Phenotypic Image Analysis for Genetic Variant Prioritization

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Solution Overview

Problem

Diagnosing genetic diseases is challenging due to subtle facial and physiologic features being difficult for clinicians to recognize, leading to delayed or incorrect diagnoses, especially for rare syndromes, which can result in lengthy and costly diagnostic odysseys.

Innovation Solution

A computerized system for image processing and phenotypic analysis that receives electronic numerical information from soft tissue images, correlates anomalies with genetic data, and prioritizes genetic variants based on pathogenicity, enabling accurate molecular diagnosis and facilitating research.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If clinicians manually examine facial and physiologic features to diagnose genetic diseases, then the diagnostic process relies on human expertise, but subtle features are difficult to recognize leading to delayed or incorrect diagnoses

Engineering Contradiction:

Improvedetection accuracy of subtle phenotypic featuresVSAvoiddiagnostic time

Core Design Contradiction:

Measurement precisionVSLoss of time

Solution Approach 1:

The patent replaces manual clinical examination with an automated computerized image analysis system that uses algorithms to detect and measure phenotypic features. This substitution of mechanical/human inspection with automated image processing enables precise detection of subtle facial and physiologic features while significantly reducing diagnostic time.

Inventive Principle:

Principle #28Mechanics substitution (Replace mechanical system)

Solution Approach 2:

The patent introduces a computerized analysis system as an intermediary between the patient's phenotypic features and the clinician's diagnosis. This intermediary automatically extracts and analyzes phenotypic data from images, providing objective measurements that assist clinicians in making accurate diagnoses without having to manually detect subtle features themselves.

Inventive Principle:

Principle #24Intermediary (Mediator)

2Reliability

If clinicians perform comprehensive work-up for rare syndromes, then diagnostic accuracy may improve, but the process becomes lengthy and expensive taking years or decades

Engineering Contradiction:

Improvediagnostic accuracyVSAvoiddiagnostic duration

Core Design Contradiction:

ReliabilityVSLoss of time

Solution Approach 1:

The patent performs preliminary analysis of phenotypic features using automated image processing before the clinician conducts comprehensive diagnostic work-up. By pre-identifying and prioritizing relevant phenotypic characteristics through computerized analysis, the system prepares targeted information that guides subsequent diagnostic steps, reducing the overall time and cost while maintaining accuracy.

Inventive Principle:

Principle #10Preliminary action

Solution Approach 2:

The patent transforms phenotypic features into standardized numerical parameters through automated image analysis. This parameterization of facial and physiologic features enables efficient comparison against known syndrome profiles, allowing rapid screening that maintains diagnostic reliability while dramatically reducing the time required compared to traditional comprehensive work-up approaches.

Inventive Principle:

Principle #35Parameter changes

3Ease of operation

If clinicians rely on traditional examination methods, then the diagnostic approach is simple and accessible, but subtle feature differences remain unrecognized

Engineering Contradiction:

Improveaccessibility of diagnostic methodVSAvoiddetection of subtle phenotypic features

Core Design Contradiction:

Ease of operationVSMeasurement precision

Solution Approach 1:

The patent introduces a computerized analysis system as an intermediary that enhances traditional clinical examination. This intermediary automatically processes images to detect subtle phenotypic features that would be difficult for clinicians to notice, while the system remains accessible by integrating with existing clinical workflows and requiring only standard image input.

Inventive Principle:

Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent replaces manual detection of subtle features with automated image processing algorithms while maintaining the simplicity and accessibility of the overall diagnostic process. The computerized system handles the complex task of detecting subtle phenotypic differences, allowing clinicians to focus on interpretation and decision-making without requiring specialized training in detecting minute facial variations.

Inventive Principle:

Principle #28Mechanics substitution (Replace mechanical system)

Data Source

PatentUS10667689B2Systems, methods, and computer-readable media for patient image analysis to identify new diseases

Publication Date: 2020.06.02 FDNA INC

AI summary

Systems, methods, and computer-readable media are disclosed for performing image processing in connection with phenotypic analysis. For example, at least one processor may be configured to receive electronic numerical information corresponding to pixels reflective of at least one external soft tissue image of an individual and access geographically dispersed genetic information stored in a database. The geographically dispersed genetic information may include numerical data that correlates anomalies in pixels in soft tissue images of a plurality of geographically dispersed individuals to specific genes or to specific genetic variants. The at least one processor may also be configured to compare the electronic numerical information for the individual with the numerical data of the geographically dispersed genetic information stored in a database, to determine at least a likelihood that the individual has a specific genetic variant, and prioritize, based on the comparison, one or more genetic variants according to likelihood of pathogenicity.