By Lina carolina 
Scientists and medics have developed an ultra-rapid method of genetically diagnosing brain tumours that will cut the time it takes to classify them from 6-8 weeks, to as little as two hours — which could improve care for thousands of patients each year in the UK. This groundbreaking development promises to alleviate immense patient anxiety, enable faster treatment initiation, and potentially improve surgical outcomes by providing critical diagnostic information in near real-time.
A Paradigm Shift in Neuro-Oncology Diagnostics
The innovative approach, detailed in a recent study published in the esteemed journal Neuro-Oncology, is the result of a collaborative effort between researchers at the University of Nottingham and clinicians at Nottingham University Hospitals NHS Trust (NUH). This pioneering technique has demonstrated a remarkable 100% success rate in preliminary trials, delivering precise tumor classifications within minutes of genetic sequencing and a comprehensive diagnosis in under two hours from the time of surgical sample collection. The platform’s advanced capabilities even allow for continuous sequencing, enabling a fully integrated diagnostic report within a 24-hour period.
The Urgent Need for Speed: The Brain Tumour Burden in the UK
The statistics surrounding brain tumours underscore the critical importance of this new diagnostic method. In the United Kingdom, an alarming average of 34 individuals are diagnosed with some form of brain tumour daily, translating to over 12,000 new cases annually. The prognosis for many of these diagnoses, particularly for the most aggressive forms of brain cancer, can be grim, with average survival rates sometimes falling below a year.
Traditionally, the diagnostic process for brain tumours has been a protracted and arduous journey. The complexity of these growths necessitates intricate genetic testing, which has historically required samples to be sent to centralized, specialized analysis facilities. This logistical chain often results in waiting periods of six to eight weeks, or even longer, for definitive results. During this agonizing interval, patients are left in a state of profound uncertainty, unaware of the precise nature of their illness and their potential prognosis. This prolonged delay is not only emotionally devastating but also critically impedes the timely commencement of essential treatments such as radiotherapy and chemotherapy, potentially diminishing their efficacy and impacting survival chances.
The Nottingham Breakthrough: Accelerating the Diagnostic Pipeline
The team of experts at the University of Nottingham and NUH has engineered an ultra-rapid genetic diagnostic method designed to obliterate this debilitating delay. The speed of this new technology is so transformative that it can yield diagnostic results within a mere couple of hours. Crucially, this information can be made available to surgeons even during the operation itself, empowering them to make more informed surgical decisions in real-time.
Dr. Stuart Smith, a Neurosurgeon affiliated with the School of Medicine at the University of Nottingham and NUH, highlighted the significance of this advancement. "Traditionally, the process of diagnosing brain tumours has been slow and expensive," Dr. Smith stated. "Now, with this new technology, we can do more for patients because we can get answers so much more quickly, which will have a much bigger influence on clinical decision-making, in as little as two hours. Patients find waiting many weeks for results extremely difficult, and this adds to the anxiety and worry at what is already a very difficult time."
Dr. Smith further elaborated on the intraoperative potential of the technology: "This type of operation can be quite long, so potentially, a surgeon could be informed during surgery of the accurate diagnosis, which would then impact on the surgical strategy." This capability could lead to more precise tumor resection, potentially sparing critical healthy brain tissue and improving functional outcomes for patients.
From Specimen to Diagnosis: A Revamped Workflow
The established treatment pathway for suspected brain tumours typically begins with an MRI scan to identify the presence of a growth. Following this, patients consult with clinicians to discuss potential tumor types. For many individuals, surgery is then performed to obtain a tumor sample. Historically, this sample would be dispatched to centralized laboratories for analysis, where experts would examine the DNA for abnormalities to determine the specific tumor classification.
While in the past, neuropathologists relied heavily on visual examination of specimens, the field has evolved significantly. Tumours are now increasingly categorized based on their genetic and DNA abnormalities. However, this molecular classification has traditionally been a slow process due to inherent technological limitations in genetic sequencing and analysis.
The Power of Nanopore Sequencing: A Technological Leap
The cornerstone of this revolutionary diagnostic speed lies in a novel method developed by Professor Matt Loose, a biologist from the University of Nottingham’s School of Life Sciences. Professor Loose’s work leverages the capabilities of Oxford Nanopore Technologies’ portable sequencing devices. This method allows for the rapid sequencing of specific, targeted regions of human DNA at a much higher depth than previously feasible. By focusing on critical genetic markers, the entire diagnostic process is dramatically accelerated, enabling multiple regions of DNA to be sequenced concurrently.
The team has successfully adapted this method for the genetic testing of brain tumor samples. The technology, powered by ROBIN software and utilizing P2 PromethION nanopore sequencers, works by detecting minute changes in electrical current flow as individual DNA molecules pass through a tiny pore in a membrane.
Professor Loose explained the evolution of this technology: "When we first were able to sequence an entire human genome in 2018, it took around five labs and six months to do, which obviously isn’t ideal when time is of the essence for a patient. This new method now allows us to choose the bits of DNA that we need to look at in order to answer specific questions, such as what type of tumour and how it can be treated. Combined with our later research where we were able to look at relevant parts of the human genome more quickly – then we now have a process where we can use ROBIN to create comprehensive classifications of tumours more quickly."
He further elaborated on the immediate diagnostic insights gained: "Once we have a sample from a patient, we can now quickly extract the DNA and look at the different properties to give us the information we need. Methylation is the one we are most interested in early on in this instance because that defines the tumour type." Methylation patterns are critical epigenetic markers that play a significant role in tumor development and classification.
Clinical Validation and Future Rollout
The practical application of this technology has been rigorously tested. Following surgical removal, tumor samples are sent to the pathology lab for DNA extraction before being transferred to Professor Loose’s team for sequencing. The clinical utility was demonstrated during 50 brain tumor surgeries at NUH, where the new approach was employed for rapid, intraoperative diagnoses. The results were consistently swift and accurate, providing detailed tumor classifications within minutes of sequencing.
Dr. Simon Paine, a Consultant Neuropathologist at NUH, hailed the development as a significant breakthrough. "This new method of diagnosing brain tumours is going to be a game changer; it really is revolutionary," Dr. Paine commented. "It not only increases the speed at which the results will be available, but the degree of accuracy of the diagnosis as well is incredible."
The team’s ambition extends beyond the success achieved at NUH. They are now actively pursuing the widespread adoption of this new testing protocol across NHS Trusts throughout the United Kingdom.
Economic and Equity Implications
Beyond its speed and accuracy, Professor Loose highlighted another significant advantage: cost-effectiveness. "Not only is the test more accurate and quicker, but it is also cheaper than current methods," Professor Loose stated. "Our calculations stand at around £450 per person, potentially less when scaled-up. There are a few reasons for this. Our method can eliminate the need for four to five separate tests, reducing costs as a consequence as we are getting more information from the single test we do. Most importantly, it delivers results to the patients when they need them."
This cost reduction is attributed to the integrated nature of the new test, which consolidates the information typically gathered from multiple, sequential laboratory analyses into a single, comprehensive genetic assessment.
The Brain Tumour Charity has also expressed strong support for this transformative technology. Dr. Simon Newman, Chief Scientific Officer at The Brain Tumour Charity, remarked, "The delivery of an accurate diagnosis within hours of surgery will be transformative for all patients, ensuring rapid access to the optimal standard of care and – crucially – removing the uncertainty patients face when having to wait weeks for their diagnosis and prognosis."
Dr. Newman further emphasized the potential for equitable access to advanced diagnostics: "The potential to combine so many separate tests into one and deliver at a localized level is a game-changer for driving equity of access to rapid and accurate molecular diagnosis. The BRAIN MATRIX Trial, funded by the Brain Tumour Charity, is now exploring how this technology can match patients to personalized clinical trials across the UK." This initiative underscores the broader impact of the technology in facilitating personalized medicine and advancing clinical research for brain tumor patients. The integration of this rapid diagnostic capability into clinical trials could accelerate the identification of suitable participants and the evaluation of novel therapeutic strategies.
