Attitudes Towards Polygenic Risk Testing in Individuals with Glaucoma

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

doi:10.1016/j.ogla.2021.11.002

Cited by 16 publications

(12 citation statements)

References 38 publications

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“…We have previously demonstrated strong interest in polygenic risk testing for glaucoma among various groups, including those with diagnosed glaucoma, those with a rst-degree relative with glaucoma, and those without any personal or family history of the condition. 32,49 Although PRS testing for glaucoma was theoretically accepted, we identi ed a number of concerns and potential barriers to implementation, including residing in a rural location and unwillingness to pay for testing. There are a number of additional questions which must rst be addressed before PRSs can be integrated into clinical practice.…”

Section: Discussionmentioning

confidence: 99%

“…We have previously demonstrated that the preferred method of receiving results may depend on the result itself, so report content and structure will likely vary depending on risk classi cation. 32,49 This study will form the foundations of future research to develop our understanding of the clinical implementation of PRS testing for glaucoma and AMD.…”

Section: Discussionmentioning

confidence: 99%

“…All eligible individuals who participated in a questionnaire-based study of individuals without glaucoma assessing attitudes towards polygenic risk testing for glaucoma will be invited to participate in this study. 32 A yer advertising the project will be displayed in public and private outpatient clinics, and sporting venues and community clubs, provided to social/community organisations and distributed via email to these groups. Presentations about degenerative eye disease will be given to community organisations to promote interest and stimulate recruitment from the general population.…”

Section: Participantsmentioning

confidence: 99%

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Genetic Risk Assessment of Degenerative Eye Disease (GRADE): Design of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.

Hollitt

Qassim

Thomson

et al. 2023

Preprint

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Background: Glaucoma and age-related macular degeneration (AMD) account for a substantial portion of global blindness. Both conditions are highly heritable, with recognised monogenic and polygenic inheritance patterns. Current screening guidelines lack decisive recommendations. Polygenic risk scores (PRS) allow for cost-effective broad population risk stratification for these conditions. The predictive potential of PRS could facilitate earlier diagnosis and treatment, and prevent unnecessary vision loss. Methods: The Genetic Risk Assessment of Degenerative Eye disease (GRADE) study is a prospective study designed to generate high-quality evidence about the feasibility of PRS to stratify individuals from the general population, enabling identification of those at highest risk of developing glaucoma or AMD. The targeted recruitment is 1000 individuals aged over 50 years, from which blood or saliva samples will be used for genotyping and an individual PRS for glaucoma and AMD will be derived. Individuals with PRS values in the bottom decile (n=100), top decile (n=100) and middle 80% (n=100) for both glaucoma and AMD will undergo a detailed eye examination for glaucoma and/or AMD. Discussion: The primary objective will be to compare the prevalence of glaucoma and AMD cases between low, intermediate, and high PRS risk groups. We expect to find a higher prevalence of both diseases in the high PRS risk group, as compared to the middle and low risk groups. This prospective study will assess the clinical validity of a PRS for glaucoma and AMD in the general Australian population. Positive findings will support the implementation of PRS into clinical practice.

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Section: Discussionmentioning

confidence: 99%

Section: Discussionmentioning

confidence: 99%

Section: Participantsmentioning

confidence: 99%

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Genetic Risk Assessment of Degenerative Eye Disease (GRADE): Design of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.

Hollitt

Qassim

Thomson

et al. 2023

Preprint

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“…Our findings provide useful insights into the attitude of unaffected individuals toward glaucoma genetic risk testing, and demonstrated a similar level of interest toward PRS testing for glaucoma among unaffected individuals (71.3%) compared with individuals with diagnosed glaucoma (69.4%). 21 …”

Section: Discussionmentioning

confidence: 99%

“…Before this can occur, it is necessary to understand how such testing may be received by the general population and what key social and behavioral elements may impact implementation. The attitudes of affected individuals have been previously assessed, 19 , 20 including for glaucoma, 21 however, they have not been assessed in unaffected individuals who will be the ones benefiting from the test. In this study, we addressed this gap and reported the attitudes of individuals without diagnosed glaucoma toward glaucoma PRS testing, and the demographic and psychosocial factors that influence this.…”

Section: Introductionmentioning

confidence: 99%

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Hollitt

Siggs

Ridge

et al. 2022

Trans. Vis. Sci. Tech.

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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.

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Glaucoma – risk factors and current challenges in the diagnosis of a leading cause of visual impairment

Lee

Mackey

2022

Maturitas

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Attitudes Towards Polygenic Risk Testing in Individuals with Glaucoma

Cited by 16 publications

References 38 publications

Genetic Risk Assessment of Degenerative Eye Disease (GRADE): Design of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.

Genetic Risk Assessment of Degenerative Eye Disease (GRADE): Design of a prospective assessment of polygenic risk scores to predict diagnosis of glaucoma and age-related macular degeneration.

Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Glaucoma – risk factors and current challenges in the diagnosis of a leading cause of visual impairment

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