Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

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:10.1167/tvst.11.10.38

Cited by 5 publications

(1 citation statement)

References 45 publications

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“…This has enabled early disease management to prevent vision loss and slow cognitive decline. Integrating PRS testing into a clinical setting to screen for neurodegenerative disease is viewed as a cost-effective approach to reduce the economic burden associated with the disease (Hollitt et al, 2022).…”

Section: Diagnostics and Biomarkersmentioning

confidence: 99%

The future is precision medicine-guided diagnoses, preventions and treatments for neurodegenerative diseases

Rossi¹,

Subramanian²,

Bovenkamp³

2023

Front. Aging Neurosci.

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Section: Diagnostics and Biomarkersmentioning

confidence: 99%

The future is precision medicine-guided diagnoses, preventions and treatments for neurodegenerative diseases

Rossi¹,

Subramanian²,

Bovenkamp³

2023

Front. Aging Neurosci.

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Screening Strategies and Methodologies

Founti,

Stuart,

Nolan

et al. 2024

Journal of Glaucoma

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Précis: While glaucoma is a leading cause of irreversible vision loss, it presents technical challenges in the design and implementation of screening. New technologies such as PRS and AI offer potential improvements in our ability to identify people at high risk of sight loss from glaucoma and may improve the viability of screening for this important disease. Purpose: To review the current evidence and concepts around screening for glaucoma. Methods/Results: A group of glaucoma-focused clinician scientists drew on knowledge and experience around glaucoma, its etiology, and the options for screening. Glaucoma is a chronic progressive optic neuropathy affecting around 76 million individuals worldwide and is the leading cause of irreversible blindness globally. Early stages of the disease are asymptomatic meaning a substantial proportion of cases remain undiagnosed. Early detection and timely intervention reduce the risk of glaucoma-related visual morbidity. However, imperfect tests and a relatively low prevalence currently limit the viability of population-based screening approaches. The diagnostic yield of opportunistic screening strategies, relying on the identification of disease during unrelated health care encounters, such as cataract clinics and diabetic retinopathy screening programs, focusing on older people and/or those with a family history, are hindered by a large number of false-positive and false-negative results. Polygenic risk scores (PRS) offer personalized risk assessment for adult-onset glaucoma. In addition, artificial intelligence (AI) algorithms have shown impressive performance, comparable to expert humans, in discriminating between potentially glaucomatous and non-glaucomatous eyes. These emerging technologies may offer a meaningful improvement in diagnostic yield in glaucoma screening. Conclusions: While glaucoma is a leading cause of irreversible vision loss, it presents technical challenges in the design and implementation of screening. New technologies such as PRS and AI offer potential improvements in our ability to identify people at high risk of sight loss from glaucoma and may improve the viability of screening for this important disease.

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Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening

Hollitt,

Hassall,

Siggs

et al. 2024

Preprint

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Background: Polygenic risk scores (PRS), which provide an individual probabilistic estimate of genetic susceptibility to develop a disease, have shown effective risk stratification for glaucoma onset. However, there is limited best practice evidence for reporting PRS and patient-friendly reports for communicating effectively PRS are lacking. Here we developed patient-centred PRS reports for glaucoma screening based on the literature and evaluated them with participants using a qualitative research approach. Methods: We first reviewed existing PRS reports and literature on probabilistic risk communication. This informed the development of a draft glaucoma screening PRS report for a hypothetical high risk individual from the general population. We designed three versions of the report to illustrate risk using a pictograph, a pie chart and a bell curve. We then conducted semi-structured interviews to assess preference of visual risk communication aids, understanding of risk, content, format and structure of the reports. Participants were invited from an existing study, which aims to evaluate the clinical validity of glaucoma among individuals >50 years from the general population. Numeracy and literacy levels were assessed. Results: We interviewed 12 individuals (50% female, 42% university education). Numeracy (mean 2.1+/-0.9, range 0-3), graph literacy (mean 2.8+/-0.8, range 0-4) and genetic literacy (mean 24.2+/-6.2, range -20-+46) showed a range of levels. We analysed the reports under three main themes: visual preferences, understanding risk and reports formatting. The visual component was deemed important to understanding risk, with the pictograph being the preferred visual risk representation, followed by the pie chart and the bell curve. Participants expressed preference for absolute risk in understanding risk, along with the written content explaining the results. The importance of follow-up recommendations and time to glaucoma onset were highlighted. Participants expressed varied opinions in the level of information and the colours used, which informed revisions of the report. Conclusions: Our study revealed preferences for reporting PRS information in the context of glaucoma screening, to support the development of clinical PRS reporting. Further research is needed to assess PRS communication in other contexts and with other target audiences (e.g. referring clinicians), and its potential psychosocial impact in the wider community.

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Attitudes Toward Glaucoma Genetic Risk Assessment in Unaffected Individuals

Cited by 5 publications

References 45 publications

The future is precision medicine-guided diagnoses, preventions and treatments for neurodegenerative diseases

The future is precision medicine-guided diagnoses, preventions and treatments for neurodegenerative diseases

Screening Strategies and Methodologies

Development and evaluation of patient-centred polygenic risk score reports for glaucoma screening

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