Whole Genome Sequencing (WGS) for haematological malignancy

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

Samples for somatic and germline WGS should be collected from:

• Paediatric or young adults (up to and including age 25) diagnosed with any cancer
• Adults who have a suspected or confirmed haematological diagnosis in whom standard of care testing or treatment has been exhausted

Whole genome analysis is not currently possible for patient relapsing post transplant and who show a significant degree of graft:host chimerism. Specific queries should be directed the GLH clinical and laboratory team

Children (aged ≤25 years) with haematological malignancy that is NOT acute leukaemia may be eligible for WGS but should be discussed on a case-by-case basis with the SWGLH via email at SWGLHexports@nbt.nhs.uk .

For patients being offered WGS who have exhausted SOC testing it is recommended that where possible this is pre-emptively discussed either regionally (e.g. regional MPN MDT, acute leukaemia advisory panel or similar) or at local MDT and the lab notified at nbn-tr.bglexportscientist@nhs.net.

WGS requires specific discussion with patients about the implications of testing and the opportunity of WGS data being submitted to the National Genomic Research Library. Preliminary discussion should occur at the time of the diagnostic bone marrow biopsy and documented on the WGS Cancer Test order form (TOF).

Where can I find test order forms?

Complete the two forms below and send to SWGLHexports@nbt.nhs.uk

BHODS-form-v5-18092025

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

WGS results may have broad implications for patients and their family members including information about the patient’s treatment and possibly hereditary predisposition to leukaemia that are relevant to family members. These should be discussed as appropriate given the clinical context. Patients should be aware that WGS testing requires their data will be processed through a national system.

‘Patient choice’ is a process which enables patients to make an informed decision about having a diagnostic clinical WGS test, as well as make a clear and distinct decision about being part of the National Genomic Research Library (NGRL).

National policy requires that every patient is given the opportunity to take part in the NGRL, and that this is discussed at some point in their pathway. If a discussion has not taken place when clinical WGS for diagnosis was agreed, or the patient has chosen not to take part, this will not prevent the WGS test.

The clinical team should ensure that there are robust local measures to ensure adequate discussion with patients and that appropriate documentation is in place, whilst also ensuring that this does not result in unnecessary delay in results.

Resources about patient choice for clinicians is available here and will be supported by local training.

Consent for WGS should always be recorded in the patient’s notes in line with local guidance. However, national policy requires that a RoD is also completed and sent to the SWGLH before WGS can be initiated. The RoD reflects the choice the patient has made about joining their genomic data to the National Genomics Research Library.

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 suspected cancer:Information for patients and family members

Information about Whole genome sequencing fir if you think you have cancer – easy read

Genomics England Genomics Research and why it’s important

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