Whole genome sequencing (WGS) is now available for specific clinical indications in the Rare and Inherited Disease Test Directory through the national Genomic Medicine Service.
WGS is available for a range of clinical indications - see table below.
Prior to ordering a WGS test, clinicians should complete Patient Choice Consent Framework training; please find the East GLH online training portal here:
East GLH Patient Choice online training program
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.
Clinicians at Cambridge University Hospitals NHS Foundation Trust (CUH) should use EPIC to request a WGS test (see flow chart below).
Please send completed Test Order Form and Record of Discussion Forms to email@example.com, and include “WGS Rare Disease” in the subject heading.
Order and consent forms
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.
Please arrange for samples to be taken and sent to the Leicester, Nottingham or Cambridge Laboratories using our normal referral form (below) 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.
Flow charts for clinical guidance
AWAITING DETAILED GUIDANCE DOCUMENT
Should a patient lack capacity to make the decision to go ahead with genomic testing, or be between 6 and 15 years of age, specific forms need to be completed.
These can be found here.
Patient information on WGS has been produced, and is available on our webpage for patients and carers.