Attitudes Towards Polygenic Risk Testing in Individuals with Glaucoma

Area of Science:

• Ophthalmology
• Genetics
• Public Health

Background:

• Glaucoma is a leading cause of irreversible blindness globally.
• Early detection and treatment are crucial for preventing vision loss.
• Polygenic risk scores (PRS) show potential for stratifying risk in primary open-angle glaucoma (POAG).

Purpose of the Study:

• To assess patient attitudes towards polygenic risk score (PRS) testing for primary open-angle glaucoma (POAG).
• To understand factors influencing patient interest in PRS testing for glaucoma.
• To inform the clinical integration of PRS testing in glaucoma management.

Main Methods:

• A cross-sectional, questionnaire-based study was conducted.
• 2369 adults with POAG were invited from the Australian and New Zealand Registry of Advanced Glaucoma.
• 1169 participants (49% response rate) completed the survey on attitudes towards PRS testing.

Main Results:

• A significant majority (69.4%) expressed keen interest in PRS testing had it been available before diagnosis.
• Interest was higher among individuals from urban areas, those perceiving higher personal risk, and those worried about developing glaucoma.
• Interest in PRS testing correlated with a likelihood to change eye health-seeking behaviors and recommend testing to others.

Conclusions:

• Patient interest in PRS testing for glaucoma is substantial.
• Understanding patient perspectives is key for successful clinical implementation of PRS testing.
• PRS testing has the potential to facilitate early glaucoma detection and reduce irreversible vision loss.