NHS North West Genomics
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Domain Archetypes Introduction

Overview

Patient AdministrationPatient (PID)Hospital Spell (PV1)Related Person (NK1)Care DirectoryOrganisationPractitionerPractitioner RoleDiagnosticDiagnostic WorkflowLaboratory Test Order (OML_O21)Genomic Test OrderService Request (ORC)Laboratory Test Report (ORU_R01)Genomic Test ReportDiagnostic Report (OBR)TaskBiopsy / Sample CollectionSpecimen (SPM)Observation (OBX)Genomic ObservationDiagnostic Procedure (PR1)Genomic ProcedureDocument Reference (OBX and XDS Document Entry)Patient Care (Summary)Condition (DG1Procedure (PR1)Family Member HistoryPedigree

Diagnostic Workflow - MindMap


This implementation guide primarily focuses on the Diagnostic Workflow and how it integrates within the broader health data model, as illustrated in the diagram above.

  • Patient Care and Patient Administration are typically found in NHS providers Electronic Patient Record systems
  • Care Directory Services on the other hand, are centrally defined by NHS England, with supporting APIs also provided by NHS England (for example, the ODS API).

In software design, these areas are often referred to as domains. The Genomic Diagnostic Workflow operates across several of these domains — in software architecture terms, this is known as a bounded context.

Domain Archetype

This section of the guide explores the concept of a Domain Archetype — a notion that connects ideas from health informatics, data architecture, and information science with domain-driven design entity models.

To align these perspectives, this guide defines the following relationship:

---
title: Archetype and Entites (Resource)
---
erDiagram
    DomainArchetype ||--|{ DomainEntity : hasMany
    DomainArchetype ||--|{ Archetype : hasMany
    Archetype ||..|| DomainEntity : canBeSame
    DomainEntity }|--|| DomainEvent : ideallyOne

The Domain Archetype concept originates from Data Mesh principles and serves as a bridge between data architecture and software architecture.

A Domain Archetype may encompass multiple Archetypes and Domain Entities. An Archetype and a Domain Entity can represent the same concept. A Domain Event reflects key interactions in Domain-Driven Design; ideally, each archetype or entity should correspond to a single Domain Event, since handling multiple events can lead to architectural anti-patterns - We should use event-driven message feeds rather than relying on batch data transfers (messages) or the physical exchange of compositions.

Domain Archetype Archetype Domain Entity Domain Event
Laboratory Report HL7 Lab Results Interface (extends HL7 v2 ORU_R01) HL7 v2 Segment HL7 v2 Event Message
Laboratory Order and Report Genomic Reporting - HL7 FHIR Profile HL7 FHIR Resource FHIR Workflow
  Genomic Module - openEHR Archetype    

In genomics, all these archetype definitions are interrelated and designed to be mutually compatible.

Diagnostic Report

Diagnostic Testing Bounded Contexts

Diagnostic Testing Bounded Contexts


Genomic Observation

Genomic Procedure

Genomic Ordering and Reporting (Right Side)

Genomic Archetype OverviewGenomic Archetype Overview «aggregate»Genomic Test Order «aggregate»Genomic Test Report «aggregate»Pedigree 0..*

Archetypes High Level Model


This domain focuses on genomic and molecular diagnostics, the data modeling here is Archetypes or templates.

  • Genomic Test Order
  • Genomic Test Report – Summarizes genomic testing results.
    • Variant – Represents a specific genetic variant or mutation.
    • Diagnostic Implication – Links variants to clinical significance (e.g., pathogenicity, treatment implications).
    • The relationships show that a Genomic Report contains Variants, which in turn have Diagnostic Implications.
    • This domain also connects to the Diagnostic Report in the core