A world-first NHS pilot of a rapid genomic test that allows doctors to diagnose what type of brain tumour a patient has within 24 hours is being expanded across England, supported by a collaborative team in Birmingham.

Brain tumours are notoriously difficult to diagnose and treat, and there are more than 100 different types ranging from slow-growing tumours to aggressive cancers.

The standard diagnostic process involves MRI and CT scans followed by extracting a tumour sample. This is taken away for testing in a pathology lab which can take weeks to return a result and diagnose the tumour type.

The new test means that patients can receive a definitive brain tumour diagnosis in less than a day, rather than the current average of 26 days.

A two-year pilot has been made possible as part of a new Network of Excellence for Rapid Diagnosis in Brain Tumours, co-led by the NHS Central and South Genomic Medicine Service and NHS East Genomic Medicine Service, which has received £2.1m from NHS England. The pilot will explore the success and feasibility of offering the test within a clinical setting, with the aim of rolling out the test to all neuropathology centres in England to benefit all patients as soon as possible.

Dr Victoria Wykes, Associate Clinical Professor of Neurosurgery at the University of Birmingham and Honorary Consultant Neurosurgeon at Queen Elizabeth Hospital Birmingham (QEHB), is now Clinical Lead of the new Network of Excellence for Rapid Diagnosis in Brain Tumours. She said: “Achieving a rapid diagnosis of brain tumours represents an absolute game-changer for our patients. It will reduce the time that patients and their loved ones have to wait to understand what the life-changing diagnosis means and accelerate the speed of accessing treatment, therapies and clinical trials. The test can also allow surgeons to receive the diagnosis during operations to remove tumours, enabling them to tailor the surgery according to the tumour type while the patient is still in theatre.

“Partners across Birmingham’s Health and Life Sciences Quarter will come together to play a vital role in leading the clinical operational delivery of this new genetic test within the NHS, evaluating its use in clinical settings where it will hopefully have incredible results for patients in Birmingham and the Midlands.”

BHP’s founding members the University of Birmingham and University Hospitals Birmingham NHS Foundation Trust (which operates QEHB), have the existing infrastructure needed to rapidly analyse tumour samples during surgeries. This is thanks to an established tissue pipeline and significant genomics expertise in brain cancer, already used for research.

The Birmingham-based team from the hospital and university will lead on examining and evaluating how to make clinical practice of the new test a reality, focusing on health economics, implementation science and genomic training within the programme.

Clinical leadership for the Network of Excellence comes from the University of Birmingham and University Hospitals Birmingham, with scientific leadership from the University of Nottingham, whose researchers invented the test, and Nottingham University Hospitals Trust. Teams across these establishments, as well as the South-East and North Thames Genomic Medicine Services, have all had a significant role in shaping the Network of Excellence.

Further expanding on the importance of feasibility testing, Dr Wykes explained: “Through the strength of our network, we will seek to validate the effectiveness of the tools for rapid genomic diagnosis of brain tumours, and determine how we make rapid diagnosis work in the real world. By the end of the programme, we will be able to make recommendations for the tools to be commissioned by the NHS, helping to unleash the full potential of this new test.”

The NHS England pilot builds on the successful pilot already underway in Birmingham and Nottingham and will initially take the technology into five specialist centres before expanding further across England.

The first phase will introduce the testing across University Hospitals Birmingham NHS Foundation Trust, Nottingham University Hospitals NHS Trust, Great Ormond Street Hospital for Children NHS Foundation Trust, King’s College Hospital NHS Foundation Trust and Newcastle Hospitals NHS Foundation Trust.

Additional genomic laboratory sites in Bristol, Oxford, Leeds and Manchester will join in the second phase.

More than 9 in 10 patients who had bladder cancer were picked up through a non-invasive urine test after urgent referral, a new study has found.

Study of 964 patients across seven NHS urology units found that the test detected 71 of 77 bladder cancers (92.2%) among the nearly 1,000 patients. The study, led by the University of Birmingham and Nonacus Ltd, investigated the real-world significance of testing for bladder cancer using a commercially available urine test –  GALEAS™ Bladder, which tests genomic information from a patient’s urine for traces of bladder cancer.

The peer-reviewed results have been published in European Urology Oncology, and showed significant results for detecting cancer as well as its use as a screening tool.

GALEAS Bladder detected all 17 muscle-invasive bladder cancers (100%) and 35 of 36 high-grade cancers (97.2%) diagnosed during the study. Meanwhile, a negative result was associated with a 99.3% probability of not having bladder cancer.

For the 30% of patients in the study with blood in their urine but which was not visible to the naked eye (non-visible haematuria), GALEAS Bladder identified all bladder cancers (100%) with a negative result associated with a 100% probability of not having bladder cancer.

Professor Richard Bryan, Director of the University of Birmingham’s Bladder Cancer Research Centre and co-author of the study, said: “We have spent many years developing and evaluating the science behind detecting bladder cancer through DNA in urine with support from Cancer Research UK and philanthropists, ultimately leading to the development of the GALEAS Bladder test by Nonacus. This prospective study shows that the very promising early performance has now been reproduced across multiple NHS centres and in a large real-world patient population.

“GALEAS detected 35 of 36 high-grade cancers and every muscle-invasive cancer diagnosed in the study. These results show that molecular urine testing can be used now to help clinicians decide which patients need an urgent cystoscopy and which can safely have that procedure deferred.

“The results are very significant for clinical practice. Only 8% of patients in the study were ultimately diagnosed with bladder cancer, which highlights the challenge facing NHS haematuria services where large numbers of patients currently enter the same urgent diagnostic pathway despite most not having cancer. GALEAS is a promising and less invasive test that can be easier to administer and make testing and screening for bladder cancer far easier.”

The GALEAS test was used in the study alongside a typical way to test for bladder cancer using a technique called cystoscopy. In a cystoscopy test, a camera is passed through the urethra to examine the bladder. The procedure is an important part of bladder cancer diagnosis, but Professor Bryan, a former clinical urologist, notes that the procedure is invasive and resource intensive.

GALEAS Bladder uses DNA found in a urine sample to help clinicians identify patients at greater risk who should be prioritised for urgent cystoscopy, while allowing cystoscopy to be deferred for some patients at lower risk where clinically appropriate.

Lee Silcock, Co-founder and Chief Product Officer at Nonacus and co-author of the study, said: “Seeing GALEAS perform so strongly across almost 1,000 patients in seven NHS urology departments is extremely encouraging. This is real-world evidence from the patients and pathways the test has been designed to support.”

“What matters most is identifying those most likely to have cancer sooner, while giving clinicians confidence when deciding which patients can safely wait for a cystoscopy. The fact that the test detected every muscle-invasive cancer in the study, alongside a negative predictive value of more than 99%, gives us further confidence in the role GALEAS can play in supporting NHS diagnostic pathways.”

The study also found that incorporating urine-based testing in bladder cancer pathways could reduce the burden on urology departments. At the most cautious pre-specified clinical threshold, using GALEAS Bladder to triage patients was estimated to result in 730 fewer urgent cystoscopies for every 1,000 patients, compared with urgent cystoscopy for everyone, with no loss of net clinical benefit.

GALEAS Bladder is already being used within NHS pathways in England and Wales, with further NHS sites adopting the test as clinical use expands.