Cancer Biomarker Detection via Segmented Genetic Analysis

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Solution Overview

Problem

Current methods for diagnosing and treating hematological cancers, such as diffuse large B-cell lymphoma, lack precision in identifying genetic alterations and predicting clinical outcomes, leading to inadequate treatment approaches for high-risk patients.

Innovation Solution

A method involving the determination of copy number, expression, or activity levels of specific biomarkers listed in Tables 1-9, with significant modulation indicating cancer presence, progression, or treatment efficacy, using techniques like microarray analysis, PCR, or FISH, to stratify patients and tailor therapeutic strategies.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If current methods (karyotype analysis, FISH, array CGH) are used for diagnosing hematological cancers, then basic genetic alterations can be detected, but measurement precision and ability to identify precise boundaries of copy number alterations remain insufficient

Engineering Contradiction:
Improveprecision in identifying genetic alterationsVSAvoidcomplexity of diagnostic methods
Core Design Contradiction:
Measurement precisionVSDevice complexity

Solution Approach 1:

The patent segments the diagnostic process into multiple layers: first identifying recurrent copy number alterations using array CGH, then further characterizing them with FISH and karyotype analysis. This segmented approach allows precise identification of genetic alterations while managing complexity by breaking down the diagnostic workflow into manageable stages, each contributing specific precision at different levels of resolution.

Inventive Principle:
Principle #1Segmentation

2Measurement precision

If comprehensive genetic analysis is performed to identify precise boundaries of copy number alterations, then diagnostic precision improves, but time and resource consumption increase

Engineering Contradiction:
Improveprecision in identifying genetic alterationsVSAvoidtime for diagnosis and treatment planning
Core Design Contradiction:
Measurement precisionVSLoss of time

Solution Approach 1:

The patent performs preliminary action by first identifying recurrent copy number alterations using array CGH before proceeding to more time-consuming FISH and karyotype analyses. This preliminary screening step filters out cases that don't require extensive analysis, thereby reducing overall diagnostic time while maintaining precision for cases that do show alterations. The preliminary identification of CNAs guides subsequent focused investigations.

Inventive Principle:
Principle #10Preliminary action

3Reliability

If current diagnostic methods are used, then basic cancer detection is possible, but ability to predict clinical outcomes and stratify patients remains inadequate

Engineering Contradiction:
Improvereliability in predicting clinical outcomesVSAvoidcomplexity of prognostic assessment
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent implements feedback by correlating genetic alteration data (from array CGH, FISH, and karyotype analysis) with clinical outcome data to develop prognostic models. The results feed back into refining the diagnostic criteria and identifying new genetic markers. This continuous feedback loop improves reliability in predicting clinical outcomes by systematically learning from accumulated data while managing complexity through iterative model refinement.

Inventive Principle:
Principle #23Feedback

4Productivity

If standard immunochemotherapy is administered to all patients, then treatment simplicity is maintained, but effectiveness for high-risk patients deteriorates

Engineering Contradiction:
Improveeffectiveness of treatmentVSAvoidcomplexity of treatment strategy
Core Design Contradiction:
ProductivityVSDevice complexity

Solution Approach 1:

The patent applies local quality by tailoring treatment strategies to specific patient groups based on their genetic profiles. Instead of uniform treatment, patients with identified recurrent copy number alterations receive customized therapeutic approaches (such as targeted therapies or clinical trials) while others receive standard immunochemotherapy. This localized customization improves overall treatment effectiveness by matching therapy to patient-specific characteristics while managing complexity through risk-stratified management.

Inventive Principle:
Principle #3Local quality

Applied Scientific Principles

This section explains which scientific principles are used to turn an abstract innovation direction into a practical engineering solution.

Function Achieved in This Case

This approach enables accurate identification of cancer risk, monitoring of disease progression, and personalized treatment strategies, improving clinical outcomes by modulating biomarker levels with agents like miRNAs or antibodies.

Implementation Method 1

using techniques like microarray analysis, PCR, or FISH

Methodology Applied
Scientific EffectMolecular hybridization:

Data Source

PatentUS9890429B2Compositions, kits, and methods for the identification, assessment, prevention, and therapy of cancer
Publication Date: 2018.02.13 THE BROAD INST INC
  • US9890429B2 patent drawing
  • US9890429B2 patent drawing
  • US9890429B2 patent drawing

AI summary

The present invention relates to compositions, kits, and methods for detecting, characterizing, preventing, and treating cancer (e.g., hematological malignancies in humans). A variety of biomarker chromosomal number alterations (CNAs) and biomarkers corresponding thereto, are provided, wherein alterations in the copy number of one or more of the biomarker CNAs and/or alterations in the amount, structure, and/or activity of one or more of the biomarkers comprised within the CNAs is associated with cancer status.