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

This approach has achieved a 100 per cent success rate, providing diagnostic results in under two hours from surgery and detailed tumour classifications within minutes of sequencing.

Moreover, the platform’s ability to continue sequencing enables a fully integrated diagnosis within 24 hours.

Dr Stuart Smith is a Neurosurgeon from the School of Medicine at the University and within NUH.

He said: “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.”

The current treatment pathway starts with an MRI scan to ascertain the presence of a tumour, patients will speak to clinicians to discuss the possibilities of what type of tumour they may have.

For many tumour types people would then undergo some form of surgery to obtain a sample of the tumour, which currently is sent away to centralised labs for testing to look for abnormalities in the DNA – which will determine what type of tumour it is.

Traditionally experts would then look at the specimens and the neuropathology view would be to try and identify the cells visually.

But in the last few years the process has changed and tumours are categorised on the DNA and genetic abnormalities – which traditionally is a slow process due to technological limitations.

Professor Matt Loose, a biologist from the School of Life Sciences at the University of Nottingham developed a method to sequence specific parts of human DNA at higher depth using Oxford Nanopore Technologies portable sequencing devices.

This method 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.

The team have now used this method to genetically test brain tumour samples.

ROBIN, a software tool based on the P2 PromethION nanopore sequencers, sequences the DNA by detecting the change in current flow as single molecules of DNA pass through a nanopore – or tiny hole – in a membrane.

Professor Loose said: “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.”

Dr Simon Newman, Chief Scientific Officer at The Brain Tumour 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.

“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.

“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.”