueSet

Name	Type	Level
code	token	Supported
context	token	Supported
description	string	Supported
identifier	token	Supported
name	string	Supported
title	string	Supported

MessageHeader

Name	Type	Level
code	token	Supported
destination	string	Supported
destination-uri	uri	Supported
focus	reference	Supported
sender	reference	Supported
source	string	Supported
source-uri	uri	Supported

Subscription

Name	Type	Level
contact	token	Supported
criteria	string	Supported
status	token	Supported
type	token	Supported
url	uri	Supported

CapabilityStatement

Name	Type	Level
description	string	Supported
format	token	Supported
mode	token	Supported
name	string	Supported
resource	token	Supported
resource-profile	reference	Supported
title	string	Supported

Task

Name	Type	Level
based-on	reference	Supported
business-status	token	Supported
code	token	Supported
focus	reference	Supported
modified	date	Supported
owner	reference	Supported
subject	reference	Supported
performer	token	Supported
period	date	Supported
priority	token	Supported
requester	reference	Supported
status	token	Supported

ServiceRequest

Name	Type	Level
based-on	reference	Supported
category	token	Supported
code	token	Supported
identifier	token	Supported
intent	token	Supported
subject	reference	Supported
performer	reference	Supported
performer-type	token	Supported
priority	token	Supported
replaces	reference	Supported
requester	reference	Supported
specimen	reference	Supported
status	token	Supported

PractitionerRole

Name	Type	Level
endpoint	reference	Supported
identifier	token	Supported
organization	reference	Supported
practitioner	reference	Supported
specialty	token	Supported
telecom	token	Supported

Practitioner

Name	Type	Level
name	string	Supported
identifier	token	Supported

Organization

Name	Type	Level
address	string	Supported
endpoint	reference	Supported
identifier	token	Supported
name	string	Supported
partof	reference	Supported
type	token	Supported

DiagnosticReport

Name	Type	Level
based-on	reference	Supported
category	token	Supported
code	token	Supported
conclusion	token	Supported
date	date	Supported
identifier	token	Supported
issued	date	Supported
subject	reference	Supported
performer	reference	Supported
result	reference	Supported
results-interpreter	reference	Supported
specimen	reference	Supported
status	token	Supported

FamilyMemberHistory

Name	Type	Level
code	token	Supported
date	date	Supported
identifier	token	Supported
patient	reference	Supported
relationship	token	Supported
sex	token	Supported
status	token	Supported

Observation

Name	Type	Level
based-on	reference	Supported
category	token	Supported
code	token	Supported
component-code	token	Supported
data-absent-reason	token	Supported
date	date	Supported
focus	reference	Supported
identifier	token	Supported
subject	reference	Supported
performer	reference	Supported
specimen	reference	Supported
value-string	string	Supported
status	token	Supported

Patient

Name	Type	Level
address	string	Supported
birthdate	date	Supported
death-date	token	Supported
gender	token	Supported
general-practitioner	reference	Supported
identifier	token	Supported
link	reference	Supported
name	string	Supported
organization	reference	Supported
telecom	token	Supported

Consent

Name	Type	Level
action	token	Supported
actor	reference	Supported
category	token	Supported
consentor	reference	Supported
identifier	token	Supported
organization	reference	Supported
patient	reference	Supported
period	date	Supported

Condition

Name	Type	Level
asserter	reference	Supported
category	token	Supported
clinical-status	token	Supported
code	token	Supported
identifier	token	Supported
onset-info	string	Supported
subject	reference	Supported
recorded-date	date	Supported
severity	token	Supported
stage	token	Supported
verification-status	token	Supported

ResearchSubject

No search parameters are stated for this resource type

RelatedPerson

Name	Type	Level
patient	reference	Supported
relationship	token	Supported

Specimen

Name	Type	Level
accession	token	Supported
bodysite	token	Supported
collected	date	Supported
collector	reference	Supported
container-id	token	Supported
identifier	token	Supported
parent	reference	Supported
subject	reference	Supported
status	token	Supported
type	token	Supported

Questionnaire

Name	Type	Level
date	date	Supported
description	string	Supported
effective	date	Supported
identifier	token	Supported
name	string	Supported
status	token	Supported
title	string	Supported
version	token	Supported

QuestionnaireResponse

Name	Type	Level
author	reference	Supported
authored	date	Supported
identifier	token	Supported
subject	reference	Supported
questionnaire	reference	Supported
source	reference	Supported
status	token	Supported

OperationDefinition

No search parameters are stated for this resource type

OperationOutcome

No search parameters are stated for this resource type

BodyStructure

Name	Type	Level
identifier	token	Supported
location	token	Supported
morphology	token	Supported
patient	reference	Supported

Provenance

Name	Type	Level
agent	reference	Supported
entity	reference	Supported
target	reference	Supported
recorded	date	Supported

Messaging Capabilities

Protocol	Address
HTTP	https://[baseUrl]/$process-message

Documentation

Endpoint which accepts test order and result message bundles. The server saves the whole message as well as splitting the message into its individual resources for ease of updating through RESTful interactions

Mode	Supported Message
Receiver	MessageDefinition
Receiver	genomictestresponse