Gene Sequencing Data Reuse for Rapid Recurring Test Results
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Solution Overview
Problem
Current genetic testing processes are ad hoc, time-consuming, and expensive, often requiring days or weeks for results, and are prone to contamination, misplacement, and re-testing due to the lack of efficient sample management and quality control.
Innovation Solution
A system and method for rapid gene sequencing that includes sample management with unique identifiers, quality control thresholds, and data storage for reuse, enabling efficient delivery of diagnostic results and reducing the need for re-testing.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Loss of time
If genetic testing is performed using traditional ad hoc processes, then diagnostic results can be obtained, but the process is time-consuming (days or weeks) and expensive
Solution Approach 1:
The system performs preliminary sequencing of the entire genome or exome in advance, storing the raw sequencing data for future use. When a diagnostic test is requested, the system reuses the pre-acquired sequencing data through bioinformatic analysis rather than performing new wet-lab sequencing, thereby dramatically reducing turnaround time while maintaining diagnostic capability
Solution Approach 2:
The system creates digital copies of the genetic sequencing data that can be reused multiple times for different diagnostic purposes. Instead of repeatedly performing physical sequencing experiments, the system analyzes copies of the original sequencing data through computational methods, eliminating the time and cost of repeated wet-lab procedures
2Reliability
If genetic samples are managed through traditional processes, then samples can be tested, but contamination, misplacement, and re-testing occur frequently
Solution Approach 1:
The system replaces manual mechanical sample handling with automated computational tracking. Each sample is assigned a unique identifier and tracked through a database system that records all processing steps, storage locations, and quality control metrics. This digital tracking system eliminates manual errors in sample identification and location, preventing misplacement and contamination while reducing the complexity of physical sample management
Solution Approach 2:
The system introduces a centralized database as an intermediary between the physical sample and the diagnostic analysis. This database stores quality control values, sequencing data, and sample metadata, serving as a mediator that ensures proper tracking, quality assurance, and retrieval of samples without requiring direct manual intervention in the physical sample management process
3Adaptability or versatility
If comprehensive gene sequencing is performed for a patient, then a large amount of genetic data is obtained, but storing and managing this data for multiple diagnostic purposes becomes complex
Solution Approach 1:
The system performs a universal sequencing process that captures the entire genome or exome, creating a comprehensive genetic dataset that can serve multiple diagnostic purposes. The same raw sequencing data is reused across different diagnostic tests and time points, making the initial sequencing investment versatile for future undetermined diagnostic needs without requiring additional sequencing experiments
Solution Approach 2:
The system segments the comprehensive sequencing data into organized databases that can be queried and analyzed for specific diagnostic purposes. The data is structured with unique identifiers, quality control metrics, and metadata that enable efficient retrieval and analysis for different diagnostic tests, reducing the complexity of managing large datasets through systematic organization
Data Source
AI summary
Systems and methods herein provide for rapid patient information to healthcare providers such that the healthcare providers can make more informed diagnoses. One method includes storing gene sequencing data and called genetic variants of a patient in a data structure. The method also includes receiving a request from a healthcare provider for results of a test that reports at least a portion of the called genetic variants in relation to a diagnosis of the patient by the healthcare provider, and delivering the results of the test to the healthcare provider if a quality control value of said at least a portion of the called genetic variants meets or exceeds a predetermined threshold of quality for assisting the healthcare provider.