Gene Sequencing Data Reuse With Quality-Controlled Variant Reporting
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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 quality-controlled data storage and retrieval of genetic variants, allowing for multiple uses of sequencing data, with quality control thresholds and retesting if necessary, and using machine learning and regression models for analytical tools.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Adaptability or versatility
If genetic testing is performed ad hoc for each diagnostic request, then the testing can be tailored to specific symptoms, but the process becomes time-consuming and expensive with results taking days or weeks
Solution Approach 1:
The system performs whole genome sequencing and stores the complete genetic data in advance, before any specific diagnostic request is made. This preliminary action eliminates the need for repeated sequencing operations, as all genetic information is already captured and archived for rapid retrieval and analysis when diagnostic needs arise.
Solution Approach 2:
The patent creates a universal genetic data repository that can serve multiple diagnostic purposes simultaneously. A single sequencing operation generates data that can be reused across numerous different diagnostic queries, making the system versatile while efficient.
2Measurement precision
If biological samples are repeatedly collected and re-tested, then diagnostic accuracy can be improved, but the risk of contamination, misplacement, and errors increases
Solution Approach 1:
The system creates digital copies of the genetic information through sequencing and stores these data copies in a database. Instead of repeatedly handling physical biological samples, the system works with digital replicas of the genetic data, eliminating contamination and misplacement risks while maintaining diagnostic accuracy.
Solution Approach 2:
The stored genetic data serves itself across multiple diagnostic queries without requiring new sample collection. The original sequenced data can be repeatedly analyzed for different conditions, making the sample essentially self-sufficient for multiple diagnostic purposes.
3Loss of information
If comprehensive gene sequencing is performed for all genetic data, then complete diagnostic information is available, but the data management and analysis complexity increases
Solution Approach 1:
The system extracts and stores only the relevant genetic variant information from the comprehensive sequencing data in a structured database format. When diagnostic requests are made, only the specific genetic variants related to the condition are retrieved and analyzed, rather than managing and processing the entire genome data set for every query.
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.