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Rare Disease (RD) Workflow

Introduction

Before a rare disease referral is registered in the CIP-API, the patient's “patient choice” (consent) is verified for each patient in the referral. If consent is missing for any patient in a referral, the referral will be blocked and not visible to users in the portal. Additionally, the referral will not be auto-dispatched to Congenica unless the patient's consent is rescinded after dispatch.

Upon successfully loading the referral in the Decision Support System (DSS), it moves to the "To Be Reviewed" tab, and the DSS link on the case page becomes active.

Handling Referral Loading Issues

If the referral fails to load in the DSS, it will remain in the "Ready to Dispatch" tab. In such cases, please notify the Genomics England Service Desk if you suspect that a case has not loaded correctly in the DSS.

Referral Workflow Stages

The movement of a referral to the next stage involves several key steps:

  1. To Be Reviewed to Pending Outcomes:

    • A Summary of Findings (SoF), referred to as a "Clinical Report" in CIPAPI, must be generated either in the DSS or within the Interpretation Portal.
    • Without a Summary of Findings, the case will remain in the "To Be Reviewed" tab.
    • Once an SoF is created, the referral will transition to the "Pending Outcomes" tab in the Interpretation Portal.

  2. Pending Outcomes to Reported Cases:

    • If a "Reporting Outcomes Questionnaire" (RoQ) is completed for the SoF, the referral will move to the "Reported Cases" tab in the Interpretation Portal.
    • Unless a new SoF is generated, the referral will stay in the "Reported Cases" tab.
    • After three months in this state, the DSS URL will be retired, marking the referral as "Completed".

Note

When a user updates a closed referral to correct an error or classification in the Clinical Variant Analysis (CVA), they must create a new SoF in the Interpretation Portal or CVA. The referral will revert to the "Pending Outcomes" tab until a new RoQ is completed. Note that when the report is downloaded, the "patient choice" is rechecked.

Updating a Closed Referral

If a user needs to correct an error or update the classification in CVA (e.g., for a new Diagnostic Discovery Finding) for a previously reported referral, they should follow these steps:

  1. Create a New SoF:

    • Generate a new SoF in the Interpretation Portal or DSS (refer to the workflow guide for quick steps).
    • The closed referral will move back to the "Pending Outcomes" tab.
    • On the referral page, a new SoF version will be indicated.

  2. Complete a New RoQ:

    • Complete a new RoQ for the updated SoF version.
    • This ensures that the referral is properly closed and that the latest information is accurately recorded.
    • Follow the steps in the workflow guide for quick instructions.

By adhering to these steps, users can effectively update closed referrals in the CVA, ensuring accuracy and completeness in the system.

Note

When the report is downloaded, the "patient choice" will be rechecked to ensure compliance with consent requirements.

Case Archiving in Congenica

To enhance system performance and cost efficiency, Congenica has implemented automatic case archiving. If there is no review activity on a referral for a specified period (see the GUI-EXT-011 Genomic Laboratory Hubs (GLH) Congenica User Guide Clinical Genomic Interpretation for exact details), the case will be archived. When this occurs, a 'Case Archived' workflow status will be sent to the Interpretation Portal.

To review an archived case in Congenica, users must unarchive it. Once unarchived, the case's previous status will be resent to the Interpretation Portal, which may cause the case to move through different tabs on the Case Page, such as "To Be Reviewed." Consequently, this case might be included in the daily email notifications sent to users.

Last update: 2024-08-20