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.
A New Era in Neuro-Oncology Diagnostics
A groundbreaking advancement in the diagnosis of brain tumours, detailed in a new study published today in Neuro-Oncology, promises to dramatically accelerate the classification of these complex and often aggressive cancers. Developed by a collaborative team of scientists at the University of Nottingham and clinicians at Nottingham University Hospitals NHS Trust (NUH), this novel approach slashes diagnostic timelines from the current agonizing wait of six to eight weeks down to a remarkable two hours. This swift turnaround is poised to revolutionize patient care, offering timely information that can directly influence surgical strategies and the initiation of critical treatments, potentially saving lives and improving outcomes for thousands of individuals annually across the United Kingdom.
The implications of this accelerated diagnostic capability are profound. Brain tumours, a devastating diagnosis for over 12,000 individuals in the UK each year – approximately 34 people every day – often carry a grim prognosis, with survival rates for the most aggressive forms averaging less than a year. The traditional diagnostic pathway, which involves sending tissue samples to centralized laboratories for complex genetic testing, has been a significant bottleneck, not only prolonging patient anxiety but also delaying the commencement of life-saving therapies like radiotherapy and chemotherapy. This new method, validated during 50 intraoperative surgeries at NUH with a 100% success rate, offers a lifeline by providing detailed tumour classifications within minutes of sequencing, and a fully integrated diagnosis within 24 hours.
The Problem with Traditional Diagnostics: A Race Against Time
For decades, the diagnosis of brain tumours has been a protracted and arduous process. Following an initial MRI scan that identifies a potential tumour, patients undergo consultations with clinicians to discuss possible diagnoses. For many, the next crucial step involves surgery to obtain a tissue sample. This sample, once collected, is then dispatched to specialized, centralized laboratories. Here, a complex battery of genetic tests is performed to identify specific DNA abnormalities that are instrumental in categorizing the tumour type and predicting its behaviour.
Historically, neuropathologists relied heavily on visual examination of tissue under a microscope to identify cellular characteristics. However, in recent years, the field has shifted towards molecular and genetic profiling, recognizing that DNA alterations are far more precise indicators of tumour type and aggressiveness. This shift, while scientifically beneficial, introduced a new challenge: the time-consuming nature of advanced genetic sequencing and analysis. The technological limitations meant that obtaining comprehensive genetic information could take upwards of six to eight weeks, a period fraught with anxiety and uncertainty for patients and their families. This delay not only impacts psychological well-being but also critically hinders the timely initiation of targeted treatments. Early intervention is paramount in cancer care, and any delay can potentially diminish the efficacy of therapies, thereby reducing the chances of successful treatment and long-term survival.
The Nottingham Innovation: A Technological Leap Forward
The breakthrough achieved by the University of Nottingham and NUH stems from the innovative application of portable sequencing technology and sophisticated bioinformatic tools. Professor Matt Loose, a biologist from the School of Life Sciences at the University of Nottingham, spearheaded the development of a method that allows for the high-depth sequencing of specific regions of human DNA. This was made possible through the use of Oxford Nanopore Technologies’ portable sequencing devices. This technology enables the examination of relevant genomic areas much more rapidly and allows for the simultaneous sequencing of multiple DNA regions, drastically accelerating the entire diagnostic workflow.
The team has now successfully adapted this method for the genetic testing of brain tumour samples. The core of this rapid sequencing capability lies in the ROBIN platform, which utilizes P2 PromethION nanopore sequencers. These devices work by detecting minute changes in electrical current as individual DNA molecules pass through tiny pores, or nanopores, in a membrane. This real-time detection allows for the rapid acquisition of sequencing data.
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 can it 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."
Crucially, the method focuses on key genetic markers, particularly DNA methylation patterns, which are highly informative for tumour classification. "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," Professor Loose elaborated. This targeted approach eliminates the need to sequence the entire genome, further streamlining the process and delivering actionable diagnostic information within hours.
Intraoperative Diagnosis: A Surgeon’s New Ally
The potential for this ultra-rapid diagnostic method to be utilized directly during surgery marks a significant paradigm shift. Dr. Stuart Smith, a Neurosurgeon from the School of Medicine at the University and within NUH, highlighted the transformative impact this could have on surgical decision-making. "Traditionally, the process of diagnosing brain tumours has been slow and expensive. 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," he stated.
The ability to provide surgeons with an accurate diagnosis while the patient is still on the operating table opens up unprecedented possibilities. "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," Dr. Smith explained. This real-time information can help surgeons make more informed decisions about the extent of tumour resection, potentially maximizing the removal of cancerous tissue while minimizing damage to healthy brain structures. This intraoperative precision can lead to better patient outcomes and reduce the need for subsequent surgeries.
The NUH team has already piloted this approach in 50 brain tumour surgeries, achieving a perfect success rate. This real-world validation demonstrates the robustness and reliability of the technology in a clinical setting.
Beyond Speed: Accuracy, Cost-Effectiveness, and Equity
The benefits of this new diagnostic method extend beyond just speed. Dr. Simon Paine, a Consultant Neuropathologist at NUH, emphasized the dual advantages of both accelerated timelines and enhanced diagnostic accuracy. "This new method of diagnosing brain tumours is going to be a game changer, it really is revolutionary. 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," he remarked.
Furthermore, Professor Loose pointed out the significant cost-effectiveness of the new approach. "Not only is the test more accurate and quicker, but it is also cheaper than current methods," he 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, particularly when the technology is scaled up, could make advanced molecular diagnostics more accessible to a wider patient population.
The potential for this technology to be implemented at a localized level is also a significant step towards addressing health inequities. Dr. Simon Newman, Chief Scientific Officer at The Brain Tumour Charity, commented on this crucial aspect: "The potential to combine so many separate tests into one and deliver at a localised level is a game changer for driving equity of access to rapid and accurate molecular diagnosis." Historically, access to advanced diagnostic capabilities has been concentrated in major research institutions. This portable and efficient method could democratize access, ensuring that patients across the UK, regardless of their geographical location, receive timely and accurate diagnoses.
The Future of Brain Tumour Treatment: Personalized Medicine and Clinical Trials
The development of rapid, accurate, and cost-effective genetic diagnostics for brain tumours is a cornerstone for the advancement of personalized medicine in neuro-oncology. By understanding the precise genetic makeup of a tumour within hours, clinicians can tailor treatment strategies to the individual patient’s needs. This includes selecting the most effective chemotherapies, immunotherapies, or targeted agents, and potentially identifying patients who would benefit most from participation in clinical trials.
Indeed, The Brain Tumour Charity is actively involved in exploring the broader applications of this technology. "The BRAIN MATRIX Trial, funded by the Brain Tumour Charity, is now exploring how this technology can match patients to personalised clinical trials across the UK," Dr. Newman revealed. This trial aims to leverage the rapid diagnostic capabilities to quickly identify eligible patients for cutting-edge treatment protocols, thereby accelerating the pace of research and drug development.
The successful implementation of this ultra-rapid diagnostic method across NHS Trusts nationwide could herald a new era in brain tumour care. By reducing diagnostic delays, improving treatment efficacy, and facilitating access to personalized therapies and clinical trials, this innovation holds the promise of significantly improving survival rates and the quality of life for thousands of brain tumour patients each year. The collaborative spirit between academia and healthcare providers, exemplified by the work of the University of Nottingham and NUH, underscores the power of scientific research to deliver tangible improvements in patient outcomes.