A NEW STUDY has revealed that a new spit test for polygenic risk scores (PRS) is better than the traditional PSA blood test for improving prostate cancer screening for UK patients.
With the incidence of prostate cancer steadily rising, current screening methods, such as prostate-specific antigen (PSA) testing, often result in a high number of false-positive results, making it difficult to identify those at genuine risk. Genomewide association studies have identified common genetic variants linked to prostate cancer, and these variants can now be used to create a polygenic risk score that more accurately identifies individuals at higher risk.
The study recruited 40,292 participants aged 55–69 from primary care centres in the UK. Using DNA extracted from saliva, researchers calculated the polygenic risk scores based on 130 variants known to increase the likelihood of developing prostate cancer. Those with scores in the 90th percentile or higher were invited to undergo screening, which involved multiparametric magnetic resonance imaging (MRI) and transperineal biopsy, regardless of their PSA levels.
Out of the 745 participants invited for screening, 468 (62.8%) underwent both MRI and biopsy. Prostate cancer was detected in 187 of these participants, representing 40% of the screened group. Notably, 103 of the participants (55.1%) had cancer classified as intermediate or higher risk, meaning they would require treatment.
The study found that 74 of these participants would not have been identified through the UK’s current diagnostic pathway, which relies on elevated PSA levels and positive MRI results.
In addition, 40 of the participants with cancer (21.4%) were classified as having an unfavorable intermediate risk or high-risk disease. These findings suggest that using a polygenic risk score for selecting participants for prostate cancer screening could increase the detection of clinically significant cases, surpassing the traditional PSA or MRI-based approaches. This approach could lead to more precise and earlier identification of individuals in need of treatment, potentially improving outcomes for patients.
Reference
McHugh JK, et al. Assessment of a polygenic risk score in screening for prostate cancer. N Engl J Med. 2025;392:1406-17.
