Polygenic risk scores for glaucoma: Impact on diagnosis and disease course.
Kolovos Antonia, Aung Tin, Khawaja Anthony P, Wiggs Janey L, Craig Jamie E
AI Summary
Polygenic risk scores (PRS) for glaucoma show promise in improving early diagnosis and predicting disease course, offering personalized risk assessment to enhance clinical management.
Abstract
Large-scale genomic studies have uncovered significant polygenic architecture of the adult-onset glaucomas, enabling the creation of polygenic risk scores (PRS). These scores show promise in improving early case detection and predicting disease trajectory, particularly when integrated with clinical parameters, signaling a new frontier for personalised glaucoma risk assessment. As accredited PRS tools enter clinical practice, their safe and equitable implementation is essential. In this review, we synthesize the evidence base for PRS in glaucoma and described the current landscape for clinical implementation. We cover the 'Who, What, When and Where' of PRS testing for glaucoma, highlighting the clinical relevance and limitations of this precision tool.
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Key Concepts3
Polygenic risk scores (PRS) for glaucoma show promise in improving early case detection and predicting disease trajectory, especially when combined with clinical parameters.
Large-scale genomic studies have revealed a significant polygenic architecture for adult-onset glaucomas, which has enabled the development of polygenic risk scores (PRS).
The safe and equitable implementation of accredited polygenic risk score (PRS) tools for glaucoma is crucial as they are introduced into clinical practice.
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