Is my patient eligible?
To review patient eligibility please Check the National Genomic Test Directory
All current versions of the resources associated with the request process are curated on NHS England Genomic website under the Genomics Resources tab
For ease of navigation direct links are in blocks on below.
One page pathway guide for Rare Disease
Requesting reanalysis of existing data
For patients who have already had a WGS test under the National Genomic Test Directory (NGTD), reanalysis of a new gene panel or applying the latest version of the previous panel is only available where there is a change in clinical circumstances to justify the test. This would include a significant change in the patient’s disorder, potential new treatment or clinical management applicable or a new pregnancy which might be impacted by testing. There also needs to be a significant expectation that the re-analysis will provide a diagnosis which was not made by the original test.
For cases that satisfy those requirements, please complete the form below:
and send to: SWGLHexports@nbt.nhs.uk
Requesting a WGS test for Rare Disease
NHS WGS test order form for rare disease:-
For sample information and transport options please see: Sample Requirements and Transport
Complete the two forms below and send to mailto: SWGLHexports@nbt.nhs.uk
NHS Genomic Medicine Service record of discussion form
Additional Forms
All published forms can be found directly on the NHS Genomic Medicine Service Resources website.
For expediency we have directly linked to additional forms that may be required for specific circumstances in the conversation process:
NHS Genomic Medicine Service young persons' assent form
NHS Genomic Medicine Service genomic consultee declaration (adult requests only)
Below is the form for opt in and out to the National Genomic Research Library as part of the conversation process:
NHS Genomic Medicine Service participation in research form
Patient Leaflets
All patient information leaflets can be found on NHS England National Genomic Services Resource pages and Genomics England Patients and Participants website pages
Direct links here:
Whole genome sequencing for a rare disease:Information for patients and family members
Whole genome sequencing for a rare disorder - easy read version
Genomics England Genomics Research and why it's important
Clinical Guides for Rare Disease
One page pathway guide for the request process for Whole Genome Sequencing in Rare Disease can be accessed in the drop down at the top of this page.
The HEE resource for guidance on elements of the consent conversation can be found here:
HEE GEP Guide to requesting WGS test - RD
Genomics Education Programme Resources
There are many excellent education packages to support your genomic learning journey at HEE Genomics Educational Resources
For more targeted HEE Genomics Education resources to support Whole Genome Sequencing test pathway
Whole Genome Sequence request need advice?
If you require further information regarding genomic testing please contact the laboratory
Tel:0117 4146168 or SWGLHexports@nbt.nhs.uk
If you require support for navigating the pathway including completion of paperwork please contact the Genomic Healthcare Practitioners
email rduh.swgenomicpractitioner@nhs.net