The North East & Yorkshire and North Thames Genomic Medicine Services (GMS) are leading a national pilot to integrate circulating tumour DNA (ctDNA) testing into a routine NHS lung cancer pathway for the first time. This could help thousands of people receive earlier, more targeted, lung cancer treatments.

The test – which will be offered to 10,000 patients by next March – can identify genetic variants in a tumour through a simple blood sample.

Patients that receive CT scan results showing suspected lung cancer will have a small blood sample sent to a genomic laboratory at the Royal Marsden NHS Foundation Trust for ctDNA testing, with results returned in around 14 days.

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

The NHS England pilot, managed through the GMS, 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 2,000 patients with suspected lung cancer have had a ctDNA test over the first two phases of the pilot. The programme has just moved into stage 3 which aims to provide the test for 10,000 new patients up to March 2025.

Patient impact

Kat was a healthy and active 33-year-old when an extended migraine took her to her GP. Her doctor immediately sent her to Poole Hospital for tests. Within two hours of her arrival, she had scans and was speaking to oncology teams at the hospital, with the teams suspecting a lung cancer diagnosis.

A picture of Kat, who has benefited from ctDNA testing , with her daughter

On her second day in the hospital, Kat was told about the ctDNA pilot and agreed to take part. The team took her bloods and continued to run full diagnostic tests. Kat was diagnosed with Stage 4 non-small cell lung cancer, with tumours spreading to a total of 4 sites in her body.

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 find something or someone to blame. I wondered if I did this 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

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 pain 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