Polygenic Score for Thoracic Aortic Aneurysm Risk
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Solution Overview
Problem
Current methods for detecting thoracic aortic aneurysms are often asymptomatic until complications arise, lacking effective preventive screening and relying on invasive surgical interventions, as there are no routine clinical screening guidelines for thoracic aortic aneurysms unlike abdominal aortic aneurysms.
Innovation Solution
The method involves detecting single nucleotide polymorphisms (SNPs) in specific genes such as PKN2, NAV1, GDF7, and others, and calculating a polygenic score to assess the risk of thoracic aortic aneurysms, combined with anthropometric and phenotypic parameters like aortic diameter measured through CT, MRI, or echocardiography, to identify individuals at increased risk.
Engineering Contradictions & Design Principles
Engineering Contradiction Analysis
1Reliability
If population screening for thoracic aortic aneurysm is not routinely performed, then the prevalence of undetected aneurysms remains high, but the complexity and cost of screening programs are avoided
Solution Approach 1:
The patent applies preliminary action by using genetic testing to identify individuals at high risk for thoracic aortic aneurysm before clinical symptoms appear. By detecting SNPs and calculating polygenic scores in advance, the system enables proactive screening of high-risk populations, allowing early intervention before aneurysms develop or become symptomatic.
2Reliability
If surgical or endovascular repair is performed only when aneurysms are detected, then the effectiveness of preventive therapy is maximized, but the opportunity for earlier intervention is lost
Solution Approach 1:
The patent enables preliminary identification of high-risk individuals through genetic testing before aneurysms clinically manifest. This allows timely monitoring and early intervention strategies to be implemented, potentially preventing the need for emergency surgical repair by detecting risk factors before structural damage occurs.
3Loss of time
If genetic testing for SNPs is performed to assess aneurysm risk, then early identification of at-risk individuals is enabled, but the cost and complexity of genetic analysis increase
Solution Approach 1:
The patent extracts specific high-impact SNPs from the entire genome to create a focused polygenic risk score for thoracic aortic aneurysm. By selecting and analyzing only the most relevant genetic markers rather than performing whole-genome sequencing, the method reduces computational complexity and cost while maintaining predictive accuracy for aneurysm risk assessment.
Data Source
AI summary
The disclosure provides methods of assessing a subject's risk of ascending thoracic aortic aneurysm or descending thoracic aortic aneurysm by detecting one or more single nucleotide polymorphisms (SNP) in one or more specific genes. The disclosure also provides methods of calculating a polygenic score to assess a subjects risk. Such methods may be used, for example, to identify asymptomatic subjects at risk for aneurysm.