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DNA Test Diagnoses Brain Tumors in Hours, Not Weeks

Scientists at the University of Nottingham have developed a genetic test that can diagnose brain tumors in as little as two hours, slashing the traditional wait time of 6-8 weeks. This breakthrough could transform care for thousands of patients each year, removing the agonizing uncertainty of lengthy wait times and potentially improving treatment outcomes.

The method, detailed in a study published May 21 in Neuro-Oncology, uses innovative nanopore sequencing technology to rapidly analyze tumor DNA and deliver accurate diagnoses during surgery. In clinical testing across 50 brain tumor operations, the approach achieved a remarkable 100% success rate, providing diagnostic results in under two hours from surgery.

For patients like Charles Trigg, a 45-year-old from Leicestershire diagnosed with an aggressive stage 4 glioblastoma in April, such speed makes a profound difference. While still waiting for his genetic test results through traditional methods, the new technology delivered his results in just one week.

Why Speed Matters for Brain Tumor Patients

Brain tumors strike with devastating frequency – 34 people are diagnosed daily in the UK alone, amounting to over 12,000 cases annually. For the most aggressive forms, average survival can be less than a year, making rapid diagnosis and treatment initiation critically important.

Traditional diagnostic pathways have been hampered by technological limitations. Brain tumors require complex genetic tests that typically must be sent to specialized facilities, creating extensive delays before patients learn what type of tumor they have and what their prognosis might be.

Could faster diagnosis actually save lives? The Nottingham researchers believe so, noting that long waiting periods not only cause psychological distress but may actively reduce treatment effectiveness by delaying the start of radiotherapy and chemotherapy.

How the Test Works: DNA Sequencing in Real-Time

The new method, named ROBIN (Rapid nanopOre Brain intraoperatIve classificatioN), utilizes portable DNA sequencing devices developed by Oxford Nanopore Technologies. Rather than examining cells visually under a microscope, the system categorizes tumors by their unique DNA and genetic abnormalities.

Dr. Stuart Smith, a Neurosurgeon from the School of Medicine at the University and Nottingham University Hospitals NHS Trust, explains the significance: “Traditionally, the process of diagnosing brain tumors 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.”

The test is so rapid it can provide results while surgery is still ongoing, potentially allowing surgeons to adjust their approach based on real-time information about the specific tumor type.

From Laboratory to Patient Care

Professor Matt Loose, a biologist from the School of Life Sciences who helped develop the technology, explained how they accelerated a previously time-consuming process: “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.”

The team’s innovation allows them to focus specifically on the relevant parts of DNA that answer critical diagnostic questions. The system examines methylation – chemical markers on DNA that help identify tumor types – to quickly classify the cancer.

Key advantages of the new system include:

  • Near-instant diagnosis compared to weeks of waiting
  • Greater diagnostic accuracy than traditional methods
  • Lower cost than current testing approaches
  • Results available during surgery to guide surgical decisions
  • Integration of multiple tests into a single comprehensive analysis

Patient Experience: Knowledge is Power

For patients enduring the agonizing wait for diagnosis, the psychological impact of faster results cannot be overstated. Charles Trigg, who benefited from the new technology, described his experience: “From my point of view – to have knowledge is power and it could be the worst knowledge you have, but it gives you certainty and having that certainty actually makes life a hell of a lot easier.”

He added: “The fact they’ve been able to get back data very quickly that allows an extensive team of people to conduct detailed reviews feels like an amazing blend of science and medicine.”

Dr. Simon Paine, a Consultant Neuropathologist at Nottingham University Hospitals, was unequivocal about the technology’s importance: “This new method of diagnosing brain tumors 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.”

Beyond Speed: Enhanced Accuracy and Lower Costs

The researchers stress that the method isn’t just faster – it’s also more accurate and potentially more cost-effective than current approaches. Their calculations indicate a cost of around £450 per patient, likely less when scaled up.

“Not only is the test more accurate and quicker, but it is also cheaper than current methods,” said Professor Loose. “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.”

The technology could be particularly valuable in settings with fewer resources, democratizing access to advanced brain tumor diagnostics outside major medical centers.

The Future: National Implementation

The Nottingham team is now working to roll out the technology across NHS Trusts throughout the UK. The Brain Tumor Charity, which funds research in this field, sees immense potential in the approach.

Dr. Simon Newman, Chief Scientific Officer at The Brain Tumor Charity, said: “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.”

As this technology moves from research to clinical implementation, thousands of brain tumor patients each year may soon benefit from dramatically shortened diagnosis times – turning an agonizing weeks-long wait into just a few hours, and potentially opening the door to earlier, more effective treatments that could extend and improve lives.

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