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Glaucoma is an eye condition characterized by increased intraocular pressure that damages the retina and optic nerve, leading to irreversible blindness if left untreated. The human eye has various components, including the cornea, iris, pupil, lens, and optic nerve. Aqueous humor is secreted by the epithelium of the ciliary body in the posterior chamber and flows through the trabecular meshwork and canal of Schlemm, maintaining normal intraocular pressure. The trabecular meshwork and the canal...
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Updated: Jun 13, 2025

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Healthcare professionals' knowledge and attitudes towards polygenic risk testing for glaucoma.

Georgina L Hollitt1, Miriam C Keane1, Thi T Nguyen1

  • 1College of Medicine and Public Health, Flinders Health and Medical Research Institute, Flinders University, Adelaide, Australia.

Clinical & Experimental Ophthalmology
|September 8, 2024
PubMed
Summary

Healthcare professionals show positive attitudes towards polygenic risk testing for glaucoma but lack familiarity. Training is crucial for implementing this genetic test in clinical practice.

Keywords:
attitudehealthcare professionalsopen‐angle glaucomapolygenic risk scorespolygenic testing

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Area of Science:

  • Ophthalmology
  • Genetics
  • Healthcare Professional Education

Background:

  • Clinical implementation of polygenic risk testing for glaucoma depends on healthcare professionals' knowledge and attitudes.
  • Emerging applications necessitate competency in polygenic risk scores for all involved in patient care.
  • This study is the first to assess healthcare professionals' views on polygenic testing for glaucoma.

Purpose of the Study:

  • To assess healthcare professionals' attitudes and knowledge regarding polygenic risk testing for glaucoma.
  • To identify factors influencing the recommendation and implementation of polygenic risk testing.
  • To determine training needs for effective clinical integration of polygenic risk scores.

Main Methods:

  • An online cross-sectional questionnaire was distributed to Australian healthcare professionals.
  • The survey assessed experience, confidence, and knowledge of genetic testing and glaucoma.
  • It also evaluated recommendations for polygenic risk testing and influencing factors.

Main Results:

  • Familiarity with polygenic risk scores for glaucoma was low (11%) among 94 participants.
  • The majority had positive attitudes towards recommending testing (91% for family history, 57% for age).
  • Ophthalmologists were identified as the most appropriate group for ordering and communicating results, with 93% desiring more training.

Conclusions:

  • Healthcare professionals exhibit low familiarity and confidence with glaucoma polygenic risk testing.
  • Significant training and education are needed to support the clinical implementation of this genetic test.
  • Addressing these needs is essential for integrating polygenic risk scores into glaucoma patient care.