Age-Specific Methylated DNA Markers for Colorectal Neoplasia Screening
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Solution Overview
Problem
Current colorectal cancer screening methods are inadequate for early detection in individuals younger than 50 and those with Lynch Syndrome, as existing markers optimized for older adults may not perform similarly in younger age groups, and there is a need for cost-effective screening strategies that can accurately discriminate colorectal neoplasia across all ages.
Innovation Solution
Identification of specific methylated DNA markers (MDMs) and marker panels, such as USP44, STK32, CBLN2, ADCY4, CNTFR, PITX1, ANTXR1, ALKBH5, ADM, OPLAH, DAB2IP, ELMO1, ARHGEF4, chr12.133, LRRC4, VAV3, SFMBT2, PDGFD, and CHST2, which can detect colorectal neoplasia in individuals of all ages and those with Lynch Syndrome, utilizing methylation state analysis through techniques like bisulfite treatment and methylation-sensitive PCR.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If existing markers optimized for older adults are used for screening, then screening effectiveness for individuals older than 50 is improved, but screening accuracy for younger individuals (at or under 50) deteriorates
Solution Approach 1:
The patent applies local quality by developing age-specific marker panels tailored to different age groups. Separate marker panels are identified and validated for individuals at or under 50 years of age versus those older than 50, recognizing that methylation patterns differ by age group. This ensures each age group receives optimized screening markers rather than a one-size-fits-all approach.
Solution Approach 2:
The patent implements parameter changes by adjusting the specific markers and panel compositions based on the age parameter of the screened individual. The system changes which markers are included in the panel depending on whether the subject is in the younger (≤50) or older (>50) age group, optimizing screening performance for each demographic.
2Reliability
If comprehensive screening is provided for all age groups, then early detection capability is improved, but cost-effectiveness deteriorates
Solution Approach 1:
The patent applies segmentation by dividing the screening population into distinct age groups (at or under 50 versus older than 50) with separate optimized marker panels for each segment. This segmentation allows resources to be allocated efficiently while maintaining high detection capability across all groups.
Solution Approach 2:
The patent implements universality by creating a multi-functional screening system that can serve multiple age groups with different optimized panels. The same platform technology is used universally, but the marker panel composition is adapted for each age group, achieving both broad applicability and age-specific optimization.
3Measurement precision
If age-specific marker panels are developed, then screening accuracy across all ages is improved, but device complexity increases
Solution Approach 1:
The patent applies dynamics by making the marker panel selection adaptive based on the subject's age. The system dynamically adjusts which markers are included in the panel according to the age parameter, allowing flexibility and optimization without requiring entirely separate testing systems for each age group.
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
These markers provide high discrimination and specificity for detecting colorectal neoplasia, enabling effective early detection and surveillance across all age groups, including those with Lynch Syndrome, by assessing methylation states in biological samples, thereby improving cancer screening outcomes.
Implementation Method 1
treating the obtained DNA with a reagent which selectively modifies unmethylated cytosine residues in the obtained DNA to produce modified residues but which does not modify methylated cytosine residues
Implementation Method 2
methylation-sensitive PCR
Data Source
AI summary
Provided herein is technology for colorectal neoplasia screening and particularly, but not exclusively, to methods, compositions, and related uses for detecting the presence of colorectal neoplasia in 1) individuals at, older or younger than 50 years of age, or 2) individuals having Lynch Syndrome.