Whole Genome Sequencing – Cancer

Introduction to project

This workstream focusses on supporting clinical teams working across the Central and South Region, to facilitate the introduction of Whole Genome Sequencing (WGS) for certain cancer clinical indications, into existing diagnostic pathways.

What is the condition?  

WGS is available on the NHS Genomic Test Directory for the following clinical indications;

  1. Sarcoma
  2. Some haematological cancers
  3. Paediatric cancer
  4. Teenage and young adult cancer up to 24 years
  5. Central nervous system cancer
  6. Cancer of unknown primary
  7. Cancer where all standard of care treatments have been exhausted
  8. Triple negative breast cancer (TNBC)
  9. Ovarian cancer

CAS GMSA have focussed project management support to deliver TNBC and glioma pathways, and have also facilitated work being undertaken by sarcoma, paediatric, haemato-oncology as well as Teenage and Young Adult teams across the geography.

TNBC is a breast cancer that more commonly affects younger women and does not respond to treatments in the same way as more common types of breast cancer. Some families may have a genetically higher risk of developing breast cancer such as TNBC. WGS can help[ inform treatment and care options for the patient and their family members.

Gliomas are brain tumours that start in glial cells. These are the supporting cells of the brain and the spinal cord. There are different types of gliomas. The most common type is called astrocytoma. Gliomas can be treated with surgery, chemotherapy and radiotherapy. WGS can indicate whether an individual will respond to chemotherapy and/or be eligible for research studies.

What are we doing? 

WGS testing involves taking a tissue sample, a blood sample, as well as completing a discussion form and a test order form.. The tissue sample must be frozen. The two samples and two forms make up a full patient referral, which is sent to the Genomic Laboratory Hub. The results are sent back to clinicians after being reviewed at a Genomic Tumour Advisory Board (GTAB) who can then advise on the best course of action for that patient.

We have been working with project teams made up of health care professionals across the pathway from patient identification, to pre-op clinic, biopsy, surgery, pathology and oncology follow up.

We are currently working with 3 Trusts in our region to set up TNBC WGS pathways (Portsmouth, Sandwell and Wolverhampton).

We have also worked with Birmingham, Oxford, North Midlands, Southampton and Coventry Trusts to implement glioma pathways. These pathways have now been active for 6 – 12 months and are beginning to embed as standard practise.

This project work has created a successful blueprint that other Trusts can then access to set up their own pathways.


Where can I find out more?

Cancer Research UK (TNBC) – https://www.cancerresearchuk.org/about-cancer/breast-cancer/stages-types-grades/types/triple-negative-breast-cancer

Guide-to-requesting-WGS-cancer-Nov-20.pdf (hee.nhs.uk)


Illumina Whole Genome Sequencing –


Who can I contact?