Genetic risk score enhances Prostate cancer detection in landmark study

9 May 2025

A major study has shown that a saliva-based genetic test can help identify men at high risk of prostate cancer, raising the possibility that targeted screening in this group could potentially lead to earlier detection of serious cases. The findings, from the BARCODE1 trial and published in The New England Journal of Medicine, suggest a new approach to screening based on genetic risk.

The study involved over 6,000 men aged 55 to 69. Researchers used a polygenic risk score (PRS), based on 130 genetic variants linked to prostate cancer, to identify those at highest risk. Men in the top 10% of scores were invited for MRI scans and biopsies, even if their prostate-specific antigen (PSA) blood test results were normal.

Of the 468 men who went on to have further screening, 187 were diagnosed with prostate cancer. Over half of these had clinically significant cancer, meaning cancers that are more likely to grow, spread, and require treatment. Importantly, nearly three-quarters of these serious cases would not have been detected using current NHS diagnostic methods, which rely on elevated PSA levels and positive MRI scans.

Professor Nora Pashayan, co-director of Cambridge Public Health and a co-investigator in the trial, was an author of the study. Her work focuses on targeted, risk-based approaches to screening and early detection.

Professor Michael Inouye, Professor of Systems Genomics & Population Health at the University of Cambridge, said:

“This study is the strongest evidence to date on the clinical utility of a polygenic score for prostate cancer screening. A large proportion of prostate cancer cases detected using a polygenic score would not have been detected using the current diagnostic pathway.”

The findings will inform future trials, including the large-scale TRANSFORM study, which will evaluate how this approach could be rolled out more broadly.

While not yet ready for routine clinical use, BARCODE1 marks a major step toward more personalised screening and it offers a glimpse of how genomics could shift public health from reactive care to proactive prevention.

Media coverage:

Related Links