GENE-SIGHT

Facilitating the integration of genetic risk scores into optical healthcare

Why this research matters? 

Age-related macular degeneration (AMD) and glaucoma are types of degenerative eye disease, and the leading causes of vision loss in individuals over 60. While the most significant risk for both conditions is age, there is also a strong genetic contribution that increases an individual’s risk of developing either condition. Recently, a Polygenic Risk Score (PRS) was developed to measure an individual’s risk of developing AMD and glaucoma. However, PRS is not routinely used in healthcare due to a lack of clinician awareness/education and limited research on their clinical utility and improving health incomes.

Study aims  

This study aims to facilitate the integration of glaucoma and AMD PRS into optical healthcare by capturing stakeholders’ perspective regarding its value, feasibility, and utility, as well as developing and evaluating educational interventions to empower optical health professionals to offer testing.

Current research updates 

Our current research includes: 

  • Conducting interviews with relevant stakeholders, including experts in clinical, laboratory, and research roles with expertise in glaucoma or AMD PRS from Australia, as well as experts within professional governing bodies. Interviews will capture PRS-related awareness/attitudes, as well as perceived utility and feasibility of AMD and glaucoma PRS in optical healthcare. Ultimately, it is hoped these findings will empower leading professional bodies to develop guidelines facilitating the integration of PRS for AMD and glaucoma into optical care.

What’s next? Future research areas  

In the future, we will: 

  • Develop co-designed online and face-to-face education to upskill optometrists and ophthalmologists on the use of PRS, including PRS background and how to order/interpret tests.

  • Evaluate utility and effectiveness of educational interventions, including subsequent uptake of PRS testing for AMD and glaucoma

Staying up to date  

If you’re interested in learning more about this research or getting involved, please contact us via email.  

📩 igmgenomics@uq.edu.au

Who is working on this study?  

How is this study funded?  

This project is funded by a Philanthropic Grant from the University of Queensland.