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Whole Genome Sequencing

May 20, 2022

On our previous post we wrote on 5 May:

Clinicians are now able to request whole genome sequencing (WGS) at the North West NHS Genomic Laboratory Hub for eligible patients with CUP in their care. This is a very significant step forward and excellent news. We are trying to find out from the NHS National Genomic Medicine Service whether WGS in tissue extends to other regions.

We have had a response from the Genomics Unit, Specialised Commissioning, NHS England:

NHS England and NHS Improvement are currently working with the NHS Genomic Laboratory Hubs (GLHs) to support the implementation of Whole Genome Sequencing (WGS) in the NHS in a phased approach. The second phase of delivery that is currently live and included in the National Genomic Test Directory includes WGS for adult cancer patients who have exhausted all standard of care testing and treatment (Cancer Test Directory code M232) for which CUP patients are eligible. As this is a new service that is being implemented it would be best to advise at this stage that clinicians do get in touch with their local NHS Genomic Laboratory Hub if they have any questions in advance of submitting samples and to ensure they have the correct paperwork that is required around consent and ordering the test.

Jo’s friends comment:  It is particularly worrying that the official response includes ‘exhausted all standard of care testing and treatment’ in respect of CUP patients. We have always argued that this should be early in the pathway – it is the only time it makes sense in CUP terms rather than ticking the box ‘exhausted standard of care’ at a late stage. It is early days and there are logistical issues but hopefully a clearer and more usable policy will emerge with experience and oncologists pressing their local GLHs. We have written to NHS England Genomics Unit asking that this policy be reviewed, with justification, so that the critically important wording in the all important ‘Test Directory’ is adjusted.


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