Rare Disease – Whole Genome Sequencing
The Genomic Medicine Service (GMS) Whole Genome Sequencing (WGS) service is now available for specific clinical indications in the Rare and Inherited Disease Test Directory.
Clinical Indications Available for WGS
The current list of Rare Disease WGS clinical indications are here – Rare Disease WGS Clinical Indications
Patient Choice Consent Framework
Referring clinicians should 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
New Test Order and Record of Discussion forms are available that can be completed electronically or printed and completed by hand. Download these forms onto your computer and open in Adobe software to enable electronic editing.
Test Order Form – Complete ONE form per family
CUH Clinicians should use EPIC to request a WGS test (EPIC WGS RD Flow Chart below).
Record of Discussion Form – Complete ONE form per individual
The patient choice conversation can be performed remotely and the form submitted without a patient signature – please tick the “Remote consent” section of the form to indicate this.
Send completed Test Order Form and Record of Discussion Forms to firstname.lastname@example.org
Include “WGS Rare Disease” in the subject heading.
Arranging for Samples
Arrange for samples to be taken and sent to the Leicester, Nottingham or Cambridge Laboratories using our normal referral form (Rare Disease Referral form) or your local test request process. Clearly indicate “WGS for Rare Disease – East GLH” on the forms.
If a DNA samples are already stored, please refer to the detailed information document below.
Please email email@example.com (include “WGS Rare Disease” in the subject heading)
WGS Rare Disease – Record of Discussion – Consultee Declaration Regarding Genomic Testing
National Genomic Research Library – Young Person Assent Form
National Genomic Research Library – Withdrawal Form
NHSE policy – WGS Adaptations to seeking and recording patient choices in the GMS in the context of increased remote working
Previous versions of the WGS Rare Disease test request forms – one per individual:
Proband – WGS Rare Disease Test Request Form
Family Member – WGS Rare Disease Test Request Form
Link to Genomic Medicine Service WGS test selection portal: