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.
Release notes
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Users may also choose to subscribe to resource changes and new issues by subscribing directly on the Genomics project on Simplifier.net to receive digest mail for updates.
0.5.1
Date released: 26/01/2026
- Updates to IG to support Order Management Private Beta (closed issues addressed by this release can be found on the project issue list, closed between 30/10/2025 and 26/01/2026)
- Breaking change Updated models for recording Duo/Trio tests, following multidisciplinary workshops, including updated scenarios (Duo/Trio testing and Fetus Management), GraphDefinitions and examples, utilising RequestGroup resource and patientRole extension on ServiceRequest
- Breaking change Alignment to MDS v1.05 (including updated Clinical Headings mappings and Examples)
- Updates to recording of Specimen collection site where this is from a metastasised tumour
- Placeholder pages for Unified Genomic Record (UGR) assets and guidance
- Addition of Assets and Guidance to support FHIR (Digital Genomic Test Services (DGTS) API, including interactions between DGTS and Order Management such as NamingSystems for DGTS codes
- MDSv1.05 CodeSystem for tagging observations and ServiceRequest notes with corresponding MDS question, see examples
- Draft GenomicStudy and GenomicStudyAnalysis examples to support Bioinformatics Community Cloud project
- Draft ValueSet to support FH reporting using SNOMED CT codes
- Draft StructureMap for translation from PGx Test Result OpenEHR Archetype to FHIR
Further updates to be performed in future iterations
- New CodeSystems and ValueSets to support updated elements from MDS v1.05 (including SNOMED CT concept mappings)
- Updates to recording of Specimen collection site where this is from a metastasised tumour
- Creation of a Questionnaire representation of the Test Order dataset, to support consistent form creation within supplier systems
- Additional examples and guidance for UGR assets such as Compositions
- Additional assets/mappings for Structured Reporting (including Bioinformatics metadata)
0.5.0
Date released: 30/10/2025
- Updates to IG based on feedback during Alpha and Alpha-Beta transition phase (closed issues addressed by this release can be found on the project issue list, opened between 30/09/2024 and 30/10/2025)
- Breaking change to mapping of Reason for Testing and Reason for Reanalysis (now moved to ServiceRequest.category)
- Breaking change to recording of Proband for Fetal requests (see Fetus Management Clinical Scenario for details)
- Breaking change to ConceptMaps for MDS elements mapped to SNOMED CT
- Breaking change to mapping of Pedigree Number (now moved to Group resource)
- Uplift to later version of UK Core
- Added Guidance on how Draft order should be supported
- CodeSystem for tagging resources with the MDS field they are in response to, via
meta.tag - Added an Extension for recording the version of a Code (as opposed to version of a System) for use with PanelApp/DGTS codes
- Guidance regarding when prior specimens or requests should be referenced from follow-on tests, on the ServiceRequest profile page
- Added GEL trigger points to Interaction page
- Added information on handling of restricted/sensitive patients
- Added high level mappings to OMOP
- Additional scenario for WGS Cancer, including Tumour First, Germline Late model
- Additional details on terminology validation
- Page added for mapping of MDS fields to SNOMED terms and ConceptMaps
- Considerations for how binary files including PDF reports should be managed by the central service, e.g. on searches
- Added guidance regarding Purpose-Based Access Control for UGR
- Added guidance on how usage of RelatedPerson differs from PDS
- Added Consent and Data Sharing use cases for UGR
- Clarification of guidance for population of elements on profile pages
- Removal of references to UK Core where profiles had been removed in STU3
- Alignment of Composition to HL7 EU Lab
- Additional Guidance to support Structured Reporting on DiagnosticReport and DocumentReference, as well as examples aligned with the HL7 Genomic Reporting IG
- Guidance and Examples to support the Genomic Data and Access Management API (DocumentReference resources for genomic data files)
- Addition of fetalStatus extension guidance
- Guidance on systems to be used for national practitioner identifiers
- Guidance on AnnotationType extension for ServiceRequest.note
- Guidance on barcode identifier matching for Specimen resources
- Guidance on usage of Other in CodeableConcepts alongside CodeableConcept.text, specifically when a local code is not within the bound ValueSet
- Additional ConceptMaps for fields mapped to SNOMED CT, e.g. Chromosomal Sex
- Additional examples covering common scenarios
- NamingSystems for broker assigned Report and Specimen identifiers
- Updated guidance for elements to be populated on Condition for suspected diagnosis
- Reintroduction of the MessageDefinitions for Requests and Reports, for investigation during the Order Managment Private Beta
- Various typo/bug fixes
Further updates to be performed in minor iterations
- Alignment to MDS v1.05 (including updated Clinical Headings mappings and Examples)
- Updates to recording of Specimen collection site where this is from a metastasised tumour
- Updates to the modelling of TKI Therapy and Treatment Free Remission, following clinical input
- Updated models for recording Duo/Trio tests, following multidisciplinary workshops
- Creation of a Questionnaire representation of the Test Order dataset, to support consistent form creation within supplier systems
- Additional examples and guidance for UGR assets such as Compositions
- Models and interactions between DGTS and Order Management
0.4.3
Date released: 03/01/2025
- Updates to Specimen ConceptMaps
- Updated dependency to latest UK Core package to pick up changes to Sample State CodeSystem
- Removed incorrect Observations for Risk of Infection (captured under Specimen) and Disease Status (replaced with Condition)
- Correction to targeting of UK Core profiles
- Addition of Patient examples for no NHS number and where demographics are recorded on PDS
0.4.2
Date released: 01/10/2024
- Update to UK Core dependency with fixes to FundingCategory and SampleCategory CodeSystems and ConditionBodyStructure Extension
0.4.1
Date released: 30/09/2024
- Updates to IG based on feedback during Alpha broker development (closed issues addressed by this release can be found on the project issue list, opened between 01/03/2024 and 30/09/2024)
- Major changes to modelling
- Fixed referencing issues between resources and incorrect modelling of concepts, e.g. consanguinity, absence of an observation, HPO etc.
- Updated guidance to reflect modelling issues above
- Addition of SearchParamaters and GraphDefinitions, and associated IG pages
- Addition of ConceptMaps, CodeSystems, ValueSets and NamingSystems to align with MDSv1.04
- Addition of guidance to support UGR use cases, including addition of DocumentReference and Operations
- Further guidance and assets to illustrate CRUD capabilities and responses
- Updated dependency to UK Core STU3 and updated concept codes to align with latest release of SNOMED CT
- Developed guidance for Task/Specimen status, businessStatus, input and output population
0.3.2
Date released: 12/04/2024
- Update to dependencies, removal of dependency on NHSDigital package
- Addition of Task.input/output elements referencing Specimen resources in examples
0.3.1
Date released: 14/03/2024
- Minor update to dependencies (breaking change to modelling of Extension-UKCore-BirthSex on UKCore-Patient)
0.3.0
Date released: 01/03/2024
- Updates to IG based on responses to review for v0.2.0 (closed issues addressed by this release can be found on the project issue list, opened between 06/10/2023 and 01/03/2024)
- Additional guidance on design pages on interactions with the Genomic Order Management Broker
- Additional guidance on profile pages providing guidance on population of elements
- Additional Clinical Scenarios outside of 'happy path' WGS and non-WGS workflows and addition of associated FHIR examples
- Alignment of Task CodeSystems with NGTP
- Update of IG template to new NHS England branding
0.2.0
Date released: 06/10/2023
- Dependencies updated to UK Core STU2 Ballot pre-release package
- Removal of resources which have been promoted to UK Core
- Addition of HL7v2 mapping for minimum data set
- Addition of WGS and non-WGS Rare and Inherited Disease Scenarios
0.1.0
Date released: 27/03/2023
- Initial draft of the Genomics Implementation Guide
- Logical model currently profiled into specific Genomics resources, these will be merged into NHS Digital in a future release
- This version has not gone through Clinical and Technical assurance