Whole Genome Sequencing

Eligibility criteria for genomic tests can be found in the National Genomic Test Directory.

This lists the clinical specialties that would be expected to request for a given clinical indication and sets out which patients should be considered for testing.

All  current versions of the resources associated with the request process are curated on NHS England Genomic website under the Genomics Resources tab.

An appropriate discussion of genomic testing and the possible implications for a patient and their family members must take place before testing is requested.

It is the referring clinician’s responsibility to ensure that the patient/carer knows the purpose of the test and that the sample may be stored for future diagnostic testing. In submitting a sample with a request form, the clinician confirms that informed consent has been obtained for (a) testing and storage (indefinitely) (b) the use of this sample and the information generated from it to be shared with members of the donor’s family and their health professionals (if appropriate). The patient should be advised that the samples may be used anonymously for quality assurance and training purposes.

If stated as a requirement for a specific test, a record of this discussion must be retained within the patient record when a genomic test is ordered.

For more information please view the Consent and Confidentiality in Genomic Medicine guidelines from the Joint Committee on Medical Genetics.

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

To request a whole genome sequencing test for rare disease, you will need to download and complete the NHS WGS test order form for rare disease

Please also complete the NHS Genomic Medicine Service Record of Discussion form

You will need to send these to: SWGLHexports@nbt.nhs.uk

What additional forms are needed?

All published forms can be found directly on the NHS Genomic Medicine Service Resources website.

For example, these additional forms 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

Before sending samples for genomic testing, please ensure you follow the correct preparation and transport guidelines. This includes information on sample types, volumes, handling, labelling, and packaging standards.

For a full list of sample requirements and transport guidance, please visit the samples and transport page of the website. 

Turnaround times (TATs) for genomic tests are continually refined through ongoing reviews of testing standards.

Results will be returned to the email account or clinician listed on the request form.

Visit the results and turnaround page for more information.

One page pathway guide for the request process for Whole Genome Sequencing in Rare Disease can be accessed here:

One Page Guide for RD WGS Pathway

The HEE resource for guidance on elements of the consent conversation can be found here:

HEE GEP Guide to requesting WGS test – RD

There are many excellent education packages to support your genomic learning journey at Genomics Educational Resources

For more targeted Genomics Education resources to support Whole Genome Sequencing test pathway 

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