Colorectal Cancer Screening via Stool DNA Methylation Analysis
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Solution Overview
Problem
Current diagnostic methods for colorectal cancer are invasive, expensive, and have low uptake due to their complexity, making it difficult to effectively screen for adenomas or adenocarcinomas, as they rely on observer-defined risk factors prone to error and lack sensitivity for early detection.
Innovation Solution
A method involving the assessment of DNA methylation status in specific genomic regions, such as those defined by Hg19 coordinates and their upstream sequences, to identify changes indicative of large intestine neoplasms, using a panel of differentially methylated genes for screening and monitoring.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current diagnostic methods (colonoscopy, invasive procedures) are used, then diagnostic accuracy is improved, but patient comfort and ease of operation deteriorate due to invasiveness
Solution Approach 1:
The patent replaces mechanical/invasive diagnostic procedures (colonoscopy, biopsy) with a molecular biology-based detection system that analyzes DNA methylation patterns in stool samples. This substitution eliminates the need for invasive mechanical intervention while maintaining diagnostic accuracy through epigenetic marker detection.
Solution Approach 2:
The patent uses stool samples as an intermediary medium to indirectly detect colorectal neoplasia. Instead of directly examining the colon through invasive procedures, the system analyzes DNA methylation markers present in stool, serving as a non-invasive proxy that correlates with colorectal tissue status.
2Measurement precision
If current diagnostic methods are used, then diagnostic capability is improved, but device complexity and cost increase
Solution Approach 1:
The patent segments the diagnostic process into distinct molecular steps: DNA extraction from stool samples, bisulfite conversion to differentiate methylated cytosines, PCR amplification of specific gene regions, and detection of methylation patterns. This segmentation creates a modular, standardized workflow that reduces overall complexity compared to invasive procedures.
Solution Approach 2:
The patent detects disease state by measuring changes in DNA methylation parameters (methylation levels at specific CpG sites in genes like NDRG4, SDC2, and CAHXI). This parameter-based detection approach transforms a complex diagnostic problem into a quantifiable molecular measurement that can be processed through standardized laboratory procedures.
3Measurement precision
If current diagnostic methods are used, then detection capability is improved, but loss of time and productivity deteriorate due to low uptake and procedural time
Solution Approach 1:
The patent performs preliminary detection of colorectal neoplasia through stool-based methylation analysis before invasive procedures are needed. By screening for epigenetic markers in stool samples, the system identifies at-risk individuals who then require further investigation, reducing unnecessary invasive procedures and optimizing resource allocation.
Solution Approach 2:
The patent enables self-service sampling where patients can collect stool samples at home without requiring clinical intervention. This eliminates the need for scheduled colonoscopy appointments and procedural time, allowing patients to perform the initial screening step independently while maintaining high detection capability through methylation marker analysis.
Applied Scientific Principles
This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.
Function Achieved in This Case
This approach allows for a simple and accurate screening method that can detect predisposition or onset of large intestine neoplasms by identifying higher methylation levels in biological samples, enhancing diagnostic precision and reducing the need for invasive procedures.
Implementation Method 1
changes to DNA methylation levels are indicative of the onset or predisposition to the onset of a neoplasm
Data Source
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Figure 1(e)~1(f)
AI summary
A method of screening for the onset of a large intestine neoplasm or monitoring the progress of a neoplasm in an individual, said method comprising assessing the methylation status of a DNA region defined by Hgl9 coordinates chr6:391752..411443 and 2kb upstream of the transcription start site of IRF4, in a biological sample from said individual wherein a higher level of methylation of said DNA region relative to control levels is indicative of a large intestine neoplasm or a predisposition to the onset of a large intestine neoplasm.