North West Genomic Medicine Service Alliance
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DRAFT Implementation Guide

This is for collaboration and discussion purposes and is subject to change.

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Artifacts Summary

This page provides a list of the FHIR artifacts defined as part of this implementation guide.

Requirements: Actor Definitions

The following artifacts define the types of individuals and/or systems that will interact as part of the use cases covered by this implementation guide.

Automation Manager

Manages the Order. This is the function of Genomic Order Management Service and/or GLH LIMS

Clinical Document

From ISO-13606 The set of information committed to one EHR as a result of a clinical encounter or a record documentation session. Examples of COMPOSITION are Progress note, Laboratory test result form, Radiology report, Referral letter, Clinic visit, Clinic letter, Discharge summary, Functional health assessment, Diabetes review.

Intermediary

North West GLH Regional Integration Engine (RIE) This is a Trust Integration Engine (TIE) working at a regional level

Order Filler

Fulfils the Order. The Order Filler Actor is implemented by laboratory information management systems.

Order Placer

Creates the Order. The Order Placer Actor is implemented by the systems used by the clinical practice.

Order Result Tracker

Allows practitioners to view the Genomics Test Report (e.g. Patient Pass or EPR)

Patient Identity Source

Source of the patient demographics change. The Patient Identity Source is implemented by the systems used for patient administration (e.g. PAS or EPR).

Provider Information Source

Source of the provider information change. The Provider Information Source is implemented by the systems used for patient administration (e.g. PAS or EPR) or Organisation Directories (LDAP/X.500).

Behavior: Capability Statements

The following artifacts define the specific capabilities that different types of systems are expected to have in order to comply with this implementation guide. Systems conforming to this implementation guide are expected to declare conformance to one or more of the following capability statements.

CapabilityStatement for NW GMSA Regional Integration Engine for Genomics

Is based on FHIR Messaging to handle transformation of HL7 FHIR and v2 Messages to FHIR Workflow.

The OpenAPISwagger Definition file below, can be viewed using Swagger Editor

Behavior: Operation Definitions

These are custom operations that can be supported by and/or invoked by systems conforming to this implementation guide.

Process Message

This is documentation on the version of HL7 FHIR process-message to be used for regional FHIR Messaging, this HL7 FHIR definition SHALL be followed.

Behavior: Message Definitions

These define the types of messages that can be sent and/or received by systems conforming to this implementation guide.

Message Definition - Laboratory Order

Command Message

Conversion of HL7 v2.5.1 OML_O21

Message Definition - Patient Encounter

See Patient Encounter Triggers for eventCoding codes.

Event Message

Conversion of

Related to IHE Patient Encounter Management [ITI-31]

Message Definition - Patient Identity

See Patient Identity Triggers for eventCoding codes.

Event Message

Conversion of

Related to IHE Patient Identifier Cross-referencing for mobile (PIXm)

Message Definition - Unsolicited Observation

Document Message

Conversion of HL7 v2.5.1 ORU_R01

Structures: Questionnaires

These define forms used by systems conforming to this implementation guide to capture or expose data to end users.

CBC panel - Blood by Automated count

CBC panel - Blood by Automated count

Comprehensive metabolic 2000 panel - Serum or Plasma

Comprehensive metabolic 2000 panel - Serum or Plasma

Master HL7 genetic variant reporting panel

Master HL7 genetic variant reporting panel

North West Genomics Test Order

NHS England North West Genomics Test Order (Draft)

North West Genomics Test Order Future

THIS IS FOR ANALYSIS, and is not to be used for implementation at present.

The aim of this is to support conversion of multiple Genomic Order Forms HL7 v2 and FHIR.

Structures: Resource Profiles

These define constraints on FHIR resources for systems conforming to this implementation guide.

Binary

TODO

Composition

Placeholder for EU Lab Composition (and so IPS Composition)

Diagnostic Report

Includes constraints from:

See also HL7 Europe Laboratory Report - DiagnosticReport: Laboratory Report

DocumentReference

Based on UK Definitions from IHE Europe Metadata for exchange medical documents and images

Encounter

Includes constraints from:

MessageHeader

DRAFT

Observation

TODO

Observation Diagnostic Implication

Reference:

Observation Panel

See also HL7 Europe Laboratory Report - Observation Results: laboratory

Observation Variant

Reference:

For reference:

OperationOutcome

DRAFT Extension of OperationOutcome

Organization

Includes elements from:

Patient

Includes constraints from:

Practitioner

Includes elements from:

PractitionerRole

TODO

Questionnaire

Initial elaboration extending SDC Questionnaire

QuestionnaireResponse

DRAFT Initial elaboration

ServiceRequest

Includes constraints from:

See also HL7 Europe Laboratory Report - ServiceRequest: Laboratory Order

Specimen

Includes constraints from:

See also HL7 Europe Laboratory Report - Specimen: Laboratory

Task

Based on FHIR Workflow

Structures: Data Type Profiles

These define constraints on FHIR data types for systems conforming to this implementation guide.

Accession Number

Usually assigned by the order filler.

Attachment

DRAFT: Additional conformance on FHIR Attachment data type. In HL7 FHIR this is likely to be a Binary resource and in HL7 v2 the OBX segment. When laboratory reports include a url link in DiagnosticReport, the FHIR Bundle should also include a FHIR DocumentReference providing additional document metadata.

CodeableReference

Backport of FHIR R5 CodeableReference. (copied from BE eHealth Platform Federal Core Profiles). Extension able to hold a reference and a concept (Temporary solution until https://jira.hl7.org/browse/FHIR-44661 is solved and see Zulip: https://chat.fhir.org/#narrow/stream/179280-fhir.2Finfrastructure-wg/topic/Backporting.20CodeableReference)

Correlation Identifier

See Enterprise Integration Patterns - Correlation Identifier and Rule 3: Reference Other Aggregates by Identity (Implementing Domain Driven Design)

England Practitioner Identifier

NHS Data Dictionary CONSULTANT CODE and GENERAL MEDICAL PRACTITIONER PPD CODE.

Episode Number

This is a Correlation Identifier definition compatible with Yorkskhire and Humberside - Interweave-EncounterGrouping

See also 5.6.3 Alternate Visit ID (CX) from NHS England HL7 v2 ADT Message Specification PV1 documentation.

  • an admission
  • an A&E attendance
  • a community contract
  • an outpatient number (note this is not an individual attendance number which is the NHS England HL7 v2 PV1 definition)
Filler Order Number

HL7 v2 Filler Order Number (ORC-3)

Genomics Pedigree Number

TODO

Medical Record Number

Only use in References Data Type if the NHS Number is not known or unverified.

NHS Number

Only traced NHS Number SHOULD be used, un-traced NHS Numbers MUST be clearly indicated.

Organisation Code

NHS Data Dictionary ORGANISATION_CODE

Organisation Site Code

NHS Data Dictionary ORGANISATION SITE IDENTIFIER

Use ODS Site code relevant for organisation. E.g. Use Mid Yorkshire Hospitals NHS Trust (RXF) version of Pinderfields Hospital (RXF05) when referring to Mid Yorks, not others in the director

Placer Group Number

HL7 v2 Placer Group Number (ORC-4)

Placer Order Number

HL7 v2 Placer Order Number (ORC-2)

Structures: Extension Definitions

These define constraints on FHIR data types for systems conforming to this implementation guide.

ExtCodeableReference

(copied from BE eHealth Platform Federal Core Profiles) Extension able to hold a reference and a concept (Temporary solution until https://jira.hl7.org/browse/FHIR-44661 is solved and see Zulip: https://chat.fhir.org/#narrow/stream/179280-fhir.2Finfrastructure-wg/topic/Backporting.20CodeableReference )

Terminology: Value Sets

These define sets of codes used by systems conforming to this implementation guide.

Admission Method

DRAFT

Admission Source

DRAFT

Discharge Destination

DRAFT

Discharge Disposition

DRAFT

DocumentEntry Class
DocumentEntry Type
DocumentEntry mimeType
Ethnicity

This extends UKCoreEthnicCategory to include other categories for reasons stated in Wikipedia: Classification of ethnicity in the United Kingdom See also NHS Data Model and Dictionary ETHNIC CATEGORY

Facility Type

DRAFT

Genomic Cancer Test Directory
Genomic Condition Code

2nd level classification of Genomic Test Directory

Genomic Rare and Inherited Disease Test Directory
NW IdentifierType

IdentifierType work around to bypass lack of NH in based definition

Order Category

Top level classification of Genomic Test Directory

Patient Encounter Trigger

IHE Patient Encounter Management [ITI-31]

Patient Identity Trigger

A28/A31/A40

Practitioner Identifiers

PractitionerIdentifiers

Request Priority

ValueSet for Request Priority

Service

DRAFT

Specialty
Specimen Type

A subset of HL7 Europe Laboratory Report ValueSet: Specimen Types

Yes/No

ValueSet for Yes/No answers

Yes/No/Unknown

ValueSet for Yes/No/Unknown answers

Terminology: Code Systems

These define new code systems used by systems conforming to this implementation guide.

Genomic Condition Code

2nd level Genomic Test Directory Codes

Genomic Test Directory
MFT EPIC Question Ids

Bucket for local codes

NW GMSA Codes

Bucket for local codes

UK Professional License

UK Professional License

Terminology: Concept Maps

These define transformations to convert between codes by systems conforming with this implementation guide.

LOINC to SNOMED UK edition

For demonstration purposes only - THIS HAS NOT BEEN VALIDATED

For Implementation Guide see SNOMED CT Implementation Guide for the LOINC Ontology

SNOMED LOINC edition to SNOMED UK edition

For demonstration purposes only - THIS HAS NOT BEEN VALIDATED

For Implementation Guide see SNOMED CT Implementation Guide for the LOINC Ontology

Example: Example Instances

These are example instances that show what data produced and consumed by systems conforming with this implementation guide might look like.

Bundle 'Event Message' - Patient Update

Influenced by HL7 v2 ADT_A31

Genomic Order Entry Optional Questions

Genomic Order Entry Optional Questions - THIS IS FOR ANALYSIS, and is not to be used for implementation.

Genomic Report BRCA1 Variant Example

Genomic Report BRCA1 Variant Example

Genomic Report Ovarian Carcinoma Diagnostic Implication Example

Genomic Report Ovarian Carcinoma Diagnostic Implication Example

MCV - Mean corpuscular volume

This is based on US Core Example Observation: MCV Example and incorporates extra coding from NHS England Pathology - PATH-R4-10: Bundle Example - Full Blood Count Report

For coding descriptions see

Message Header - Genomic Order Acknowledgement

TODO

Message Header - Genomic Order Acknowledgement

TODO

Message Header - Genomic Report

TODO

Message Header - Patient

TODO

Organization MANCHESTER UNIVERSITY NHS FOUNDATION TRUST

Organization MANCHESTER UNIVERSITY NHS FOUNDATION TRUST

Organization North West GMSA

Organization North West GMSA

Parameters Expansion Profile

Parameters Expansion Profile

Task Genomic Test Completed

TODO

Task Genomic Test Requested

TODO

Example: Laboratory Order

Laboratory Order Examples

Binary Genomic Record of Discussion Example

Genomic Record of Discussion Example

Bundle 'Message' - Genomics Order Acknowledgement

Influenced by HL7 v2 OML_O22

Bundle 'Message' - Genomics Order with Attachment

Influenced by HL7 v2 OML_O21

Bundle 'Message' - Genomics Order with Coded Entries

Influenced by HL7 v2 OML_O21

Bundle 'SearchSet' - Genomics Order

FHIR Message Query Example for use with Asynchronous Message Delivery

Document Reference Laboratory Order

TODO

High level Encounter 'episode/stay' Example

TODO

Message Header - Genomic Order

TODO

Message Header - Genomic Order Acknowledgement

TODO

Order Entry Form Example

TODO

Patient - OctaviaCHISLETT NHS Number: 9449305552

Example NHS England PDS Test Pack

PractitionerRole C3456789 Example

TODO

ServiceRequest Attachment Example

TODO

ServiceRequest Coded Entries Example

TODO

Specimen Example

TODO

Example: Laboratory Report

Laboratory Report Examples

Binary Genomic Report Example

Genomic Report PDF Example

Bundle 'Message' - Genomics Report

Influenced by HL7 v2 ORU_R01

Diagnostic Report Example.

First draft is based on Royal College of Radiologists HL7 v2 ORU converted to HL7 FHIR. Will be converted to a Genomics example

Document Reference Laboratory Report

TODO

Message Header - Genomic Report

TODO

Example: Ask at Order Entry questions and prior results

Ask at Order Entry questions and prior results

Bundle `Document` - Genetic Report

FHIR Document Genetic Report for Jack Dawkins

Composition - Genomics Report Octavia CHISLETT

Composition - Genomics Report Octavia CHISLETT

EPIC-OBR-1 Example

TODO

EPIC-OBX-10 Example

TODO

EPIC-OBX-11 Example

TODO

EPIC-OBX-2 Example

TODO

EPIC-OBX-4 Example

TODO

EPIC-OBX-6 Example

TODO

EPIC-OBX-7 Example

TODO

EPIC-OBX-8 Example

TODO

Genomic Referral Category

TODO

High infection risk sample

TODO

Informed Consent

TODO

OBX Pregnancy

TODO

Supervising Clinician

TODO

Other

These are resources that are used within this implementation guide that do not fit into one of the other categories.

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