Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Area of Science:

• Ophthalmology
• Genetics
• Public Health

Background:

• Glaucoma is a leading cause of irreversible blindness globally.
• Effective population-wide screening is crucial for glaucoma prevention.
• Polygenic risk scores (PRS) offer a novel approach to stratify glaucoma risk.

Purpose of the Study:

• To assess the attitude of unaffected individuals towards polygenic risk score (PRS) testing for glaucoma.
• To identify factors associated with interest in glaucoma PRS testing.

Main Methods:

• Surveyed 418 unaffected individuals in Australia.
• Included participants with a family history of glaucoma, recent eye exams, and general community members.
• Analyzed factors influencing interest in PRS testing.

Main Results:

• 71.3% of individuals expressed interest in glaucoma PRS testing.
• Interest was higher among those perceiving glaucoma as severe (OR=14.58), concerned about developing it (OR=4.37), intending to take eye health measures (OR=2.39), and preferring risk status knowledge (OR=4.52).

Conclusions:

• Strong interest exists in genetic risk assessment for glaucoma among the Australian population.
• Findings support the potential implementation and uptake of PRS-based glaucoma screening tools.