NHS North West Genomics, published by NHS North West Genomics. This guide is not an authorized publication; it is the continuous build for version 0.0.8 built by the FHIR (HL7® FHIR® Standard) CI Build. This version is based on the current content of https://github.com/nw-gmsa/nw-gmsa.github.com/ and changes regularly. See the Directory of published versions

Domain Archetypes Introduction

The data model is divided into four main contexts (bounded areas):

• Laboratory and Pathology Reporting
• Genomic Reporting (focus of this guide)
• Imaging Reporting
• Diagnostic Testing Core (central integration context)

Diagnostic Testing Bounded Contexts

Diagnostic Testing Core (Center)

This is the core shared context that links the other three domains; the data modeling is based on Domain Entities or resources. It includes common HL7 v2 and FHIR elements used across diagnostic workflows:

• Patient – (HL7 v2 PID): Represents patient demographic and identification data.
• Case / Spell – (HL7 FHIR Encounter and v2 PV1): Represents the clinical encounter or episode of care.
• Diagnostic Report – (HL7 v2 OBR): The core diagnostic report entity summarizing results.
• Specimen – (HL7 v2 SPM): Represents the collected specimen or sample.
• Diagnostic Order – (HL7 FHIR ServiceRequest and v2 ORC): Represents orders or requests for diagnostic services.
• Results are specific to each subdomain. An overview of Genonic results is described in the next section.

These core components enable interoperability and data exchange among different reporting domains.

Note: Patient and Case/Spell are logically part of a Patient Administration domain.

Genomic Ordering and Reporting (Right Side)

Archtypes 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