News • Focus on methylation changes
Detecting tumour DNA in urine to identify bladder cancer
Birmingham researchers explored whether long-read whole-genome sequencing could be used to analyse DNA chemistry in urine samples.
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Researchers from the University of Birmingham’s Bladder Cancer Research Centre have used a new method to detect chemical changes in the DNA in an individual’s urine sample - epigenetic changes, called methylation. Published in Clinical Epigenetics, these changes could be used to indicate the presence of bladder cancer.
Whilst current state-of-the-art diagnostic urine tests, such as the team’s "Galeas" bladder test, are already very accurate and starting to be used in the NHS, they rely on the analysis (sequencing) of small segments of DNA. The team’s new approach looks at methylation changes across the whole length of the DNA in a urine sample, the first study to map these patterns using a new DNA sequencing technology.
Even though patients’ urine samples contain DNA from both healthy and cancerous cells, the team was able to discriminate cancer from non-cancer patients even if the tumour DNA level was low. This approach may form the basis of a next generation of diagnostic urine tests which could reveal additional features of tumour DNA including those detected by the bladder test. “Our proof-of-concept study offers a glimpse of what could be achievable in a clinical setting: a comprehensive, non-invasive test that could surpass today’s clinical methods,” said Dr Anshita Goel, Bioinformatic Research Fellow at the University of Birmingham and the study's first author.
Professor Rik Bryan, Professor of Urothelial Cancer Research and Director of the Bladder Cancer Research Centre at the University of Birmingham, said: “These are very interesting and exciting data and, as with all cancer research, our findings prompt a lot of new questions as well as answers. However, this long-read sequencing approach may allow us to better understand the very earliest changes in the bladder that ultimately lead to the development of a bladder tumour. In turn, that may then allow us to deliver a new type of urine test, but there is still a long way to go.”
Dr Goel said: “With nothing more than a urine sample and cost-effective sequencing technology, we can uncover the hidden epigenetic signatures of bladder cancer - opening the door to faster, gentler, and more patient-friendly disease detection in the future.”
The data generated by the new approach is extensive, and the team are now starting to develop Artificial Intelligence methods that can classify patients based on their DNA methylation patterns, with the ultimate aim to direct them to the optimal treatment pathway.
Source: University of Birmingham
30.09.2025
