Polygenic Risk Scores and Genetically Complex Eye Disease

Abstract

The success of genome-wide association studies (GWASs) in uncovering genetic variants associated with complex eye diseases has paved the way for the development of risk prediction approaches based on disease genetics. Derived from GWAS data, polygenic risk scores (PRSs) have been emerging as a promising indicator of an individual's genetic liability to disease. In this review, we recap the current progress of PRS development and utility across a range of common eye diseases. While illustrating the prediction accuracy of PRSs and their valuable role in risk stratification for certain eye diseases, we also address PRSs' uncertain implementation in clinical settings at this stage, particularly in circumstances where limited treatment options are available. Finally, we discuss obstacles in translating PRSs into practice, including barriers to clinical impact, issues when working with different ancestry groups, and communicating risk scores, as well as projections for future improvements.

Keywords: age-related macular degeneration; genetic risk scores; genome-wide association study; glaucoma; polygenic scores; risk prediction.