UK Core Clinical and Technical Assurance Sprint 6 Documentation Pack

UK Core Clinical and Technical Assurance Sprint 6 Documentation Pack

Genomic Medicine Service

The purpose of this project is to introduce digital interoperability via data standardisation and technical infrastructure improvements to the genomic test ordering pathway of the genomic medicine service. The Implementation will impact all genomic tests found in the national genomic test directory. Additionally, this will support the piloting of the messaging standard HL7 FHIR.

See here for a link to the Sprint 6 Genomic Medicine Service slides.

Benefits of the Genomic Medicine Service

The project would deliver the following unquantified benefits:

  1. Accelerate the adoption of genomics in mainstream clinical areas.
  2. Improve data sharing via digital interoperability.
  3. Drive efficiency in the genomic testing pathway by removing the need to transcribe paper-based order forms, in favour of electronic ordering.
  4. Improve and enhance the information available to stakeholders for the purpose of tracking samples and querying the test stage status.
  5. Improve management information quality and accessibility.
  6. Improve digital maturity of Laboratory systems by way of adopting HL7 FHIR

Use of UK Core

  • Patient
  • FamilyMemberHistory**
  • Practitioner
  • PractitionerRole
  • ServiceRequest
  • Organisation
  • Specimen
  • Consent
  • Task
  • Condition or Observation
  • QuestionnaireResponse
  • DiagnosticReport
  • Observation
  • MolecularSequence**

** - These resources are yet to be part of UKCore standard

User Stories

Genomic Test Ordering & Receipt

As a referring clinician, I want:

  • to be able to send genomic test requests electronically

So that:

  • the need and time taken to create paper-based test orders is removed

As a Laboratory Scientist, I want:

  • to be able to receive genomic test orders electronically

So that:

  • the detail can automatically be fed into my local laboratory management system (LIMS), saving me time

Business-Technical Requirement - All data transmitted, as specified in the genomic test order data set shall be transmitted in a structured, machine-readable format to deliver benefits of consuming standardised data in disparate, locally varying systems.

Actors: Referring Clinicians, Genomic Laboratory Hub Scientists & Admin

Frequency of Use: Daily

Triggers: Test purposes – Diagnosis, Prognosis, Treatment (pharmacogenomic)

Pre Conditions

  1. Patient has NHS number
  2. Patient has been searched
  3. Patient has been found
  4. Ordering test details are available including eligibility criteria from Test Directory
  5. Family History
  6. Consent
  7. Specimen
  8. Additional Information around:
    1. Specialist Tests

Post Conditions

  1. Patient test updated in sending and receiving systems
  2. Patient data shared to GLH (Genomic Laboratory Hubs) and other organisations as appropriate

Main Course

  1. The Patient has an ongoing episode of care which doesn’t improve conditions
  2. Based on family history and existing knowledge, patients get referred to secondary care
  3. In secondary care further diagnostics doesn’t provide a prognosis, so clinicians decide there could be underlying genetic issues
  4. Clinician decides to send the patient for genetic testing around WGS or NON WGS settings:
    1. Test directory to help in the selection of right tests
  5. Clinician fill in the details for test covering:
    1. Demographics
    2. Test Details
    3. Family History
    4. Ongoing Conditions
    5. Prefilled Questions as part of the genomic testing pathways
  6. The request is sent to one of the 7 GLH for execution

Alternate Course
There isn’t an alternate pathway for genomic testing as they are specialised diagnostics

Exception

  1. Patient NHS number cannot be found or;
  2. Patient is a Non-NHS entity

Genomic Test Reporting

As a Clinical Scientist, I want:

  • to be able to send genomic test reports electronically

So that:

  • the time taken to supply referring clinicians with test results is reduced.

As a Referring Clinician, I want:

  • to be able to receive genomic test reports electronically

So that

  • the detail can automatically be fed into my local systems and available to me without the need for manual user transcription.

Business-Technical Requirement - All data transmitted, as specified in the genomic test order data set shall be transmitted in a structured, machine-readable format to deliver benefits of consuming standardised data in disparate, locally varying systems.

Actors: Clinical Scientists and Referring Clinicians

Frequency of Use: Daily

Triggers: Genetic/Genomic data analysis available for interpretation and reporting

Pre Conditions

  1. Patient has NHS number
  2. Patient has been searched
  3. Patient has been found
  4. Ordering test details are available including eligibility criteria from Test Directory
  5. Family History
  6. Consent
  7. Specimen
  8. Additional Information around
    1. Specialist Tests

Post Conditions

  1. Patient test outcome/results updated in laboratory systems
  2. Patient results data shared to home-region genomics laboratory hub and ordering entity

Main Course

  1. Patient Test received by GLH and workflows are triggered
  2. Specimen Samples are received
  3. DNA extracted from samples
  4. DNA Analysed
  5. Analysis interpretation reports created, validated and signed off
  6. Reports sent to ordering clinicians/organisation

Alternate Course
There isn’t an alternate pathway for genomic testing as they are specialised diagnostics

Exception

  1. Patient NHS number cannot be found or;
  2. Patient is a Non-NHS entity

Sample Tracking

As a Referring Clinician, I want:

  • to be able to provide updates as regards sending or receipt of samples, with this information being available/visible by all impacted stakeholders within the genomic testing pathway

So that:

  • sample logistics are trackable

As a Referring Clinician, I want:

  • to be able to query/track the whereabouts of a given sample, as relating to a specified genomic test order

So that

  • sample logistics are auditable

Business-Technical Requirement - All data transmitted, as specified in the genomic test order data set shall be transmitted in a structured, machine-readable format to deliver benefits of consuming standardised data in disparate, locally varying systems.

Actors: Referring Clinicians, Laboratory Admin & Scientists

Frequency of Use: Daily

Triggers: Sample/Specimen logistical movements between organisational boundaries

Pre Conditions

  1. Patient has NHS number
  2. Patient has been searched
  3. Patient has been found
  4. Ordering test details are available including eligibility criteria from Test Directory
  5. Family History
  6. Consent
  7. Specimen
  8. Additional Information around
    1. Specialist Tests

Post Conditions

  1. Patient test updated in sending systems
  2. Patient data shared to GLH

Main Course

  1. Patient Test received by GLH and workflows are triggered
  2. Specimen Samples are received
  3. DNA extracted from samples
  4. Sample tracking status updated
  5. DNA Analysed
  6. Analysis interpretation reports created, validated and signed off
  7. Reports sent to ordering clinicians/organisation

Alternate Course
There isn’t an alternate pathway for genomic testing as they are specialised diagnostics

Exception

  1. Patient NHS number cannot be found or;
  2. Patient is a Non-NHS entity

Test Status Updates

As a Referring Clinician, I want:

  • to be able to provide updates as regards the current status/stage of the fulfilment of a genomic test order, for which I am responsible, with this information being available/visible by all impacted stakeholders within the genomic testing pathway

So that:

  • the current stage/status of a test order progression is trackable

As a Referring Clinician, I want:

  • be able to query/track the status/stage as relating to a specified genomic test order

So that

  • the current stage/status of a test order progression is auditable

Business-Technical Requirement - All data transmitted, as specified in the genomic test order data set shall be transmitted in a structured, machine-readable format to deliver benefits of consuming standardised data in disparate, locally varying systems.

Actors: Referring Clinicians, Laboratory Admin & Scientists, Bioinformaticians

Frequency of Use: Daily

Triggers: Sample/Specimen logistical movements between organisational boundaries

Pre Conditions

  1. Patient has NHS number
  2. Patient has been searched
  3. Patient has been found
  4. Ordering test details are available including eligibility criteria from Test Directory
  5. Family History
  6. Consent
  7. Specimen
  8. Additional Information around
    1. Specialist Tests

Post Conditions

  1. Patient test updated in sending systems
  2. Patient data shared to GLH

Main Course

  1. Patient Test received by GLH and workflows are triggered
  2. Specimen Samples are received
  3. DNA extracted from samples
  4. DNA Analysed
  5. Analysis interpretation reports created, validated and signed off
  6. Regular updates for test order status
  7. Reports sent to ordering clinicians/organisation

Alternate Course
There isn’t an alternate pathway for genomic testing as they are specialised diagnostics

Exception

  1. Patient NHS number cannot be found or;
  2. Patient is a Non-NHS entity
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