Urine cfDNA Sequencing for Non-Invasive Urothelial Carcinoma Detection
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Solution Overview
Problem
Current detection methods for urothelial carcinoma, such as imaging techniques and invasive procedures like cystoscopy, have low detection rates and pose risks, necessitating a non-invasive method with higher accuracy for early-stage detection.
Innovation Solution
A method utilizing cfDNA sequencing to identify SNV/INDEL and CNV features, integrating these with a screening model for urothelial carcinoma detection, providing high sensitivity and specificity.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If imaging techniques (CT, MRI) are used for detection, then the detection coverage is comprehensive, but the detection rate of ureteral tumors is relatively low
Solution Approach 1:
The patent uses cfDNA as an intermediary substance to detect urothelial carcinoma. Instead of directly imaging the tumor, the method detects tumor-derived circulating free DNA in urine samples, which serves as a mediator between the tumor and the detection system, thereby improving detection sensitivity for ureteral tumors
Solution Approach 2:
The patent replaces mechanical imaging systems (CT, MRI) with a molecular biology-based detection system. By substituting physical imaging with genetic marker detection through sequencing and analysis, the method achieves higher detection precision without the limitations of imaging techniques
2Measurement precision
If urine exfoliated cytology testing is performed, then the testing is non-invasive, but the positive rate is less than 50%
Solution Approach 1:
The patent changes the detection parameter from cellular morphology (cytology) to genetic sequence information (cfDNA). By detecting specific mutations and copy number variations in tumor-derived DNA, the method achieves a positive rate exceeding 90% while maintaining the non-invasive nature of urine-based testing
Solution Approach 2:
The patent transitions from two-dimensional cellular visual inspection to high-dimensional genetic sequence analysis. By examining multiple genetic markers including SNVs, indels, and CNVs across the genome, the method detects tumors that are invisible to conventional cytology while keeping the sample collection simple
3Measurement precision
If Ureteroscopy/Flexible endoscopy is used for detection, then the detection accuracy can be improved, but the procedure is invasive and may increase the risk of bladder metastasis
Solution Approach 1:
The patent uses urine-based cfDNA as an intermediary to achieve accurate tumor detection without direct contact with the urinary tract. This indirect detection method through circulating tumor DNA eliminates the need for invasive instrumentation, thereby maintaining high detection accuracy while avoiding the risk of tumor cell dissemination during the procedure
Solution Approach 2:
The patent replaces the mechanical endoscopic system with a molecular detection system. By substituting physical visualization and biopsy with genetic analysis of cfDNA, the method achieves comparable or superior detection accuracy without the harmful mechanical effects of invasive procedures
4Measurement precision
If urine FISH testing is performed, then the testing is non-invasive, but the results are subject to specimen conditions and tumor obstruction levels
Solution Approach 1:
The patent changes the detection target from chromosomal fluorescence signals (FISH) to sequence-based genetic markers (SNVs, indels, CNVs). This parameter change makes the detection more robust to specimen variations, as sequence analysis can be performed on degraded or low-quality DNA that would fail FISH assays, thereby improving reliability across different specimen conditions
Data Source
AI summary
The present disclosure provides a method, a system, a device or an equipment for detecting urothelial carcinoma based on CNV features and/or SNV features.