Abstract
Purpose :
Despite the significant progress made in genetic risk prediction, critical gaps in knowledge pertinent to understanding barriers to the implementation of polygenic risk scores (PRS) testing persist. We performed a cross-sectional, questionnaire-based study to better understand the attitudes of individuals with glaucoma toward PRS testing for glaucoma. As the leading cause of irreversible vision loss in the world, with recognised complex heritability, few environmental risk factors, and high treatability to prevent blindness, PRS testing has strong clinical utility for glaucoma.
Methods :
We surveyed 1169 individuals with glaucoma to evaluate their attitude toward polygenic risk testing for glaucoma, drawn from the Australian and New Zealand Registry of Advanced Glaucoma (ANZRAG); one of the largest databases of clinical and genetic data for primary glaucoma in the world. We assessed several factors affecting interest in testing using multivariate regression analysis.
Results :
Our results show strong interest towards testing with 68.3% of individuals being likely or highly likely to have taken the test. In particular, those from an urban area (OR 1.526, CI 1.118 – 2.084, p 0.008) or with non-advanced disease (OR 1.383, CI 1.043 – 1.833, p 0.024) showed increased interest. Increased pre-diagnosis perception of risk (OR 2.007 CI 1.245 – 3.234, p 0.004) and worry of developing glaucoma (OR 2.109, CI 1.296 – 3.432, p 0.003) were associated with increased interest in testing. Those who were interested in testing indicated being more likely to change their eye health behaviour (OR 1.532, CI 1.112 – 2.110, p 0.009), recommend testing to family (OR 12.831, CI 6.334 – 25.993, p <0.001) and non-family members (OR 3.670, CI 2.660 – 5.064, p <0.001), as well as undergo testing for prognostication (OR 4.967, CI 2.467 – 10.001, p <0.001).
Conclusions :
In summary, individuals with glaucoma showed a positive attitude toward polygenic risk testing for glaucoma. These findings support the clinical implementation of polygenic risk scores for glaucoma to reduce irreversible vision loss. Further research should be performed to better understand attitudes of those who do not have glaucoma, and the attitudes and knowledge of clinicians toward PRS testing.
This is a 2021 ARVO Annual Meeting abstract.