Multiplex Genetic Screening Panel for Lung Cancer

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Solution Overview

Problem

Current lung cancer treatment regimens are often ineffective due to the limited availability of genetic variance assays and the inability to comprehensively screen for actionable genetic variations from typical tumor biopsies, leading to a lack of personalized treatment recommendations.

Innovation Solution

A method and kit for comprehensive genetic variance screening using probes that hybridize to and amplify specific genes (e.g., EGFR, ALK, ROS1, KRAS, BRAF, ERBB2, MET, RET, FGFR1, FGFR2, DDR2, NRAS, PTEN, MAP2K1, TP53, STK11, CTNNB1, SMAD4, FBXW7, NOTCH1, KIT/PGDFRA, PIK3CA, AKT1, and HRAS) in a single cancer sample, enabling actionable treatment recommendations based on detected variants.

Engineering Contradictions & Design Principles

VSEngineering Contradiction Analysis

1Measurement precision

If comprehensive genetic variance screening is performed using multiple assays, then measurement precision is improved, but loss of substance worsens due to excessive tissue consumption

Engineering Contradiction:
Improvegenetic variance detection accuracyVSAvoidtissue sample consumption
Core Design Contradiction:
Measurement precisionVSLoss of substance

Solution Approach 1:

The patent combines multiple genetic variance assays into a single integrated assay that can detect multiple genetic variations simultaneously. This merging approach allows comprehensive screening of actionable genetic variants while using only a single small tissue sample, resolving the contradiction between comprehensive detection and sample conservation.

Inventive Principle:
Principle #5Merging (Combining)

Solution Approach 2:

The invention creates a universal assay platform that can detect multiple different genetic variations across various cancer types using a single test system. This multi-functional assay eliminates the need for multiple separate assays, thereby reducing tissue consumption while maintaining comprehensive detection capability.

Inventive Principle:
Principle #6Universality (Multi-functionality)

2Reliability

If multiple genetic variance assays are performed, then reliability is improved, but device complexity worsens

Engineering Contradiction:
Improvetreatment recommendation accuracyVSAvoidassay system complexity
Core Design Contradiction:
ReliabilityVSDevice complexity

Solution Approach 1:

The patent merges multiple separate genetic variance assays into a single integrated testing system. This consolidation maintains the reliability of detecting multiple genetic variations while reducing the complexity of having to perform and coordinate multiple separate assays, thereby improving ease of operation without sacrificing detection accuracy.

Inventive Principle:
Principle #5Merging (Combining)

3Adaptability or versatility

If comprehensive genetic screening is performed, then adaptability is improved, but loss of time worsens

Engineering Contradiction:
Improvetreatment recommendation coverageVSAvoidtesting duration
Core Design Contradiction:
Adaptability or versatilityVSLoss of time

Solution Approach 1:

The invention performs preliminary identification of actionable genetic variants in a single integrated assay, allowing treatment recommendations to be generated more quickly. By consolidating multiple detection functions into one test that can be performed on a single small sample, the system reduces the overall testing time while maintaining comprehensive adaptability across different cancer types and genetic variations.

Inventive Principle:
Principle #10Preliminary action

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 allows for personalized treatment recommendations for over 50% of lung adenocarcinoma patients by identifying actionable genetic variants in a single panel, preserving valuable sample material and improving treatment efficacy.

Implementation Method 1

a set of probes that hybridize to and amplify EGFR, ALK, ROS1, KRAS, BRAF, ERBB2, ERRBB4, MET, RET, FGFR1, FGFR2, FGFR3, DDR2, NRAS, PTEN, MAP2K1, TP53, STK11, CTNNB1, SMAD4, FBXW7, NOTCH 1, KIT/PGDFRA, PIK3CA, AKT1, and HRAS genes

Methodology Applied
Scientific EffectDNA hybridization:

Implementation Method 2

a set of probes that hybridize to and amplify EGFR, ALK, ROS1, KRAS, BRAF, ERBB2, ERRBB4, MET, RET, FGFR1, FGFR2, FGFR3, DDR2, NRAS, PTEN, MAP2K1, TP53, STK11, CTNNB1, SMAD4, FBXW7, NOTCH 1, KIT/PGDFRA, PIK3CA, AKT1, and HRAS genes to detect at least one variant

Methodology Applied
Scientific EffectPCR amplification:

Data Source

PatentUS20200362421A1Classification and actionability indices for cancer
Publication Date: 2020.11.19 LIFE TECHNOLOGIES CORP
  • US20200362421A1 patent drawing
  • US20200362421A1 patent drawing
  • US20200362421A1 patent drawing

AI summary

The disclosure provides compositions, kits, and methods for detecting a plurality of genes and associated variants in a sample from a subject with cancer (e.g., lung cancer). The compositions, kits, and methods include a set of oligonucleotides, typically primers and/or probes that can hybridize to identify a gene variant. The methods disclosed herein provide for a mutation status of a tumor to be determined and subsequently associated with a report comprising an actionable treatment recommendation (e.g., a report comprising an actionable treatment recommendation).