Profiles

The IG pages for the customised resources profiled for use in Genomics are listed below. These pages include the base profiles, any further customised 'constraint' profiles, indicating preferred cardinality for specific elements, as well as additional guidance for population of these resources within a Genomic Test Ordering context.

The rest of the profiles supported within Genomics are listed in CapabilityStatements, which include profiles from NHS England, UKCore and HL7 International. The packages containing these profiles have been added as dependencies within this IG.

The Profiles below are provided to aid creation of FHIR payloads. Additional guidance is provided under certain elements to guide users on how these should be populated.

The profiles below have been categorised based on the Genomics Service/Project they are associated with (and may appear under several headings).

Order Management

Resources associated with Order Management primarily:

Category Profile Description
Core UKCore-ServiceRequest The test order
Core UKCore-Patient The subject of the request
Core UKCore-PractitionerRole The requester/other related practitioners
Core UKCore-Specimen The sample to be analysed
Core Task Used to track/orchestrate work to fulfill an order
Core UKCore-DiagnosticReport The genomic report
Core Bundle Technical resource used for grouping other resources, e.g. test order information as part of a single transaction/searchset
Ancillary UKCore-RelatedPerson Used to link related participants
Ancillary UKCore-Condition Used to capture information on the primary condition being tested for
Ancillary UKCore-Observation Used to record observations made about the patient/sample
Ancillary UKCore-Procedure Used to record procedures the patient has had
Ancillary BodyStructure Used to record further information about a condition/specimen such as mophology/topography
Ancillary Consent Used to wrap the Record of Discussion
Ancillary QuestionnaireResponse Used to record the Record of Discussion as a structured record
Ancillary UKCore-FamilyMemberHistory Used to record the family history/genetic pedigree for a patient
Ancillary Group Used for recording a Pedigree identifier against a family unit, for clinical genetics services
Ancillary Provenance Used when editing an existing request/report to capture rationale for the change
Informational RequestGroup Used for grouping requests for orchestration/linkage purposes
Informational AuditEvent Used by the service for tracing/auditing events
Informational OperationOutcome Technical resource for returning results of an operation/request to the Order Management Service
Informational UKCore-Composition Used for aligning reports to EU-Lab

Unified Genomic Record

Resources associated with the UGR (core resources such as Patient, ServiceRequest etc. have not been duplicated where their usage is the same as above):

Category Profile Description
Core UKCore-Composition The container for the UGR, specifying sections for each of the UGR folders
Core Consent Used for recording consent for sharing of Genomic information for related peoples care
Core UKCore-RelatedPerson Used for linking UGR records
Ancillary DocumentReference Used for referencing Genomic information or other documents as part of the UGR
Ancillary UKCore-FamilyMemberHistory May be used to record family history where related family members do not have their own UGR
Informational Permission (TBC) May be used to record access permissions on UGR records

Digital Genomic Test Services

Resources associated with DGTS (exposed via the FHIR API). Additional information regarding Genomic Test Definitions can be retrieved via the DGTS Web App:

Category Profile Description
Core PlanDefinition Represents the Genomic Test Package
Core ActivityDefinition Represents the Genomic Test
Core SpecimenDefinition The requirements for a sample based on the test being requested
Core Library The additional data requirements an ordering entity needs to submit when requesting a test

Distributed Whole Genome Sequencing

Resources associated with dWGS and related projects, e.g. the Community Cloud PoC and the GDAM API. Related to sharing of raw genomic information and sequencing information:

Category Profile Description
Core DocumentReference The link to the raw genomic data file
Core UKCore-Procedure Represents the analyses performed as part of processing a sample
Core Device The hardware/software used to perform the analyses
Core UKCore-Specimen The specimen (including raw, extracted DNA, or derived samples) upon which the analysis was perfomed

All Profiles