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Whole Genome Sequencing (WGS) is commissioned by NHS England for patients with particular subtypes of solid cancer and haematological malignancy.

WGS has the potential to detect somatic and germline variants in a single test and for the foreseeable future will be performed alongside standard of care (SOC) genetic analysis. To gain maximum information from WGS, tumour and germline DNA are sequenced simultaneously.

Patient identification/eligibility and referral

WGS should be considered a part of the normal diagnostic repertoire and is available for any paediatric cancer presentation and sarcoma and acute leukaemia presenting at any age.

A patient may be identified as potentially eligible for whole genome sequencing (WGS) by the consultant responsible for their care or at a cancer multi-disciplinary team (MDT) meeting discussion. To access WGS, a patient’s clinical team should:

  • Provide informed consent via a completed Record of Discussion form
  • Provide both tumour and germline samples

WGS Cancer – Documents

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.

Test Order Form – Complete ONE form per individual

Record of Discussion Form – Complete ONE form per individual

The patient choice conversation can be performed remotely and the form submitted without a patient signature – please tick the “Remote consent” check box in the Healthcare Professional use only section on p3 of the form to indicate this.

Send completed Test Order Form and Record of Discussion Forms to

Include “WGS Cancer” in the subject heading.

Review of WGS findings

WGS results for cancer are discussed at a multi-disciplinary Genomic Tumour Advisory Board (GTAB) meeting to determine clinical actionability. Invitations will be shared with referring clinical teams.

Samples and transport

Solid tumour patients – Local protocols must be followed to ensure that a fresh tissue sample is collected and sent to the appropriate NWGLH site. Please see here for more details on sample requirements.

Solid tumour samples for DNA extraction for WGS should be sent to the Manchester site laboratory accompanied by the NW GLH WGS Test Request Form (WGS Sample Form).

Haematological oncology patients – please use existing pathways via the local HMDS/HODS service.

Germline samples – For solid tumour patients a blood sample in EDTA should also be sent for germline analysis. For haematological oncology patients, saliva (taken 5 days after the start of chemotherapy) or skin biopsy should be used for germline analysis.

Patient information leaflets:

 A standard and an easy-read leaflet on WGS for patients are available from the NW GLH website.

Detailed guidance:

Health Education England have produced guidance for ordering and consenting to WGS for Cancer.

This is accompanied by a summary factsheet.

Taking informated consent for WGS haemato oncology