Rare Disease – Whole Genome Sequencing
The Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) service is now available for a limited number of clinical indications. The service is in a testing phase and for patients where genetic testing has not been previously performed, parallel testing using current practice is indicated.
A more detailed description of this information can be downloaded here:
Patients will be given the opportunity to participate in the National Genomic Research Library. Find more information here: National Genomic Research Library
Please contact the East GLH team with any queries – firstname.lastname@example.org (please include “Rare Disease WGS” in the subject heading).
Genomic Medicine Service Portal
The GMS WGS Portal can be used to search for available clinical indications and eligibility criteria. You must be using a NHS computer to use this portal. Please note that some information provided in this portal, specifically the scope of each test, is not correct at this time.
Clinical Indications Available for WGS
The current list of Rare Disease WGS clinical indications can be downloaded here: Rare Disease WGS Clinical Indications March 2021
Patient Choice Consent Framework
Referring clinicians must complete Patient Choice Consent Framework training prior to ordering a WGS test. Please find the East GLH online training portal here:
East GLH Patient Choice online training program
WGS Rare Disease – Documents
Flow charts for clinician guidance:
East GLH Clinician Guidance WGS RD Flow Chart
East GLH Clinician Guidance WGS RD Flow Chart – CUH EPIC
Please send samples and completed documents to:
CUH Genomic Laboratory, Box 143, Cambridge University Hospitals, Cambridge, CB2 0QQ.
Electronic copies of completed documents can be sent to email@example.com (please include “Rare Disease WGS” in the subject heading).
WGS Test Request Forms
The GMS WGS Portal can be used to generate a partially completed WGS test request form for you to download and print. The WGS Rare Disease test request forms for East GLH can be downloaded here:
Proband – WGS Rare Disease Test Request Form
Family Member – WGS Rare Disease Test Request Form
Download these forms onto your computer to enable editing.
CUH Clinicians can use EPIC to request a WGS test (see WGS RD Flow Chart – CUH EPIC).
Patient Choice – Record of Discussion Forms
A Record of Discussion form must be completed for each participating family member.
The Patient Choice discussion can be performed remotely. If verbal consent for WGS testing is obtained in this way, the patient signature box should be left blank and the clinician should write on the form that consent was verbally obtained during telephone consultation. The referring clinician should then sign the form in the usual clinician box (Section – “Healthcare professional use only”).