用于肾癌筛查和分层的多基因血液检测的临床验证

Background: Kidney cancer remains one of the most aggressive and fatal urological malignancies. To address this issue, we developed and clinically validated the Geneverify blood-based, cell-free mRNA test, a cutting-edge liquid biopsy platform that enables real-time, non-invasive genomic profiling. By quantifying circulating tumor-derived transcripts in plasma, this next-generation assay delivers rapid and precise molecular insights, paving the way for precision screening, early diagnosis, and treatment monitoring. Methods: In this prospective clinical study, we evaluated real-time expression levels of 30 kidney cancer associated genes in plasma samples from 51 subjects (41 suspected cancer cases and 10 healthy controls). The primary objective was to assess the diagnostic and prognostic performance of a blood-based multi-gene expression panel developed by Geneverify Inc. Log₂ fold-change values were calculated for each gene and integrated to generate a composite Geneverify risk score for each subject. Geneverify scores were compared with biopsy-confirmed diagnoses to determine assay sensitivity and specificity. Additional statistical analyses assessed correlations between Geneverify scores and pathological grade as well as clinical stage. Results: All cancer samples demonstrated Geneverify scores greater than 10. Using an optimized threshold of 10, the assay achieved 100% sensitivity in detecting cancer cases. Specificity could not be determined because the study cohort did not include benign or non-cancer subjects; therefore, AUC relative to non-cancer controls was also not estimable. Baseline Geneverify scores from healthy volunteers served as the reference for comparison. Most patients in the cohort had T1a (early-stage) kidney cancer. Elevated Geneverify scores showed clear correlations with tumor stage, grade, and treatment status. In the majority of late-stage metastatic cases receiving systemic therapy, Geneverify scores decreased significantly, suggesting a favorable treatment response. Conclusions: This study provides the first real-time clinical validation of a blood-based, cell-free mRNA genomic assay for kidney cancer detection. The Geneverify test demonstrated high diagnostic accuracy, strong concordance with biopsy results, and robust prognostic value, establishing it as a powerful non-invasive alternative for early detection. Its adoption in clinical workflows may reduce surgical biopsies, improve patient stratification, and accelerate personalized oncology care.