Rare Disease Referral Overview Page¶
Overview¶
To open a Referral and view an overview, click on the Referral ID in the Referral Grid for the case you wish to review.
Key Sections¶
Key
| # | Section | Description |
|---|---|---|
| 1 | DSS | View the referral in the Decision Support Systems (DSS). |
| 2 | Interpretation Browser | Browse results from Interpretation Services. |
| 3 | Gene Panels Coverage | View gene panel coverage for each panel applied to the referral. |
| 4 | CVA | Link out to the Clinical Variant Ark (CVA) to compare cases and variants. |
| 5 | Payload | Download the payload for the referral. |
| 6 | Referral Priority | Referral priority set as “Urgent" or “Routine" during test ordering. |
| 7 | Case Status | Interpretation Status of the case (e.g. whether a clinical report is ready). See: GMS Interpretation Portal Tabs. |
| 8 | Workflow Status | Represents the workflow status of the referral. |
| 9 | Interpretation Services | List of the interpretation services that have been applied to the referral. |
| 10 | Genome Assembly | Displays the assembly version used for the referral (e.g. GRCh38). |
| 11 | Interpreting Organisation | Organisation defined during test ordering. |
| 12 | Requesting Organisation | Organisation defined during test ordering. |
| 13 | Notes | Notes added to the case during test ordering. |
| 14 | Clinical Indication | Clinical indication from the Test Directory defined during the test order. |
| 15 | Penetrance | Penetrance model under which the referral is being analyzed (e.g. complete or incomplete). |
| 16 | Affiliated Panels | Gene panels applied to the referral. For GMS cases, the panel name is a hyperlink to the GMS signed-off panel resource on PanelApp. |
| 17 | Case Metadata Table | Displays the patient ID, NHS number, patient’s full name, date of birth, sex, relationship to the proband, and disease status (affected/unaffected). |
| 18 | Present HPO Terms | HPO terms for the individual within the referral. These terms link out to the HPO database. |
| 19 | Sample ID | Sample IDs associated with the referral. |
| 20 | Patient Choice | Answers to patient choice questions. See: Patient Choice (Consent) Overview. |
Functionality¶
The Rare Disease Referral Overview enables users to:
- View the pedigree associated with the referral.
- See the “Interpretation Services” applied to a case.
- Link to the Rare Disease Interpretation Browser.
- Link out to Decision Support Systems (DSS).
- Link out to Clinical Variant Ark (CVA).
- Download the associated Interpretation Request Data in JSON format.
Display of PID¶
Display of PID
The pedigree table includes the patients’ NHS numbers, names, dates of birth, and consent status, which are queried directly from TOMS.
If there is any issue accessing this data from TOMS, the pedigree table will still be displayed; however, the PID data will be shown as “N/A”.
Below the header section, there is a summary of the Interpretation Service results applied to the referral and a list of the associated files available for download.
From here, users can download Summary of Findings and complete Reporting Outcomes Questionnaires.
Referral Statuses¶
Referral Statuses
For details of the overall referral status, please see the API Statuses Documentation.