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RD Workflow

Rare Disease Workflow

Before a rare disease referral is registered in the CIP-API, patient consent (also referred to as patient choice) must be verified for each individual in the referral.

  • If any patient within the referral lacks valid consent, the referral will be blocked and will not appear in the Interpretation Portal.
  • These referrals will also not be dispatched to any Decision Support System (DSS).

Dispatching to the DSS

Once successfully loaded into Congenica, the referral moves to the To Be Reviewed tab, and the Congenica link becomes active on the case page.

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

New Interpretation Browser

Referrals without tiered CNVs and/or STRs are also dispatched to the New Interpretation Browser (New IB).
To confirm ingestion into the New IB system, check the New IB workflow status in either the Referrals Grid or on the individual Referral Page.
These referrals will display an active New Interpretation Browser linkout button.

Creating a Summary of Findings

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

  • This can be done in either the Portal's Interpretation Browser, Congenica, or the New IB.
  • Until an SoF is created, the case remains in the To Be Reviewed tab.
  • Once created, the case progresses to the Pending Outcomes tab.

New Interpretation Browser

If a case is closed in the New IB, the SoF, RoQ, and Variant Interpretation Logs (VILs) are automatically sent to the Portal.
These cases are moved directly to Reported Cases, and users do not need to manually complete an RoQ in the Portal.

Completing the Reporting Outcomes Questionnaire

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

  • Upon completion, the case moves to the Reported Cases tab in the Interpretation Portal.

New Interpretation Browser

If a case is closed in the New IB, the SoF, RoQ, and Variant Interpretation Logs (VILs) are automatically sent to the Portal.
These cases are moved directly to Reported Cases, and users do not need to manually complete an RoQ in the Portal.

Updating a Closed Referral

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

  1. Create a New SoF
  2. Generate an updated SoF in the Interpretation Portal or DSS.
  3. This reopens the referral, moving it back to the Pending Outcomes tab.

  4. A new SoF version will appear on the Referral Page.

  5. Complete a New RoQ

  6. Submit a corresponding RoQ for the updated SoF.
  7. This ensures the referral is properly re-closed with the latest information.

Following this process ensures the accuracy and completeness of case data.

Consent Re-Check

When downloading the report, Patient Choice is re-verified to ensure ongoing consent compliance.

New Interpretation Browser

Referrals can also be updated directly in the New IB.
Please refer to their support documentation for guidance.

Case Archiving in Congenica

To improve performance and resource efficiency, Congenica automatically archives inactive cases after a defined period
(see the GUI-EXT-011 Genomic Laboratory Hubs (GLH) Congenica User Guide on NHS Futures for details).

  • When archived, a Case Archived status is sent to the Interpretation Portal.
  • To access an archived case, it must be unarchived within Congenica.
  • Unarchiving may cause the case to reappear in tabs such as To Be Reviewed and may trigger daily email notifications