Genotype-Based Analysis System Using Phenotypic Interrogatories
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Solution Overview
Problem
Current methods for determining symptom severity risk and intervention recommendations for illnesses like COVID-19 are impractical due to the need for laboratory tests, which are costly, time-consuming, and not feasible during global pandemics, and lack understanding of the relation between symptoms and genetic or physiological qualities.
Innovation Solution
A genotype-based analysis system that uses an interactive interface to prompt users for phenotype interrogatories, processes these responses through a machine-learning model to determine genotype classifications, and provides severity risk assessments and intervention recommendations without the need for laboratory tests.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If laboratory tests are used to determine genotype, then measurement precision is improved, but loss of time and cost increase
Solution Approach 1:
The patent creates a computational model that copies the functionality of laboratory genotype testing through machine learning. The system trains a model on existing genotype data and phenotype information, then uses this copied knowledge to predict genotypes from phenotypic data without requiring actual laboratory testing. This resolves the contradiction by providing a time-efficient alternative that maintains predictive accuracy through model-based inference rather than direct measurement.
Solution Approach 2:
The patent performs preliminary action by pre-training the machine learning model on comprehensive genotype and phenotype data before deployment. The model learns the relationships between phenotypic characteristics and genotypes in advance, so that during actual use, genotype prediction can be performed rapidly without time-consuming laboratory tests. This preliminary training phase stores the knowledge needed for fast subsequent predictions.
2Measurement precision
If laboratory tests are used to determine genotype, then measurement precision is improved, but cost increases
Solution Approach 1:
The patent replaces expensive laboratory testing infrastructure with a computationally-based solution that uses inexpensive phenotypic data collection. Instead of requiring costly lab equipment, reagents, and personnel for genotype determination, the system uses affordable digital phenotyping assessments and processes them through the pre-trained machine learning model. This provides a low-cost alternative that maintains predictive capability.
Solution Approach 2:
The computational model copies the genotype determination function from expensive laboratory tests to an inexpensive digital platform. By training the model on existing lab test data and then using it to predict genotypes from phenotypic observations, the system replicates the value of laboratory testing without the associated costs of physical testing infrastructure.
3Reliability
If comprehensive genotype analysis is performed, then reliability of symptom severity assessment is improved, but device complexity increases
Solution Approach 1:
The patent extracts the complex genotype analysis functionality from the user-facing system and embeds it within the pre-trained machine learning model. The model encapsulates the complex relationships between phenotypic data and genotypes, allowing the user interface to remain simple while maintaining access to sophisticated analytical capabilities. This separates the complexity of the analysis engine from the simplicity of the interaction interface.
Solution Approach 2:
The machine learning model serves as an intermediary between simple phenotypic data collection and complex genotype interpretation. The model translates easily-collected phenotypic observations into meaningful genotype predictions and symptom severity assessments, bridging the gap between simple input data and complex analytical output without requiring the user system to handle the complexity directly.
4Measurement precision
If traditional testing methods are used, then measurement precision is improved, but ease of operation deteriorates
Solution Approach 1:
The patent replaces the mechanical and physical laboratory testing system with a digital computational system. Instead of requiring physical sample collection, transportation, and laboratory processing, the system uses digital phenotypic assessments processed by machine learning algorithms. This substitution maintains measurement precision through model-based prediction while dramatically improving ease of operation through remote, automated assessment.
Solution Approach 2:
The system enables self-service by allowing individuals to complete phenotypic assessments independently without requiring laboratory visits or professional testing personnel. The machine learning model automatically processes the collected phenotypic data and generates genotype predictions and symptom severity assessments, eliminating the need for manual laboratory operations and making the process accessible to anyone with internet connectivity.
Data Source
AI summary
Systems and method for performing a genotype-based analysis of an individual are discussed. An exemplary method may include: causing an interactive interface of an assessment application operating on a user device to prompt for responses to one or more phenotype interrogatories from an individual; receiving, from the user device, responses to the one or more phenotype interrogatories from the individual, entered via the interactive interface; using a relational model, determining at least one genotype classification for the individual based on the received responses to the one or more phenotype interrogatories; and causing the interactive interface to output information associated with the at least one genotype classification.


