NHS pilots genomic test to speed up brain tumour diagnosis

NHS England plans to roll out a new rapid genomic test developed by the University of Nottingham to diagnose brain tumours.

Brain tumours currently affect about 12,000 people in the UK every year. Over a hundred different types exist, some slow-growing and others aggressive, with each carrying its own genomic signature. Typically, a small tumour sample is taken during surgery and sent for analysis to determine the nature of the cancer and therefore treatment approaches. However, patients usually wait weeks for these results. A team of researchers from the University of Nottingham has designed a new approach that reduces this waiting time to a few hours or days.  

'This new method allows us to focus on the specific regions of DNA needed to answer important clinical questions, such as what type of tumour a patient has and how it could be treated. By rapidly analysing the most relevant genetic information, we can generate comprehensive tumour classifications in a fraction of the time currently required,' said Professor Matt Loose from the faculty of medicine and health sciences at the University of Nottingham, the senior author of the study published in Neuro-Oncology.

To enhance diagnostic performance, the researchers developed a software tool that they named ROBIN. They first obtained a small sample of tumours collected directly from surgeries, and used a sequencing technology known as Oxford Nanopore to analyse specific DNA regions. Nanopore sequencing determines the order of the bases in a DNA strand as it passes through a small hole in a membrane, allowing mutational and methylation analyses. ROBIN then provided real-time analysis of these data as they were being generated and allowed the classification of the tumours by integrating different mutational markers.

The results showed that this new approach correctly classified 90 percent of samples. An independent replication study conducted within the NHS, which was also published in Neuro-Oncology, also supported these findings, showing that ROBIN could return a diagnosis within 1.4 day of surgery.

'When I was undergoing tests for a suspected brain tumour, the wait was agonising. I waited six weeks to get a precise diagnosis for my tumour,' said 45-year-old Shalina. Noting that her tumour turned out to be slow-growing, she added: 'For those people whose tumours are more advanced or harder to treat, any reduction in time to diagnose means that steps can be taken sooner to give them the very best chance of recovery. You cannot underestimate how important this is to families affected.'

The new approach will be piloted at five centres in Nottingham, Newcastle, Birmingham and London, before potentially being extended at other sites across England.