Short-term psychosocial outcomes following disclosure of glaucoma polygenic risk score, INSiGHT Study

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Abstract
Early glaucoma detection and treatment are critical to prevent irreversible blindness. Glaucoma polygenic risk scores (PRS) offer an effective approach for stratifying disease risk and are increasingly available in clinical practice. However, the psychosocial impact of receiving glaucoma PRS results is currently unknown. As such, this study investigated short-term psychosocial outcomes of disclosing glaucoma PRS to individuals over 50 years from the general population. Individuals from the bottom 10%, middle 45-55%, and top 10% of PRS scores were invited to receive their results and complete surveys before and 2 weeks after receiving results to assess anxiety, test-related distress, decisional regret, recall and understanding. Of invited participants, 51.7% (136/263) enrolled with 133 completing both surveys. Two weeks after disclosure, PRS recall was high (78.2%), although PRS knowledge remained limited. Privacy concerns were moderate, not differing across PRS groups ( Χ 2 = 4.17, p = .124). Small reductions in glaucoma-related anxiety ( z = –2.93, p = .003), generalised anxiety ( z = −3.75, p < .001) and stress ( z = −2.49, p = .013) were observed following disclosure. While scores remained within normal ranges, higher glaucoma-related anxiety ( t = –2.36, p = .020), higher negative emotions ( Χ 2 = 20.80, p < .001), and lower positive experience ( F = 5.70, p = .004) were seen for high-risk participants compared to lower-risk participants. Decisional regret was low and didn’t differ across PRS groups ( Χ 2 = 0.28, p = .869). These findings support the psychosocial safety of glaucoma PRS testing while highlighting the need for improved education and longer-term follow-up to support clinical implementation.
Funding Information
  • BrightFocus National Glaucoma Research grant (Early-career fellowship (2022-2024, approval number: G2022002F))
  • National Health and Medical Research Council (NHMRC Investigator grant 2023-2027, approval number: GNT2016545))
  • Flinders University (College of Education, Psychology, and Social Work seed grant scheme)

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