Whole genome sequencing (WGS) has been launched across all seven genomic laboratory hubs (GLHs) to test for the rare disease, solid tumour and haematological malignancy indications that are listed in the National Genomic Test Directory.
Genomic Medicine Service WGS Portal
The GMS WGS Portal can be used to search for available clinical indications and eligibility criteria. You must be using an NHS computer to use this portal.
Patient choice and consent
Whole genome sequencing (WGS) in the NHS involves a patient choice consent model, which covers both the clinical implications of a test as well as an offer to participate in the National Genomic Research Library (NGRL), within the clinical pathway. This enables the patient (or their family) to make an informed decision about the testing.
WGS testing therefore requires special considerations for discussion with patients and families and a specific WGS test request form for most indications.
More information can be found on the Health Education England, Genomic Education Programme, website.
Record of discussion form
Each patient’s (and family member where relevant) choices are captured via a nationally standardised record of discussion (RoD) form and additional forms where relevant.
In order for WGS results to be released to the GLH, an RoD must be received by the GLH for each individual undergoing WGS.
The patient choice conversation can be performed remotely and the form submitted without a patient signature – please tick the “Remote consent” section of the RoD form to indicate this.
The record of discussion form has been translated into a number of languages; these are available here. Please let us know via email if you have a need for other languages and we will endeavour to meet this need.
Prior to ordering a WGS test, clinicians should complete Patient Choice Consent Framework training which can be accessed East GLH Patient Choice online training program.
Patient information leaflets
Patient information leaflets have been produced, as well as easy read versions, for clinicians to share with patients and/or their families.
They have also been translated into a number of languages; these are available here.
Please let us know via email if you have a need for other languages and we will endeavour to meet this need.
Referral forms and other paperwork
To order a WGS test, please refer to the relevant page for the correct forms and process:
- the Rare and Inherited Disease WGS web page
- the Cancer test web page (also relevant for heamatological malignancies)
As well as completing the Referral form and Record of Discussion form (which is available in a number of languages), other forms may be necessary depending on the age of the patient or if they lack capacity. These are listed on the webpage links provided.
Please ensure the correct order forms are used.
Withdrawal from National Genomic Library Research (NGLR) form
If your patient would like to withdraw from the National Genomic Research Library, details on the types of withdrawal available are available on this form.