Gene Expression Algorithms for Lung Cancer Diagnostics

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Solution Overview

Problem

Current methods for diagnosing early-stage lung cancer face challenges in accessing cells for accurate disease assessment, particularly due to the small size and peripheral location of lesions, which are difficult to reach via standard techniques like bronchoscopy.

Innovation Solution

A method is provided that determines the risk of cancer by analyzing gene expression products in a biological sample, deriving the composition of cells based on specific markers, normalizing gene product levels, and classifying the risk of cancer with high specificity and sensitivity.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If standard bronchoscopy techniques are used to access peripheral lung lesions, then the procedure is simple and widely available, but the ability to obtain diagnostic cells from early-stage cancer is poor

Engineering Contradiction:
Improvediagnostic accuracyVSAvoidaccessibility to peripheral lesions
Core Design Contradiction:
Measurement precisionVSDifficulty of detecting and measuring

Solution Approach 1:

The patent uses bronchoalveolar lavage fluid as an intermediary medium to access peripheral lung lesions that are difficult to reach directly. Instead of attempting to directly biopsy peripheral tumors, the method uses lavage fluid to wash cells from the airway lining, providing a accessible sampling method that captures diagnostic cells from early-stage cancers without requiring direct access to the tumor site

Inventive Principle:
Principle #24Intermediary (Mediator)

Solution Approach 2:

The patent replaces traditional mechanical biopsy techniques with a molecular diagnostic approach. Instead of relying on mechanical force to obtain tissue samples from hard-to-reach areas, the method uses gene expression analysis of cells obtained through lavage to identify cancer, substituting mechanical access with molecular detection

Inventive Principle:
Principle #28Mechanics substitution (Replace mechanical system)

2Reliability

If gene expression analysis is performed on biological samples, then cancer detection specificity and sensitivity improve to at least 70%, but the complexity of the diagnostic process increases

Engineering Contradiction:
Improvecancer detection accuracyVSAvoiddiagnostic procedure complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent segments the complex diagnostic process into distinct manageable steps: (1) obtaining biological samples through bronchoalveolar lavage, (2) extracting and analyzing gene expression products, (3) comparing expression patterns against reference data, and (4) generating diagnostic results. This segmentation makes the complex molecular diagnostics process more systematic and reproducible

Inventive Principle:
Principle #1Segmentation

Solution Approach 2:

The patent transforms the diagnostic approach by changing from analyzing physical tissue morphology to measuring molecular parameter changes in gene expression. By quantifying expression levels of specific genes and comparing them to reference patterns, the method achieves high diagnostic accuracy through molecular parameter analysis rather than structural assessment

Inventive Principle:
Principle #35Parameter changes

3Loss of information

If tissues from suspicious lesions are sampled directly, then diagnostic information is obtained, but reproducibility of sampling is poor

Engineering Contradiction:
Improvediagnostic information qualityVSAvoidsampling reproducibility
Core Design Contradiction:
Loss of informationVSReliability

Solution Approach 1:

The patent uses bronchoalveolar lavage fluid as an intermediary that reliably samples the airway lining cells without requiring direct access to suspicious lesions. The lavage procedure can be consistently performed and provides reproducible cellular samples that maintain diagnostic information quality, overcoming the variability in directly sampling peripheral tumors

Inventive Principle:
Principle #24Intermediary (Mediator)

4Ease of manufacture

If histologically normal cells are sampled from routine procedures, then sample availability and reproducibility improve, but the ability to detect cancer at remote loci becomes more challenging

Engineering Contradiction:
Improvesample obtainabilityVSAvoidcancer detection capability
Core Design Contradiction:
Ease of manufactureVSMeasurement precision

Solution Approach 1:

The patent applies the concept of field of injury by sampling from the airway lining (a different dimension or location) rather than directly from the tumor site. The lavage procedure samples cells from the bronchial epithelium, which reflects the molecular state of the airway field, allowing cancer detection at remote loci through molecular signatures that transcend direct spatial proximity

Inventive Principle:
Principle #17Another dimension (Dimensionality change)

Data Source

PatentUS12297505B2Algorithms for disease diagnostics
Publication Date: 2025.05.13 VERACYTE INC
  • US12297505B2 patent drawing
  • US12297505B2 patent drawing
  • US12297505B2 patent drawing

AI summary

The present invention relates to compositions and methods for molecular profiling and diagnostics for genetic disorders and cancer, including but not limited to gene expression product markers associated with cancer or genetic disorders. In particular, the present invention provides algorithms and methods of classifying cancer, for example, thyroid cancer, methods of determining molecular profiles, and methods of analyzing results to provide a diagnosis.