Patients with secondary cancer where the source of the disease cannot be found can qualify for extra testing after a successful research study that involved The Clatterbridge Cancer Centre (CCC).
Patients with Cancer of Unknown Primary (CUP) in England can now benefit from wider access to genomic testing after evidence from the EGG-CUP study helped support a major change in routine NHS care.
Circulating tumour DNA (ctDNA) testing and tissue genomic testing have been added to the NHS Genomic Test Directory for eligible patients with CUP, making them available as standard of care in England.
CUP is diagnosed when cancer has spread in the body but doctors cannot identify where it started. It is a complex and historically under-researched cancer type, with limited treatment options for many patients because the primary tumour is difficult to find.
The EGG-CUP study, whose full title is Enabling Genomic Testing in Cancer of Unknown Primary, is an observational research study supported by The Clatterbridge Cancer Centre and other NHS partners across the North West.
The study is led by CCC’s Dr Eliyaz Ahmed and Acute Oncology Nurse Consultant Alison Taylor, with help by support worker Sarah Turner. It explores whether liquid biopsies, which use a blood sample to look for DNA released by cancer cells, can help identify the likely origin of a patient’s cancer and detect genetic changes that could inform treatment decisions.
The study aimed to recruit around 100 patients and has helped generate real-world evidence to support the introduction of a national testing pathway. The change means future eligible patients with CUP may have better access to diagnostic information, more personalised treatment options and potential routes into clinical trials.
Kathryn Hughes, CCC’s Observational Research Lead, said: “This is a really positive outcome for patients and a great example of how observational research can make a direct difference to clinical care. EGG-CUP has helped provide evidence to support the implementation of ctDNA and tissue testing as part of routine NHS pathways for CUP.
“It is excellent news that this testing has become available as standard care and we are proud that research supported here at Clatterbridge is helping to improve access to testing for future patients.”
Dr Eliyaz Ahmed, Consultant in Medical Oncology and Principal Investigator for EGG-CUP at CCC, said: “CUP can be incredibly challenging for patients and clinical teams because we often have limited information about where the cancer began and which treatment may work best.
“Improving access to genomic testing gives us another important tool to understand the biology of a person’s cancer. It has the potential to guide more informed treatment decisions, identify targeted options where appropriate and give patients access to research opportunities that may not otherwise have been available.”
The new testing pathways form part of the continued expansion of genomic medicine in the NHS. The National Genomic Test Directory sets out which genomic tests are commissioned in England and is designed to ensure eligible patients can access testing where results are likely to inform their care.
