New Genetic Test Could Diagnose Brain Tumours in 2 Hours

Researchers at the University of Nottingham have developed a new genetic test that can diagnose brain tumours in as little as 2 hours

The test, called ROBIN, uses PromethION nanopore sequencing to deliver rapid methylome classification. The researchers said results could be available intraoperatively, allowing clinicians to make faster, more informed decisions.

The same assay can also be used for next-day molecular profiling, including detection of single nucleotide, copy number, and structural variants.

DNA methylation-based classification is now essential for diagnosing and managing many brain tumour subtypes. Current diagnostic methods rely on additional microarray-based assays to detect pathognomonic somatic mutations and structural variants. These steps often delay final diagnosis. 

Delays Cause Distress and Postpone Treatment

Due to the high capital costs, current analytic tests are restricted to specialist tertiary care centres with high throughput, requiring samples to be sent across regions. Tests are sent to centralised facilities, meaning that clinicians have to wait six to eight weeks or longer before they receive full results.

This delay can cause significant anxiety for patients and postpone the start of treatment.

New Test Offers 2-Hour Turnaround

In a study published in Neuro-Oncology, the Nottingham team of scientists and medics tested ROBIN’s classifier performance on 50 prospective intraoperative cases.

The test achieved a diagnostic turnaround time under 2 hours. Tumour classification began within minutes of sequencing. 

It was able to detect single nucleotide variants, copy number variants, and structural variants in real time. In many cases, methylation classification and identification were achieved within a few hours of sequencing.

In 90% of classifiable cases, the test provided a complete integrated diagnosis within 24 hours. Its classifications matched the final diagnosis in 90% of cases.

ROBIN was able to provide a full integrated diagnosis,  with a mean turnaround time of 24 hours for the ultra-fast pipeline. Classifier performance demonstrated concordance with the final integrated diagnosis in 90% of prospective cases.

Researchers say nanopore sequencing can improve diagnostic turnaround and offer reliable, clinically actionable intraoperative classification.

The test also requires minimal tissue, enabling diagnosis from small samples, such as those obtained via stereotactic biopsy.

“Revolutionary” Speed and Accuracy

Study co-author Dr Simon Paine, consultant neuropathologist at Nottingham University Hospital, noted both the speed and accuracy of the test. “It really is revolutionary,” he said in a press release.

According to Cancer Research UK, about 12,700 people are diagnosed with brain tumours annually in the UK. More than 5000 die each year

Incidence has increased by 24% since the early 2000s. Ten-year survival remains low, at just 11%. 

The Nottingham team believes that ROBIN could significantly improve care for thousands of UK patients each year. The researchers hope to see the test adopted across NHS trusts. 

However, they stressed that clinical trials are needed to confirm its utility in routine practice.

The BRAIN MATRIX trial, funded by The Brain Tumour Charity, will assess how ROBIN can help match patients to personalised clinical trials.

Dr Simon Newman, chief scientific officer at the charity, said in a press release that rapid diagnosis could reduce uncertainty for patients and speed up access to care.

“The potential to combine so many separate tests into one and deliver at a local level is a game changer,” he said.

The study was supported by the Jean-Shanks Foundation, the Pathological Society of Great Britain and Ireland, the British Neuropathological Society, and the Wellcome Trust.