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.
Follow-up Testing
The following test types may be requested as an additional or follow up test at the lab. In these instances, the lab acts as the originating requester and may add on additional tests to validate the pathway (these tests may or may not be on the National Genomics Test Directory).
- Confirmatory Test (R443): use of alternative test methods to confirm the conclusions of an original genomic test requested.
- Reflex Test: is the next course of action (new test request) based on the outcome of the original genomic test requested and are related to the outcomes. These tests are internal to the laboratories.
- Lab Recommended Testing: management of situations where the requester has placed a test request however, the lab has replaced the test with a better option or where the optimal test could not be delivered due to sample limitations.
- Re-test: based on quality or a change in what the test provides (panels) and is treated as a new test.
In these instances, existing samples on the patient may be used by the lab to perform additional testing. Note: Existing DNA/RNA, Cultures may be used for testing in the future for unrelated episodes of testing.
Link to the High Fidelity Wireframe for the Non WGS Rare Disease Test Scenario
The following steps is a walk through of a follow up test type (e.g. Reflex Testing) for a patient:
1. Requester searches for a patient (a dummy patient has been pre-populated as an example)
Parameters:
given=Anita
family=Lamberts
birthdate=eq1993-11-14
Response:
Patient-AnitaLambertsDeceasedPatient-Example
2. Requester searches for test directory code
Call to Digital Test Directory (outside scope for GMS central broker)
3. Requester completes test order form and submits request
POST of Test order transaction bundle including ServiceRequest-NonWGSTestOrderForm-FollowupTest-Example
4. Requester indicates that sample is going to be collected at a later date
Indicated through absence of Specimen resource in message or absence of Specimen.collectedDateTime
/Specimen.status=unavailable
The lab recieves the test request and:
1. Views the completed test order form
Obtained through GET /ServiceRequest or /GET Task requests (using parameters on CapabilityStatements to filter results) for non-routed requests. (Dashboard of available requests)
OR
Obtained through GET /Task request (filtered by GLH owner) for routed requests.
Then
GET /Task by Id and referenced ServiceRequest for view of individual.
2. Accepts the test request
PUT of Task-NonWGSRareDiseaseTestOrderAccepted-FollowupTest-Example
3. Lab indicates that further testing is required
This could be added as a note on the original ServiceRequest or Task which prompted further testing.
4. Lab requests a new test (reflex) to aid interpretation
Creation of new ServiceRequest through post of ServiceRequest-NonWGSTestOrderForm-NewFollowupTest-Example
According to scenario, previous test is cancelled (indicated by PUT of Task-NonWGSRareDiseaseTestOrderCancelled-FollowupTest-Example)
5. Lab issues report for patient
Tasks marked as completed Task-NonWGSRareDiseaseTestOrderCompleted-FollowupTest-Example
6. Requester views status and final report
GET of linked DiagnosticReport DiagnosticReport-AnitaLamberts-Example