Multiplex FISH and Sequencing for Accurate Breast Cancer Biomarker Diagnosis
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Solution Overview
Problem
Current diagnostic methods for breast cancer lack accuracy and precision, leading to high rates of misdiagnosis, overdiagnosis, and unnecessary chemotherapy, and are time-consuming, failing to provide comprehensive and personalized treatment recommendations due to limited biomarker analysis and reliance on multiple tests.
Innovation Solution
A method combining multiplex fluorescence in situ hybridization (FISH) and sequencing to detect and confirm the presence of multiple mRNA and miRNA biomarkers in formaldehyde-fixed tissue samples, using laser capture microdissection to isolate and validate positive results, thereby enhancing diagnostic accuracy and reducing analysis biases.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If multiple diagnostic tests are performed to improve diagnostic accuracy, then diagnostic precision is improved, but loss of time increases
Solution Approach 1:
The patent combines multiple diagnostic tests into a single integrated assay that simultaneously performs FISH for biomarker detection and sequencing for validation. This merging of multiple separate tests into one unified diagnostic platform reduces the time required while maintaining high diagnostic accuracy through cross-validation of results.
Solution Approach 2:
The patent performs preliminary FISH screening to identify potential biomarkers before proceeding to sequencing validation. This preliminary action filters out false positives early, reducing the need for multiple sequential tests and thereby decreasing overall diagnostic time while maintaining precision.
2Ease of operation
If conventional FISH methods are used to detect biomarkers, then ease of operation is improved, but measurement precision deteriorates
Solution Approach 1:
The patent implements a feedback mechanism where FISH results are used to guide subsequent sequencing analyses. The FISH screening identifies candidate biomarkers, and sequencing then validates and quantifies these findings with higher precision, creating a feedback loop that maintains ease of operation while improving measurement accuracy.
Solution Approach 2:
The patent segments the diagnostic process into two distinct but complementary stages: FISH-based screening for ease of detection and sequencing-based validation for precise quantification. This segmentation allows each method to optimize for its strength while the combination achieves both ease of operation and high precision.
3Device complexity
If single biomarker analysis is performed to simplify the diagnostic process, then device complexity is reduced, but loss of information increases
Solution Approach 1:
The patent creates a universal diagnostic platform that can simultaneously detect multiple biomarkers through FISH and validate them through sequencing. This multi-functional approach allows a single integrated assay to provide comprehensive biomarker profiling without requiring multiple separate tests, thereby reducing overall complexity while preventing information loss.
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 precise, rapid, and personalized diagnosis of breast cancer by simultaneously assessing multiple biomarkers, reducing diagnostic errors and enabling tailored treatment plans, while minimizing false positives and negatives.
Implementation Method 1
determining by multiplex fluorescence in situ hybridization (FISH) whether or not mRNA species of disease-associated biomarkers are present
Implementation Method 2
that part of said sample in which said mRNA species of disease-associated biomarkers was determined in step (a) to be present is subject to laser capturing and isolation
Data Source
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AI summary
The present invention relates to methods for diagnosing a disease by determining via multiplex fluorescence in situ hybridization (FISH) whether or not mRNA species and/or at least one miRNA species of disease-associated biomarkers are present in a sample obtained from a subject, and by determining by multiplex sequencing whether or not said mRNA species of disease-associated biomarkers and/or said miRNA species of disease-associated biomarkers of step(a) are present in said sample. The present invention also relates to kits for performing the methods for diagnosis as described and provided herein as well as use of such kits for performing the methods for diagnosis as described and provided herein.