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RD Workflow

Coming soon: Updated diagram of the Rare Disease Workflow. This diagram will provide a visual representation of the process.

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 any patient in the referral lacks consent, the referral will be blocked and not visible in the Interpretation Portal.
  • The referral will not be dispatched to any Decision Support System (DSS) either.

Dispatching to the DSS

Once successfully loaded into the DSS, the referral moves to the To Be Reviewed tab, activating the DSS link on the case page.

  • If the referral fails to load (e.g., due to technical issues), it remains in the Ready to Dispatch tab.
  • If you suspect an issue, notify the Genomics England Service Desk.

Creating a Summary of Findings

To proceed with analysis and document the findings, users must generate a Summary of Findings (SoF), also called a Clinical Report in the CIP-API.

  • This can be done in either the DSS or the Interpretation Browse of the Portal.
  • Until an SoF is created, the case remains in the To Be Reviewed tab.
  • Once created, the referral transitions to the Pending Outcomes tab.

Completing the Reporting Outcommes Questionnaire

To close a case and record the clinical outcomes, users must complete a Reporting Outcomes Questionnaire (RoQ), also known as an Exit Questionnaire.

  • Once completed, the referral moves to the Reported Cases tab in the Interpretation Portal.

Updating a Closed Referral

To correct errors or update classifications in CVA (e.g., for a new Diagnostic Discovery Finding), follow these steps:

  1. Create a New SoF
  2. Generate an updated SoF in the Interpretation Portal or DSS (see the workflow guide for details).
  3. The closed referral moves back to the Pending Outcomes tab.

  4. A new SoF version will be indicated on the referral page.

  5. Complete a New RoQ

  6. Submit a new RoQ for the updated SoF version.
  7. This ensures the referral is properly closed with the latest information.

By following these steps, users can maintain accuracy and completeness when updating closed referrals.

Consent Re-Check

When downloading the report, Patient Choice will be rechecked to confirm consent compliance.

Case Archiving in Congenica

To improve system performance and cost efficiency, Congenica automatically archives cases after a period of inactivity (see the GUI-EXT-011 Genomic Laboratory Hubs (GLH) Congenica User Guide in NHS Futures for details).

  • Once archived, a Case Archived status is sent to the Interpretation Portal.
  • To review an archived case, users must unarchive it in Congenica.
  • Unarchiving may cause the case to move through tabs like To Be Reviewed and could trigger daily email notifications.