New genetic test could diagnose brain tumours in as little as two hours 

Nicola Gale 3 min read

Scientists and medics at the University of Nottingham and Nottingham University Hospitals NHS Trust (NUH) have developed a new rapid method of genetically classifying brain tumours, which could reduce the current diagnosis time of six to eight weeks to as little as two hours.  

The breakthrough, detailed in a new study published today in Neuro-Oncology, could improve care for thousands of patients in the UK each year. 

Brain tumours require complex genetic tests to diagnose, and currently clinicians have to send away a sample of the tumour to be tested to inform patients what type of tumour they have and their prognosis. This lengthy wait can be agonising for patients and their families, and can delay the start of radiotherapy and chemotherapy, which may reduce the chances of treatment working.   

Now, however, Professor Matt Loose, a biologist from the School of Life Sciences at the University of Nottingham has developed a method to sequence specific parts of human DNA using Oxford Nanopore Technologies portable sequencing devices. The approach enables scientists to focus on specific DNA segments relevant to a diagnosis, rather than sequencing the entire genome and, as a result, it allows relevant parts of the human genome to be examined much more quickly, and multiple regions of DNA sequenced at the same time – speeding up the whole process. 

In the paper published today, the team used this new approach to test brain tumour samples during 50 brain tumour surgeries to deliver swift, intraoperative diagnoses. They achieved a 100% success rate, providing diagnostic results in under two hours from surgery and detailed tumour classifications within minutes of sequencing. The technology was also shown to capable of delivering a fully integrated diagnosis within 24 hours.  

Professor Loose explained: “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. " 

Dr Simon Paine, a Consultant Neuropathologist at NUH, said: “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.”  

It is also cheaper than current methods,” added Professor Loose. “Our method eliminates the need for four to five separate tests, reducing costs as a consequence. Most importantly, it delivers results to the patients when they need them.”  

The team are now looking to get the new testing rolled out at NHS Trusts across the UK.   

 “We are encouraged by the development of this rapid diagnostic technique, which could make a real difference to people affected by brain tumours,” said our Director of Research, Policy and Innovation, Dr Karen Noble. “Receiving a diagnosis in just two hours, rather than waiting up to eight weeks, could ease the emotional strain on patients and remove unnecessary delays to accessing treatment. 

“Crucially, it also paves the way for greater participation in clinical trials – one of our key campaigning priorities outlined in our manifesto. By enabling faster, more accurate diagnoses, more patients can be matched to the right trials at the right time, giving them the best possible chance of improved outcomes." 

There are so many ways that you can help find a cure and ensure scientists can continue to make these vital advances and, ultimately, find a cure.

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    Nicola Gale, Research Communications Manager
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