Genetic Scoring Method for Multifactorial Disease Risk Prediction

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Solution Overview

Problem

Current methods are inadequate for accurately determining an individual's risk of developing or exhibiting multifactorial medical conditions, such as complex diseases, due to the complexity of genetic and environmental interactions, and they often fail to predict therapeutic responses effectively.

Innovation Solution

A method involving the determination of a score based on genotypic information from multiple biallelic polymorphic loci, compared to threshold values, which includes identifying associated alleles through association studies and using this information to assess risk and guide treatment decisions.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If genetic analysis methods are used to determine individual risk of multifactorial conditions, then prediction accuracy improves, but the complexity of analyzing multiple genetic factors and their interactions increases

Engineering Contradiction:
Improveprediction accuracyVSAvoidanalysis complexity
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent segments the complex genetic analysis into discrete scoring components, where each genetic factor or combination of factors contributes a specific score. This segmentation allows the complex interaction of multiple genetic factors to be broken down into manageable, quantifiable units that can be systematically evaluated and summed to produce an overall risk score.

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent transforms the complex qualitative assessment of genetic risk into a quantitative parameter system. By assigning numerical scores to different genetic factors and their interactions, the method converts complex genetic data into a simplified numerical risk score that can be objectively compared against thresholds, thereby maintaining prediction accuracy while reducing analytical complexity.

Inventive Principle:
Principle #35Parameter changes

2Loss of information

If multiple genetic loci are analyzed to assess multifactorial traits, then the completeness of genetic assessment improves, but the difficulty of determining individual contributions and interactions increases

Engineering Contradiction:
Improvegenetic information completenessVSAvoiddifficulty of determining contributions
Core Design Contradiction:
Loss of informationVSDifficulty of detecting and measuring

Solution Approach 1:

The patent merges the analysis of multiple genetic loci into a unified scoring system. Instead of attempting to separately determine and interpret the individual contribution of each genetic factor, the method combines them into a cumulative risk score where each locus contributes additively or interactively to the overall assessment, simplifying the measurement process while preserving genetic information completeness.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The patent introduces a scoring mechanism as an intermediary between raw genetic data and clinical interpretation. This scoring system acts as a mediator that processes complex genetic information from multiple loci, automatically accounting for their relative contributions and interactions, thereby reducing the difficulty of interpreting individual factor contributions while maintaining comprehensive genetic assessment.

Inventive Principle:
Principle #24Intermediary (Mediator)

3Object-affected harmful factors

If pharmacogenetic markers are used to predict drug response, then safety improvements are achieved, but the percentage of toxicities explained remains limited

Engineering Contradiction:
Improvedrug toxicityVSAvoidprediction reliability
Core Design Contradiction:
Object-affected harmful factorsVSReliability

Solution Approach 1:

The patent creates a universal scoring framework that can evaluate multiple genetic factors across different drug responses and multifactorial conditions. This multi-functional approach allows the same scoring system to assess various pharmacogenetic markers and their combined effects, improving prediction reliability for drug response while maintaining safety benefits by comprehensively evaluating genetic risk factors.

Inventive Principle:
Principle #6Universality (Multi-functionality)

Data Source

PatentEP2198381B1Methods for genetic analysis
Publication Date: 2014.08.06 GENETIC TECHNOLOGIES LIMTIED
  • EP2198381B1 patent drawingFigure 1
  • EP2198381B1 patent drawing
  • EP2198381B1 patent drawing

AI summary

Methods of treating an individual exhibiting a medical condition are disclosed. The methods involve determining a score of an individual based on the individual's genotypic information, comparing the score to at least one threshold value, wherein the result of the comparison is indicative of a beneficial response to a treatment, and providing a suitable treatment to the individual.