Attitudes to genetic testing and reproductive interventions among patients with inherited retinal disease in Singapore

This study assesses the understanding and attitudes of patients with inherited retinal disease (IRD) towards genetic testing and its application towards reproductive interventions in Singapore. This is a previously uninvestigated group, who may benefit from increased uptake of genetic testing. In this cross-sectional study, patients were recruited via Singapore National Eye Centre (SNEC) and its satellite clinics to answer closed- and open-ended questions about their understanding and attitudes towards genetic testing. Multivariable logistic regression models assessed the adjusted associations between patients’ attitudes towards different applications of genetic testing. Thematic coding and tabulation of frequency were performed for qualitative content analysis. Of 216 participants (median age 57.5 years; 50.9% male, 85.6% Chinese), most had a favorable view of genetic testing (62.5%), and its application to reproductive interventions (preimplantation genetic testing = 56.5%; prenatal testing = 58.8%), despite variable self-reported understanding. Better self-reported understanding was positively associated with support (OR 3.24; 95% CI 1.4, 7.5; p = 0.006), financial coverage (OR 3.29; 95% CI 1.4, 7.9; p = 0.008) and universal availability (OR 4.44; 95% CI 1.8, 10.7; p < 0.001) of genetic testing for patients with IRD. Chinese ethnicity (OR 2.50; 95% CI 1.1, 5.8; p = 0.033), younger age (< 50 years; OR 2.52; 95% CI 1.3, 4.7; p = 0.004), and positive family history (OR 2.03; 95% CI 1.1, 3.8; p = 0.025) were associated with increased support of genetic testing for preimplantation genetic testing. Singaporeans with IRD expressed broad support for genetic testing and its reproductive applications. Education and tailored genetic counselling for patients with poorer levels of understanding could increase uptake and perceived utility of genetic testing.