Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Georgina L. Hollitt, Owen M. Siggs, Bronwyn Ridge, Miriam C. Keane, David A. Mackey, Stuart MacGregor, Alex W. Hewitt, Jamie E. Craig, Emmanuelle Souzeau

Research output: Contribution to journalArticlepeer-review

2 Citations (Scopus)


Purpose: Integrating polygenic risk scores (PRS) into healthcare has the potential to stratify an individual's risk of glaucoma across a broad population. Glaucoma is the most common cause of irreversible blindness worldwide, therefore effective screening for glaucoma endorsed by the population is highly important. This study assessed the attitude of unaffected individuals toward PRS testing for glaucoma, and sought to identify factors associated with interest in testing. Methods: We surveyed 418 unaffected individuals including 193 with a first-degree relative with glaucoma, 117 who had a recent eye examination, and 108 general members of the community. Results: Overall, 71.3% of the individuals indicated an interest in taking a polygenic risk test for glaucoma. Interest was more likely in those who believed glaucoma to be a severe medical condition (odds ratio [OR] = 14.58, 95% confidence interval [CI] = 1.15-185.50, P = 0.039), those concerned about developing glaucoma (OR = 4.37, 95% CI = 2.32-8.25, P < 0.001), those with an intention to take appropriate measures regarding eye health (OR = 2.39, 95% CI = 1.16-4.95, P = 0.019), and those preferring to know if considered to be at-risk or not (OR = 4.52, 95% CI = 2.32-8.83, P < 0.001). Conclusions: Our results show strong interest in genetic risk assessment for glaucoma among unaffected individuals in Australia. Translational Relevance: These findings represent a valuable assessment of interest in glaucoma polygenic risk testing among potential target populations, which will be integral to the implementation and uptake of novel PRS-based tests into clinical practice.

Original languageEnglish
Pages (from-to)38
Number of pages1
JournalTranslational Vision Science and Technology
Issue number10
Publication statusPublished or Issued - 3 Oct 2022
Externally publishedYes

ASJC Scopus subject areas

  • Biomedical Engineering
  • Ophthalmology

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