A new study published in Gut demonstrates that low-coverage whole genome sequencing (lcWGS) of precancerous growths in patients with ulcerative colitis (UC) can accurately predict the risk of developing bowel cancer.
The findings underscore the role of genomic profiling in UC surveillance, offering a low-cost, clinically viable biomarker for identifying patients at high risk of progression. By integrating lcWGS analysis into routine diagnostics, clinicians could more effectively determine which patients with inflammatory bowel disease might benefit from intensified monitoring or early intervention. This could also reduce unnecessary colectomies in low-risk individuals.
The researchers – at London’s Institute of Cancer Research – analyzed 270 low-grade dysplasia samples from 122 UC patients, categorizing them either as progressors, who developed advanced neoplasia (AN) within five years, or non-progressors (n=82), who remained AN-free during follow-up. Using lcWGS, researchers assessed somatic copy number alterations (CNAs) in low-grade dysplasia lesions and compared their predictive power to traditional clinical risk factors.
CNA burden was significantly higher in progressors than non-progressors. Analysis showed that CNA burden alone was a strong predictor of AN risk, outperforming established clinical risk factors such as lesion size, shape, and incomplete resection. Further tests suggested that combining genomic and clinical data further improves accuracy.
In a statement, Cancer Research UK commented, “With this research, we can focus resources on treating people with IBD who are at really high risk, saving health services valuable time and money. We can also give those at lower risk peace of mind and remove the fear of bowel cancer in the future.”
Future research aims to validate these findings in larger cohorts and explore the feasibility of incorporating lcWGS into routine UC surveillance programs. If widely adopted, this approach could transform cancer prevention strategies for UC patients by enabling more precise and individualized management of dysplasia.
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