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RD Referral Page

Overview

Clicking a Referral ID in the Referral Grid opens the Referral Overview page.

This page provides a snapshot of a rare disease referral, with access to key information and functionalities.

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Functionality

Display of PID

The pedigree table displays patients’ NHS numbers, names, dates of birth, and consent status, queried from HTO. If HTO data is unavailable, PID data will show as “N/A”.

The Referral Overview enables users to:

  • View the pedigree.
  • See applied “Interpretation Services” (Exomiser or Genomics England Tiering).
  • Link to the Rare Disease Interpretation Browser.
  • Link out to Decision Support Systems (DSS).
  • Link out to Clinical Variant Ark (CVA).
  • Download the Interpretation Request Data in JSON format.
  • View the Interpretation Summary.
  • Download associated files.
  • Download Summary of Findings and complete Reporting Outcomes Questionnaires.

Key Information

Section Description
DSS View the referral in Decision Support Systems (DSS).
Interpretation Browser Browse results from Interpretation Services.
Gene Panels Coverage View gene panel coverage for each panel applied.
CVA Link to Clinical Variant Ark (CVA) for case and variant comparison.
Payload Download the referral payload.
Referral Priority Indicates priority: “Urgent” or “Routine”.
Case Status Shows interpretation status (e.g., clinical report ready).
Workflow Status Represents the referral's workflow status for the different Decision Support Systems.
Interpretation Services Lists applied interpretation services.
Genome Assembly Displays the assembly version (e.g., GRCh38).
Interpreting Organisation Shows the interpreting organization.
Requesting Organisation Shows the requesting organization.
Notes Displays notes added during test ordering.
Clinical Indication Shows the clinical indication from the Test Directory.
Penetrance Indicates the penetrance model.
Affiliated Panels Lists applied gene panels (links to PanelApp for GMS cases).
Case Metadata Table Displays patient details (ID, NHS number, name, DOB, sex, relationship, disease status).
Present HPO Terms Shows HPO terms (links to HPO database).
Sample ID Lists associated Sample IDs.
Patient Choice Displays answers to patient choice questions. See: Patient Choice (Consent) Overview.

Please note that we are aware that the CNV Tier B are not displayed. This feature will come in a future release.

Interpretation Summary

The RD Referral Page also provides an overview of all tiered variants.

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