Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals

Polygenic risk score for glaucoma is an emerging tool showing effective risk stratification. Previous studies have shown public acceptability for the test as a hypothetical scenario. However, the potential uptake of the test and associated predictors has not been reported.

Individuals who had previously participated in a questionnaire-based study evaluating attitudes toward polygenic testing for glaucoma were invited to participate in a prospective research study for which they will undergo polygenic testing for glaucoma. Individuals had to be over the age of 50 years and living in South Australia to be eligible and invited to participate. Uptake was assessed by decision to consent to the research project and provide a sample for polygenic testing. Multivariable logistic regression was performed to identify predictor variables associated with uptake.

Of the 418 individuals who completed the initial questionnaire, 292 were eligible to participate, of which 143 enrolled, yielding an uptake rate of 49.0%. The mean age of the enrolled cohort was 67.5 years, 67.1% were female, 83.2% were from an urban residency, and 58.7% had a family history of glaucoma. Interest in testing was not associated with participation (P = 0.61). Predictors of uptake included a positive family history (P < 0.001) urban residency (P = 0.004), higher education (P = 0.036), and obtaining more information (P = 0.027).

This is the first study to demonstrate the potential uptake of polygenic testing for glaucoma among an unaffected population.

These findings provide useful insights into the predictors of glaucoma polygenic testing to support effective clinical implementation.