Circulating tumour DNA testing in the NHS

Cancerous tumours often release fragments of their DNA into the bloodstream (known as circulating tumour DNA) that through a liquid biopsy test can be sampled to identify key genetic drivers of the tumour.  

The NHS England pilot, managed through the Genomic Medicine Service, enables patients from 80 Trusts across England with suspected advanced lung cancer to have a ctDNA test before or at the same time as diagnostic biopsies are taken.  

The ctDNA test enables patients with key changes in their genome to access targeted treatments and avoid unnecessary chemotherapy, significantly improving their quality of life.

Prof Alastair Greystoke, Clinical lead of the ctDNA pilot and Honorary Medical Oncologist at The Newcastle upon Tyne Hospitals NHS Foundation Trust said: “It is fantastic that through collaborations across the Genomic Medicine Service we can look to bring cutting-edge genomic testing to patients in the NHS. This pilot study is already significantly impacting patient journeys across the country, giving them quicker access to precision medicine.”  

The pilot in depth

In the current clinical pathway for lung cancer diagnosis biopsies are used to confirm a diagnosis and histopathology samples can be sent for genomic testing. However, results from these tests can take several weeks to be returned, long after the biopsy confirms a cancer diagnosis, during which time patients’ health may get markedly worse.  This means patients are often immediately put onto standard chemotherapy treatments as soon as the biopsy confirms diagnosis, even if targeted treatments could be available.  

As part of this pilot study, ctDNA testing is run alongside the standard diagnostic pathway.  When patients with suspected stage 3/4 lung cancer first see a hospital doctor with the results of their scan and even before they have biopsies taken, they are also offered ctDNA testing. In this new pathway, the pilot teams aim to turn around the ctDNA testing within 14 days of receiving samples in the lab. This means key genetic mutations in the cancer can be identified much faster and those patients can access treatments earlier, sometimes even before the biopsy has been taken. 

Those targeted treatments can significantly improve quality of life for patients, improving survival and reducing side effects. 

Dr Michael Hubank, Scientific Lead for the North Thames Genomics Laboratory Hub and Joint Head of Clinical Genomics (Research) at the Royal Marsden NHS Foundation Trust said: “For many years research has highlighted the power liquid biopsies, like ctDNA, can have in cancer care and so it is fantastic to see that, through the Genomic Medicine Service, we can begin to integrate them into standard clinical pathways. Advanced genomics testing like this, brings us a step closer to providing precision medicine to patients in the NHS.”  

Over 2000 patients with suspected lung cancer have had a ctDNA test over the first two phases of the pilot. The programme has just moved into phase three which aims to provide the test for 10,000 new patients up to March 2025.  

Testing in phase one was carried out by commercial partners Roche and Guardant Health who have developed liquid biopsy technology.  The Royal Marsden has successfully worked with Guardant Health to move the technology into their laboratory to be able to deliver the testing in phase two and three within an NHS setting via the Marsden360 test.

“Those early weeks are a complete blur, my life changed so quickly, and I had to take on so much information. I went from going to the gym multiple times a week to having to wrap my head around the fact that doctors were talking about treatments to try and prolong my life” – Kat 

The ctDNA testing meant that within a week, her oncology team were also able to confirm that Kat had two rare mutations, ALK fusion and TP53, that were driving her cancer. 

“When I first heard my diagnosis, I spent a lot of time trying to understand if I did it to myself. Having the ctDNA test results back gave me a sense of relief that there was no one to blame, I couldn’t be angry about it.” – Kat 

Kat (right) with her sister (left)

The results didn’t just give Kat some peace of mind, they also meant that her clinical team were able to immediately ensure that she had access to treatments that specifically target the changes in the genome that drive her cancer.  

Kat is currently taking Brigatinib, a medicine that blocks cancer cells receiving the signal to divide. Doctors hope that this means Kat’s cancer will stop growing and spreading. 

“I know that these tablets will stop working one day but for now they are helping to keep my cancer in check, they are allowing me to carry on with my day-to-day. This treatment feels much better for me. I can do things with my family – I can be a Mum to my daughter. I even managed to take her trick-or-treating this year and we both want to make many more memories together” – Kat 

Kat, with her daughter and sister, dressed ready to trick-or-treat for Halloween

Dr Tom Geldart, Consultant medical oncologist at University Hospitals Dorset said: “The implementation of ctDNA testing into the NHS for patients with lung cancer is an enormous step forward. Our ability to detect genetic changes in the make up of an individual’s cancer from a simple blood test is already proving transformative for patient care”

Looking to the future

Alongside the clinical impact, the pilot study also includes an in-depth independent health economic assessment, in partnership with Edge Health, to understand how integration of the test impacts the patient pathway. Data being collected from the pilot will be analysed by clinical teams and Edge Health to allow NHS England to decide whether ctDNA testing should be commissioned on the genomic national test directory. This will ensure all suitable patients in England who have equitable access to the test.

Although currently only being investigated in lung cancer, the teams also hope to use the pilot as a steppingstone to understand how similar liquid biopsy tests could be used in other cancers.