NHS England have announced that a new liquid biopsy genomic test, that shortens the diagnosis pathway and saves the NHS money, will be offered to eligible patients across the country.
May 30, 2025
Around 20,000 people currently undergo testing in England each year for suspected lung cancer and targeted therapies for those with a diagnosis are becoming increasingly available. Access to targeted therapies requires identification of a genetic driver of the cancer. The standard of care tissue pathway can take 4 weeks to give clinicians and patients those answers.
Since January 2023, the NHSE Genomics Unit and the Genomic Medicine Service (GMS) have been running a pilot study to integrate liquid biopsy testing (also known as circulating tumour DNA testing) into the non-small cell lung cancer diagnostic pathway to assess the feasibility of a national service.
Outputs from the pilot study have shown that the testing not only means that genomic results can be returned much earlier (approx. 2-3 weeks), but an independent health economic assessment also concluded the test could contribute net savings of £11 million per year for the NHS.
Now eligible patients from across England will all have access to the test, as it is added to the National Genomic Test Directory, making the NHS the first healthcare service of its kind to integrate liquid biopsy into a diagnostic pathway.
‘Being part of the project team that has taken this test from a small pilot to now a nationally available test has been fantastic. The collaboration across the Genomic Medicine Service, clinical teams and industry partners has enabled us to bring cutting-edge testing to patients who need it most. We hope that this project serves as a roadmap for bringing liquid biopsy testing to other cancer pathways.’ – Professor Sanjay Popat, Consultant Medical Oncologist at the Royal Marsden NHS Foundation Trust.
How the testing works
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.
In the standard clinical pathway for lung cancer diagnosis, a tissue biopsy is used to confirm a histological diagnosis and genomic profiling results. However, results from the genomic test can take several weeks to be returned, long after the biopsy confirms a cancer diagnosis, during which time patients’ health may deteriorate considerably. This means patients are often immediately prescribed standard chemotherapy treatments as soon as the biopsy confirms a diagnosis, even if targeted treatments could be available.
Liquid biopsy testing will now be offered alongside the tissue diagnostic pathway. When patients with suspected stage 3/4 lung cancer first see a hospital doctor, they will be offered the liquid biopsy testing alongside current tissue testing. This means key genetic changes in the cancer can be identified much faster and patients can access treatments earlier in the pathway, sometimes even before the tissue biopsy is taken.
The targeted treatments can significantly improve quality of life for patients, improving survival and reducing unwanted side effects.
In early stages of the ctDNA pilot, testing was carried out by commercial partners, Foundation One and Guardant Health. After successful technology transfers by NHS genomic laboratory teams, national testing is currently carried out by North Thames and North West Genomic laboratory Hubs at the Royal Marsden NHS Foundation Trust and Manchester University NHS Foundation Trust respectively.
‘It has been amazing to watch our incredible teams at The Royal Marsden laboratory, part of the North Thames Genomic Medicine Service, work to bring this testing from research to an NHS lab. We worked closely with industry partners to bring the technology in-house and are now able to scale up testing to ensure patients across the country can get the results they need as fast as possible’ – Dr Michael Hubank, Scientific Director of the North Thames Genomic Medicine Service.
Expanding liquid biopsy testing
Following on from the success and learnings from the lung cancer pilot study – in 2023, as part of their Genomics Networks of Excellence, NHSE established a Circulating Biomarker network to look at how liquid biopsy testing could be extended to use in other cancers.
Since the network began, the team have helped to roll out liquid biopsy testing for patients diagnosed with a certain type of advanced breast cancer that has become resistant to hormone treatment. The liquid biopsy test results provide vital information about whether the patient is eligible for newly available targeted treatments.
As well as being integrated into a diagnostic pathway, like in the non-small cell lung cancer pilot, and for treatment decisions, like for breast cancer patients, the network is also investigating how liquid biopsy testing could be used for cancer surveillance monitoring. In certain cancers, like germ cell tumours, there is evidence that liquid biopsy tests can identify cancer relapse or recurrence.
Patient impact
Jason was diagnosed with a non-small cell lung cancer in December 2023 and took part in the lung ctDNA pilot study during his diagnosis.
Jason had no history of lung cancer in the family, led a healthy lifestyle – even holding a senior position at a fitness company, and so when he started experiencing severe back pain, a lung cancer diagnosis was not his first thought. His clinical team offered him a liquid biopsy test during his diagnosis.
“My liquid biopsy test was carried out at the same time as my biopsy. The biopsy took sample from my lung, after the previous sample from my neck was not sufficient sample size. The liquid biopsy was a painless blood test whereas the biopsy from my lung put me back in hospital with pain that night.
The wait from finding out the tumour is cancer, then two biopsies, scans etc. with 3 stays in hospital felt a lifetime. This period puts so much on you and loved ones, as well as living in pain. The liquid biopsy results came back within weeks and treatment started the day my results were known.” – Jason
Jason’s liquid biopsy tests showed that he has an EGFR mutation, meaning he was eligible for a targeted treatment for his cancer rather than needing intensive chemo and radiotherapy. The targeted treatment he was offered allowed him to have treatment at home and spend Christmas 2023 with his family.
“I would encourage every eligible patient going through a potential lung cancer diagnosis to ask for this test. The confidence from doctors and nurses on treatment plan, the speed of results being most personal – you are in a period of so much uncertainty the faster and accurate results the better. It’s hard to explain how time stops while waiting to get a treatment, time with loved ones and preparing yourself for an outcome and anything that speeds up that process, makes such a huge difference.” – Jason
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