Glaucoma Risk Assessment via Polygenic Scoring
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Solution Overview
Problem
Current screening strategies for glaucoma lack sensitivity and specificity, leading to undiagnosed cases and inadequate early intervention.
Innovation Solution
A method for assessing the risk of primary open angle glaucoma by determining a risk score based on the genetic content of a subject at selected genetic loci or markers associated with glaucoma, increased intraocular pressure, vertical cup to disk ratio, and multi-trait tests.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Measurement precision
If current screening strategies are used, then screening can be performed, but sensitivity and specificity are insufficient leading to undiagnosed cases
Solution Approach 1:
The invention segments the glaucoma risk assessment by dividing the genome into specific loci and markers (e.g., MYOC, OPTN, TIMP3 genes and multiple SNPs). Each genetic marker is evaluated independently to contribute to an overall polygenic risk score, enabling precise identification of individuals at different risk levels and improving both sensitivity and specificity of screening.
Solution Approach 2:
The invention changes the parameter of risk assessment from traditional clinical observations to quantitative genetic parameters. By measuring genetic content at multiple loci and calculating a polygenic risk score with specific thresholds (e.g., top 10%, 20%, 30% risk percentiles), the system achieves more accurate and objective diagnosis that improves both sensitivity and specificity compared to conventional screening.
2Measurement precision
If genetic testing at multiple loci is performed, then risk assessment accuracy is improved, but test complexity increases
Solution Approach 1:
The invention creates a universal genetic testing panel that can assess risk for multiple glaucoma-related traits simultaneously (intraocular pressure, cup-to-disc ratio, and glaucoma susceptibility) by testing a common set of genetic loci and markers. This multi-functional approach improves risk assessment accuracy without proportionally increasing test complexity, as a single panel serves multiple diagnostic purposes.
Solution Approach 2:
The invention uses DNA copying and amplification techniques to replicate the genetic material at multiple loci, allowing simultaneous analysis of numerous markers from a single blood or saliva sample. This copying approach enables comprehensive genetic screening without requiring multiple separate tests, thereby improving accuracy while managing complexity through efficient sample utilization.
3Reliability
If early detection through genetic screening is implemented, then undiagnosed cases are identified, but screening cost-effectiveness is reduced
Solution Approach 1:
The invention performs preliminary genetic screening to identify high-risk individuals before clinical symptoms manifest. By detecting genetic predisposition early through polygenic risk scoring, the system enables preventive interventions and targeted monitoring, improving early detection rates while reducing overall healthcare costs by avoiding unnecessary extensive workups for low-risk individuals.
Solution Approach 2:
The invention applies different screening intensities and follow-up protocols to different risk groups identified by the polygenic risk score. High-risk individuals (e.g., top 10% percentile) receive intensive monitoring and early intervention, while low-risk individuals receive standard care. This localized quality approach improves early detection where needed while maintaining cost-effectiveness through resource optimization.
Data Source
AI summary
The present disclosure relates to methods and systems for assessing the risk of glaucoma in a subject. In certain embodiments, the present disclosure provide a method of assessing the risk of primary open angle glaucoma in a subject, the method comprises determining a risk score for primary open angle glaucoma in the subject on the basis of the genetic content of the subject at a plurality of selected genetic loci or markers and thereby assessing the risk of primary open angle glaucoma in the subject, wherein the selected genetic loci or markers comprise (i) genetic loci or markers having an association with glaucoma, and/or (ii) genetic loci or markers having an association with increased intraocular pressure, and/or (iii) genetic loci or markers having an association with an increased vertical cup to disk ratio, and/or (iv) genetic loci or markers having an association with a multi-trait test of glaucoma, intraocular pressure and vertical cup to disc ratio. Other embodiments are described.