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
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