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September 10, 2025annals of urologic oncology0 citationsOpen Access

Saliva-Based Polygenic Risk Scores and AI-Enhanced Imaging for Prostate Cancer Screening Beyond PSA

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FLFan LiXZXiang Zhang

Key Points

  • Saliva-based polygenic risk scores improve prostate cancer risk assessment, reducing unnecessary biopsies.
  • In the BARCODE1 trial, combining PRS and targeted MRI detected aggressive cancers with 55.1% accuracy.
  • AI-assisted multiparametric MRI achieves diagnostic accuracies up to 92%, significantly aiding radiologists.
  • Despite advances, PRS accuracy is influenced by ancestry, and AI may have reduced efficacy in diverse populations.

Abstract

Background Prostate-specific antigen (PSA) testing, long used for prostate cancer screening, is limited by poor specificity (~25%), leading to unnecessary biopsies in over 70% of cases and substantial healthcare costs. Methods This review synthesizes recent evidence (2023–2025) on emerging non-invasive diagnostics—saliva-based polygenic risk scores (PRS) and artificial intelligence (AI) -enhanced imaging—as potential alternatives to PSA. Results Saliva-derived PRS, incorporating over 130 genetic variants, have demonstrated superior risk stratification. In the BARCODE1 trial, 40% of men with high PRS proceeded to targeted MRI and biopsy, detecting aggressive cancer in 55. 1% of cases—outperforming PSA-based detection. Concurrently, AI-assisted multiparametric MRI (mpMRI) has shown diagnostic accuracies up to 92% for clinically significant tumors (Gleason ≥7), while reducing radiologist workload by approximately 50%. Combining PRS and AI, as explored in multi-modal strategies (e. g. , PATHFINDER trial), has yielded sensitivity rates up to 95% and demonstrated cost-effectiveness, with projected savings of ~50, 000 per quality-adjusted life year. Conclusion However, disparities persist: PRS performance varies by ancestry, and AI models trained on homogeneous datasets show reduced accuracy in underrepresented populations, as highlighted in the TRANSFORM trial.

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Cite This Study

Li et al. (2025) studied this question.

synapsesocial.com/papers/68c1a26954b1d3bfb60ddaf8https://doi.org/10.32948/auo.2025.05.28
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