Genome-Phenome Analyzer for Diagnostic Decision Support
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Solution Overview
Problem
Current methods for interpreting whole-genome sequencing data are limited in clinical utility, as they provide raw lists of genes or chromosomal regions with abnormalities and associated diseases, failing to offer accurate and efficient diagnostic decision support for clinicians.
Innovation Solution
A computer-based diagnostic decision support tool that processes genetic sequencing information, including severity scores and zygosity measures, to compute the probability of candidate diseases and their pertinence, using Bayesian methods and pathogenicity models to modify initial disease probabilities based on patient findings.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If raw genomic data is reported as lists of genes or chromosomal regions with abnormalities, then the data can be generated and presented, but the clinical utility and diagnostic accuracy are limited
Solution Approach 1:
The patent introduces a computer-based diagnostic decision support tool as an intermediary between raw genomic data and clinical interpretation. This tool integrates genomic data with phenotypic information, disease databases, and statistical models to generate prioritized lists of candidate diseases and genetic variants, thereby improving diagnostic accuracy without requiring clinicians to directly analyze complex raw genomic data themselves
Solution Approach 2:
The patent replaces manual clinical interpretation of genomic data with an automated computational system. The system uses algorithms, Bayesian statistics, and machine learning to process genomic variants, calculate pathogenicity scores, and rank candidate diseases, substituting the mechanical process of manual analysis with an automated electronic decision support system
2Loss of information
If comprehensive genomic sequencing is performed, then more genetic information is obtained, but the difficulty of interpreting the mass of information increases
Solution Approach 1:
The patent extracts and prioritizes the most clinically relevant genetic information from comprehensive genomic sequencing data. The system filters thousands of genomic variants to identify and rank the few most likely pathogenic variants by integrating them with phenotypic data, disease associations, and pathogenicity scores, thereby maintaining information completeness while reducing interpretation difficulty
Solution Approach 2:
The patent applies different levels of analysis and interpretation quality to different genomic variants based on their relevance. High-priority variants associated with the patient's phenotype and known disease genes receive detailed analysis and higher scrutiny, while lower-priority variants are screened more efficiently, optimizing the interpretation process across the entire genomic dataset
3Productivity
If manual interpretation of genomic data is performed, then clinical judgment can be applied, but the efficiency and productivity are reduced
Solution Approach 1:
The patent enables the diagnostic system to perform self-service by automatically processing genomic data, comparing it against databases of known disease associations, calculating pathogenicity scores, and generating prioritized diagnostic hypotheses. This automation handles the computationally intensive tasks of data integration and analysis, allowing clinicians to focus on final interpretation and patient care
Solution Approach 2:
The system incorporates feedback mechanisms where the automated analysis results are presented to clinicians, who can provide additional clinical information or adjust the analysis parameters. The system then re-runs the analysis with the new information, creating an iterative feedback loop that improves diagnostic accuracy while maintaining efficiency through automation
Data Source
AI summary
The present invention features methods, devices, and systems, e.g., for providing diagnostic or treatment decision support to a clinician for the diagnosis or treatment of a patient in need thereof or for diagnosing or treating a patient in need thereof.