Abstract:
Current cancer screening methods—radiological imaging, DNA-based tests, and pathological assessments—often fail to detect malignancies at early stages. Despite technological advances, gene-based diagnostics specifically designed for early cancer detection remain limited. To bridge this gap, we evaluated the clinical utility and diagnostic accuracy of GeneVerify test, a plasma cell-free mRNA-based test for prostate cancer. This novel, non-invasive approach has the potential to deliver faster, more precise diagnoses while eliminating the risks associated with surgical biopsies. In our study, we analyzed 455 prostate cancer samples (160 blood and 294 tissue) and 150 normal samples, collected from nine hospitals. Blood and surgical specimens were obtained based on defined eligibility criteria. The study aimed to correlate mRNA genomic profiling with clinico-pathologic parameters. In blood samples, a 25-gene panel effectively distinguished prostate cancer patients from non-cancer individuals, achieving an AUC of 0.906 (sensitivity 90%, specificity 91%). Similar diagnostic performance was observed in tissue samples (AUC 0.9514, sensitivity 95%, specificity 94%). Notably, patients with Gleason scores >7 showed significantly higher expression of the gene panel compared to those with GS <7, underscoring the test’s prognostic potential. Comparable gene expression patterns between blood and tissue samples support the use of blood-based testing for screening, diagnosis, and risk assessment. These findings were further validated in a prospective study. GeneVerify test demonstrated high accuracy in detecting early- stage prostate cancer with strong concordance to biopsy results. To our knowledge, this is the first real-time clinical validation of a blood-based, cell-free mRNA genomic test for prostate cancer screening. Our results indicate that mRNA genomic profiling from blood can accurately diagnose prostate cancer and help stratify patients into prognostic groups. This non-invasive method offers a promising alternative to traditional biopsy— delivering faster, safer, and more accessible early detection, and paving the way for personalized treatment strategies.
