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Uptake of Polygenic Risk Testing for Glaucoma in Unaffected Individuals.

Georgina L Hollitt1, Sarah Cohen-Woods2,3,4, Owen M Siggs1,5

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Glaucoma polygenic risk score testing shows 49% uptake in eligible individuals. A family history, urban residency, higher education, and seeking more information predicted uptake in this first study of its kind.

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Area of Science:

  • Ophthalmology
  • Genetics
  • Public Health

Background:

  • Polygenic risk scores (PRS) are emerging tools for glaucoma risk stratification.
  • Previous research indicated public acceptability of hypothetical glaucoma PRS testing.
  • The actual uptake and predictors of glaucoma PRS testing remain unexamined.

Purpose of the Study:

  • To assess the uptake rate of polygenic testing for glaucoma in an eligible population.
  • To identify predictors associated with the uptake of glaucoma polygenic testing.

Main Methods:

  • Prospective study inviting individuals aged 50+ from South Australia who previously completed a questionnaire on polygenic testing attitudes.
  • Uptake was determined by consent to the research project and provision of a sample for polygenic testing.
  • Multivariable logistic regression analyzed predictors of uptake.

Main Results:

  • An uptake rate of 49.0% was observed among 143 enrolled participants out of 292 eligible individuals.
  • Positive predictors for uptake included family history of glaucoma (P < 0.001), urban residency (P = 0.004), higher education (P = 0.036), and obtaining more information (P = 0.027).
  • Interest in testing was not significantly associated with participation (P = 0.61).

Conclusions:

  • This study is the first to report the potential uptake of polygenic testing for glaucoma in an unaffected population.
  • Findings highlight key factors influencing the uptake of glaucoma PRS testing.
  • Insights support the effective clinical implementation of glaucoma polygenic risk scores.