Attitudes Towards Polygenic Risk Testing in Individuals with Glaucoma

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

7 Citations (Scopus)


Purpose: Glaucoma is the leading cause of irreversible blindness worldwide; however, vision loss resulting from glaucoma generally can be prevented through early identification and timely implementation of treatment. Recently, polygenic risk scores (PRSs) have shown promise in stratifying individual risk and prognostication for primary open-angle glaucoma (POAG) to reduce disease burden. Integrating PRS testing into clinical practice is becoming increasingly realistic; however, little is known about the attitudes of patients toward such testing. Design: Cross-sectional, questionnaire-based study. Participants: Among the participants in the Australian and New Zealand Registry of Advanced Glaucoma, 2369 were invited to participate who fit the inclusion criteria of adults with a diagnosis of POAG who had not received genetic results that explain their condition, were not known to be deceased, resided in Australia, and had agreed to receive correspondence. Methods: One thousand one hundred sixty-nine individuals (response rate, 49%) with POAG completed the survey evaluating their attitudes towards polygenic risk testing for glaucoma. Main Outcome Measures: Sociodemographic, health, perception, and emotional factors were examined to assess associations with interest in PRS testing. Interest in PRS testing was evaluated through assessing likelihood to take the test to predict personal risk of disease and disease severity, and whether the individual would recommend the test to family members or others. Results: Our results show strong interest in the test, with 69.4% of individuals (798 of 1150) indicating a keenness in testing before diagnosis, had it been available. In particular, interest was seen in those from an urban area (odds ratio [OR], 1.70; 95% confidence interval [CI], 1.15–2.49; P = 0.007), those who perceived their risk of developing glaucoma as higher (OR, 2.05; 95% CI, 1.28–3.29; P = 0.003), and those who were worried about developing glaucoma (OR, 2.07; 95% CI, 1.27–3.37; P = 0.004). People who were interested in testing were more likely to change their eye health-seeking intentions and to recommend testing to family members and others, as well as to undergo testing for prognostication. Conclusions: These findings will help to facilitate the clinical implementation of PRS testing for glaucoma to reduce irreversible vision loss.

Original languageEnglish
Pages (from-to)436-446
Number of pages11
JournalOphthalmology Glaucoma
Issue number4
Publication statusPublished or Issued - 1 Jul 2022
Externally publishedYes


  • Attitude
  • Genetic testing
  • Glaucoma
  • POAG
  • Polygenic risk score

ASJC Scopus subject areas

  • Ophthalmology

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