Polygenic Risk Score for Colorectal Cancer Screening
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Solution Overview
Problem
Current colorectal cancer screening programs are inefficient due to the lack of precise methods to determine individual risk, leading to unnecessary screenings and missed cases, as they rely on broad risk factors like age and family history rather than genetic susceptibility.
Innovation Solution
A method involving genetic risk assessment using specific single nucleotide polymorphisms (SNPs) to determine the risk of developing colorectal cancer, combined with clinical risk assessment to provide a comprehensive risk analysis for personalized screening recommendations.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Quantity of substance
If screening is based on broad risk factors (age, gender, family history), then screening coverage is wide, but screening efficiency is low because many screened individuals will never develop colorectal cancer
Solution Approach 1:
The invention segments the population into high-risk and low-risk groups based on genetic susceptibility profiles. By dividing the broad screening population into distinct risk strata using polygenic risk scores, the system enables targeted screening of high-risk individuals while reducing unnecessary screening of low-risk individuals, thereby improving overall screening efficiency.
Solution Approach 2:
The invention changes the risk assessment parameter from broad demographic factors (age, gender, family history) to specific genetic parameters (polygenic risk scores based on multiple SNPs). This parameter change allows for more precise identification of high-risk individuals, enabling efficient resource allocation to those most likely to benefit from screening.
2Reliability
If many individuals are screened to ensure coverage, then fewer cases are missed, but costs increase due to screening large numbers of low-risk individuals
Solution Approach 1:
The invention performs preliminary genetic risk assessment before conducting expensive screening procedures. By first evaluating polygenic risk scores using cost-effective SNP genotyping, the system identifies high-risk individuals who then proceed to definitive screening, while low-risk individuals are spared unnecessary expensive procedures, thereby reducing overall costs while maintaining case detection rates.
3Measurement precision
If genetic risk assessment uses multiple SNPs to improve precision, then individual risk determination is more accurate, but assessment complexity increases
Solution Approach 1:
The invention employs a universal panel of SNPs that can be assayed simultaneously using a single genotyping platform. The polygenic risk score calculation integrates multiple SNP data points through a unified computational framework, allowing the system to maintain high measurement precision while managing assessment complexity through standardized, multi-functional genetic testing protocols.
Data Source
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AI summary
The present disclosure relates to methods and systems for assessing the risk of a human subject for developing colorectal cancer. These methods may be combined with the subjects clinical risk to improve risk analysis. Such methods may be used to assist decision making about appropriate colorectal cancer screening regimens.