FHIR Genomics Implementation Guide

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.

Fetus Management

The following scenarios have been captured to indicate various specialist testing scenarios associated with testing for either the mother or the fetus:

Mother is pregnant and testing is on mother (e.g., prenatal testing): The test request is created on the mother’s record and the sample taken is from the mother.
- Confirmation of if the patient has been diagnosed with cancer or is undergoing treatment becomes mandatory
Mother is pregnant and the specialist testing is on the mother (e.g., NIPD): The test request is created on the mother’s record and the sample taken is from the mother.
- Confirmation of if the patient has been diagnosed with cancer or is undergoing treatment becomes mandatory
Mother is pregnant and testing is on the Fetus (e.g., CVS or amnio): The test requested is created on the mother’s record. As part of fetus testing, the following information becomes mandatory:
- the ability to capture test on the fetus (this may differ from local organisation to another and is typically the Mother’s Hospital ID plus indication of fetus ( Ex. WG1342Fetous A)
- The capture of additional information such as foetal phenotypic sex (M/F/U or Unknown) and number of fetuses also becomes mandatory.
- Pregnancy details: capture of Pregnancy type ( Spontaneous conception, Surrogacy, or IVF Pregnancy). If IVF, the capture of own egg/sperm and the age of the egg donor becomes mandatory
- Note: If fetus is under 24 weeks, the sample is from the mother
Mother is pregnant, multiple fetuses and test is completed on each fetus with a result per fetus: An electronic test request is created on the mother’s record. A test request/ sample collection is required for each fetus. Additional mandatory information required includes:
- the ability to capture test on the fetus (this may differ from local organisation to another and is typically the Mother’s Hospital ID plus indication of fetus ( Ex. WG1342Fetous A)
- The capture of additional information such as foetal phenotypic sex (M/F/U or Unknown) and number of fetuses also becomes mandatory.
- Pregnancy details: capture of Pregnancy type (Spontaneous conception, Surrogacy, or IVF Pregnancy). If IVF, the capture of own egg/sperm and the age of the egg donor becomes mandatory
Mother is pregnant and has had a miscarriage: In certain scenarios, where further testing may be required on the fetus to inform the management on future pregnancies, testing may occur on the fetus. A test request is created on the mother’s record with the confirmation of sample collected (if after 24 weeks as skin on cord).

The requirement for electronic test order forms is to allow for configuration of specialist testing requirements and enable the management of samples associated with the fetus. Further input is required from the GMS to confirm the scenario as part of the testing phase within the Alpha.

Link to the High Fidelity Wireframe for the Fetal Scenario

The following steps is a walk through of:

###1. Requester (e.g Midwife) searches for woman (a dummy patient has been pre-populated as an example)

Params:

given=Ryanne
family=Boulder
birthdate=eq1980-09-02

Response:

Patient-RyanneBoulder-Example

2. Requester (e.g. Midwife) to search for approrpiate specialist testing description or code

ServiceRequest.code = R21

3. Requester (e.g.Midwife) completes the Non WGS Rare Disease Test Order Form (with specialist requirement) and submit the request

POST transaction Bundle to GMS baseURL:

Bundle-NonWGSTestOrderForm-FetalScenario-Example

Note: The Test Order is related to Patient-FoetusOfRyanneBoulder-Example with Ryanne Boulder linked to the resource through a RelatedPerson

Response:

OperationOutcome with appropriate success/failure codes: OperationOutcome-SuccessfulValidation-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

Specific Observation, Specimen and Procedure resources related to the above request can be found on the relevant Example pages.

The lab recieves the test request and:

1. Views the completed test order form

Obtained through GET /ServiceRequest or /GET Task requests (using params on CapabilityStatements to filter results) for non-routed requests. (Dashboard of available requests)

Obtained through GET /Task request (filtered by GLH owner) for routed requests.

Then

GET /Task by Id and referenced ServiceRequest for view of individual.