Cell-free DNA Analysis for Chromosomal Aberration Detection
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Solution Overview
Problem
Current cancer screening and monitoring techniques are unreliable, expensive, and often expose patients to radiation, with limited ability to detect small genetic aberrations or provide effective prognosis and treatment monitoring.
Innovation Solution
Analyzing cell-free DNA fragments in biological samples to identify chromosomal imbalances, such as deletions and amplifications, using a method that compares haplotype values across multiple loci to diagnose, screen, and monitor cancer progression.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If traditional cancer screening techniques are used, then cancer detection is possible, but the techniques are unreliable and expose patients to radiation
Solution Approach 1:
The patent replaces traditional imaging-based screening techniques (which use radiation) with a molecular genetics-based approach. By analyzing DNA sequences, chromosomal aberrations, and genetic markers in biological samples, the system detects cancer through biochemical analysis rather than physical radiation exposure, thereby eliminating the harmful radiation factor while maintaining detection reliability.
Solution Approach 2:
The patent uses biological molecules (DNA, RNA, proteins) as intermediaries to detect cancer. Instead of directly imaging tumors with radiation, the system analyzes molecular markers and genetic aberrations in blood or tissue samples, which serve as intermediaries that indicate cancer presence without requiring direct radiation exposure to the patient.
2Measurement precision
If current monitoring techniques are used, then treatment progress can be assessed, but the techniques are expensive and invasive
Solution Approach 1:
The patent employs inexpensive molecular assays and genetic testing methods that can be performed on small, easily obtainable biological samples. Rather than using expensive imaging equipment or invasive procedures, the system uses affordable DNA sequencing and molecular analysis techniques that provide accurate monitoring data without significant cost or patient discomfort.
Solution Approach 2:
The patent creates molecular copies of genetic material (DNA sequences, gene expressions) to monitor cancer progression. By analyzing replicated genetic information from tissue or blood samples, the system can track treatment effects and disease state changes without requiring repeated invasive procedures or expensive imaging studies.
3Measurement precision
If locus-specific analysis is used, then detection at a particular location is possible, but small amounts of LOH cannot be detected
Solution Approach 1:
The patent divides the genome into multiple segments or regions and analyzes each segment for chromosomal aberrations. By systematically examining different genomic loci and using statistical methods to aggregate findings, the system can detect small amounts of loss of heterozygosity that would be missed in single-locus analysis, thereby improving sensitivity for small LOH detections.
Solution Approach 2:
The patent transitions from analyzing a single locus to analyzing multiple loci across different dimensions of the genome. By examining chromosomal aberrations across multiple genetic markers and using multi-dimensional data analysis, the system gains the sensitivity to detect small amounts of LOH that would be invisible in traditional single-point analyses.
4Adaptability or versatility
If known locus analysis is used, then cancer-specific locus detection is possible, but general cancer screening is not effective
Solution Approach 1:
The patent develops a universal screening platform that can detect various types of cancer through analysis of common molecular markers and chromosomal aberrations. The system is designed to be applicable across different cancer types by analyzing genetic patterns that are characteristic of malignancy in general, rather than requiring cancer-type-specific assays, thereby achieving both versatility and reliable general cancer screening.
Data Source
AI summary
Systems, apparatus, and methods are provided for determining aberrations in a biological sample from an organism. Biological samples including cell-free DNA fragments are analyzed to identify imbalances in chromosomal regions, e.g., due to deletions and/or amplifications in a tumor. Multiple loci are used for each chromosomal region. Imbalances can be used to diagnose a patient for cancer, prognosticate a patient with cancer, or to detect the presence or monitor progress of a premalignant condition. The severity of an imbalance as well as the number of regions exhibiting an imbalance can be used. A systematic analysis of non-overlapping segments of a genome can provide a general screening tool for a sample. Additionally, a patient can be tested over time to track severity of each of one or more chromosomal regions and a number of chromosomal regions to enable screening and prognosticating, as well as monitoring of progress (e.g. after treatment).