This section describes the design approach for Nation Diagnostics - Genetic testing information exchanges.


Genetic testing is used to support many aspects of patient care, including screening, diagnostic testing, treatment advice and the monitoring and management of rare conditions.

The following describes a simplified, generic genetic test request and test report cycle (without any exception or alternative process flows):

  • The Requesting Health Care Professional (HCP) determines that a patient requires a genetic test, for example to aid the diagnosis of a suspected condition or to monitor an existing condition.
  • The Requesting HCP sends a test request to a designated genetic laboratory hub in this Home GLH.
  • The patient provides a specimen.
  • The specimen is collected and sent to the Home GLH.
  • Upon receipt at the Home GLH, the specimen is checked and matched with the test request. The details are recorded in the LIMS.
  • The specimen is prepared, and the test(s) performed.
  • The test report is generated and authorised for release.
  • The test report is sent to the Requesting HCP.
  • The test report is received by the Requesting HCP. -The patient is informed of the test results and, if required, the Requesting HCP takes further action, for example, initiates a course of treatment, requests further tests or refers the patient to a specialist.

There are many possible variations and exceptions to this basic process, including:

  • The type of Requesting Organisation (e.g. primary care, secondary care, community) and the role of the Requesting HCP.
  • The type of care that the patient is receiving e.g. in-patient, out-patient
  • The type and number of required tests.
  • Patient consenting for sharing their genomic data for reasearch purposes.
  • The type and number of required specimens. Depending on the requested tests, a mix of specimen types may be required e.g. blood and biopsy.
  • The organisation and HCP responsible for collecting the specimen and the location, timing and method of collection. In some cases, the Specimen Collecting Organisation and/or HCP may differ from the Requesting Organisation / HCP. For example, in the scenario where a patient is referred by their GP to attend a haematology clinic at a hospital.
  • The method used to transport the specimen(s) to the laboratory.
  • The processes that are used to handle missing or damaged specimens.
  • Whether the Home GLH sends the test request and specimen(s) to another laboratory for analysis. These are known as send-away or referred tests.
  • Whether the Home GLH initiates further tests (using the supplied specimens) based on the results of the requested tests. For example, to provide a clearer interpretation of a result or to confirm a diagnosis. These are known as reflex tests.
  • Whether one or more interim reports are issued before a final report is sent to the Requesting Organisation.

Several key clinical scenarios are documented elsewhere in this guidance. These illustrate some of the variations in process outlined above, together with example test reports.

Genomic Testing - Logical Model

The following diagram describes the logical fhir model for test requests and responses.

The following table summarises each of the core entities:

Entity Name Description
Service Request The focus entity to capture the test request details.
Patient Patient entity representing the details of the patient
Practitioner Test requesting HCP
PractitionerRole HCP role
Organization (S) Requesting organization
Organization (R) Receiving organization i.e. Home GLH
Specimen Details of the specimen
FamilyHistory Patients pedigree information
QuestionaireResponse Addtional information made available as part of specific genetic pathways
Consent Details of the patient consent
Condition Details of the patient condition that triggered the specific genetic test request
Diagnostic Report Output for test including the clinical interpretation
Observation To allow capture information about the genetic reports in structured format