Targeted Amplicon Sequencing Panel for Hearing Loss Diagnosis
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Solution Overview
Problem
Current newborn hearing screening methods rely solely on physiologic testing, which is not informative about the etiology of hearing loss, may miss mild or progressive forms, and has a high false positive rate, failing to identify genetic and infection-induced causes effectively.
Innovation Solution
A method involving nucleic acid sequence data processing to generate patient datasets, comparing them to biomarker panels to identify genetic variants associated with hearing loss, including nonsyndromic genetic hearing loss, syndromic forms, and infection-induced hearing loss, with a fully automated system capable of providing results within two weeks.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If comprehensive massively parallel sequencing panels are used for diagnosis, then diagnostic accuracy and etiological information are improved, but cost and turnaround time increase significantly
Solution Approach 1:
The patent segments the comprehensive sequencing panel into a targeted panel focusing only on genes associated with hearing loss and related conditions. This segmentation reduces the scope of sequencing from the entire genome to specific biomarker regions, thereby reducing turnaround time and cost while maintaining diagnostic accuracy for the intended purpose.
Solution Approach 2:
The patent applies local quality by concentrating sequencing resources on specific genomic regions of interest (biomarkers associated with hearing loss) rather than uniformly sequencing the entire genome. This localized approach optimizes the quality and depth of analysis for clinically relevant regions while reducing overall testing time and cost.
2Measurement precision
If comprehensive massively parallel sequencing panels are used for diagnosis, then diagnostic accuracy and etiological information are improved, but cost increases
Solution Approach 1:
The patent segments the comprehensive sequencing panel into a targeted panel focusing only on genes associated with hearing loss and related conditions. This segmentation reduces the scope of sequencing from the entire genome to specific biomarker regions, thereby reducing overall testing cost while maintaining diagnostic accuracy for the intended purpose.
Solution Approach 2:
The patent applies partial action by performing sequencing only on the necessary subset of genomic regions (hearing loss-associated biomarkers) rather than the complete genome. This partial sequencing approach achieves sufficient diagnostic accuracy for the clinical indication while significantly reducing cost compared to comprehensive panels.
3Quantity of substance
If physiologic screening alone is used, then cost is reduced, but etiological information is lost and mild or progressive hearing loss may be missed
Solution Approach 1:
The patent merges physiologic screening with targeted genetic sequencing in a unified diagnostic workflow. This combination allows the system to maintain the cost-effectiveness of physiologic screening while adding etiological information through genetic analysis, thereby identifying both the presence and cause of hearing loss including mild or progressive forms.
Solution Approach 2:
The patent creates a multi-functional screening system that simultaneously performs detection of hearing loss (physiologic function) and identification of genetic causes (etiological function). This universal approach enables a single testing strategy to serve multiple diagnostic purposes, providing both screening sensitivity and etiological characterization.
4Quantity of substance
If physiologic screening alone is used, then cost is reduced, but diagnostic completeness deteriorates due to high false positive rate and inability to detect mild cases
Solution Approach 1:
The patent merges physiologic screening with targeted genetic sequencing to create a more reliable diagnostic system. This combination reduces false positives by confirming hearing loss with genetic findings and improves diagnostic completeness by detecting mild or progressive cases through genetic identification of at-risk individuals before severe symptoms manifest.
Data Source
AI summary
In certain embodiments, the present invention provides the design of a targeted, amplicon-based massively parallel sequencing (MPS) panel focusing on amplifying specific regions of interest associated with genetic hearing loss and infectious diseases associated with hearing loss. The present invention also provides the design of a bioinformatics pipeline capable of performing automated analysis of regions of interest generated by the amplicon-based MPS panel, a targeted gene panel, exome sequencing, or genome sequencing.