Assessing awareness toward genetic testing among patients with inherited retinal dystrophy in Japan

Abstract Purpose To conduct a nationwide questionnaire survey among patients with inherited retinal dystrophy (IRD) with the aim of investigating the percentage of patients requesting or not requesting genetic testing and clarifying the reasons underlying these preferences. Study design A questionnaire-based cross-sectional study. Methods This study conducted a questionnaire survey targeting IRD patients aged 18 years or older. Participants were recruited from members of the Japanese Retinitis Pigmentosa Society, a patient advocacy organization for individuals with retinitis pigmentosa and other IRDs, and collaborating research institutions. The study announcement was also posted on the website of the Department of Ophthalmology, Faculty of Medicine, University of Miyazaki. Responses were collected in print, e-mail, and online formats between October 1, 2023 and March 31, 2025. The resulting data were statistically analyzed using simple tabulation and a logistic regression analysis. Results A total of 153 valid responses were obtained. The survey revealed that 86.3% of IRD patients requested genetic testing and the main reasons were personal motivation, such as: To identify the cause of the disease (84.8%), followed by: To obtain information for my future treatment, and :To obtain information regarding my future prognosis (both 81.8%). Conversely, the most common reason for not requesting the test was Genetic testing is pointless because there is no treatment (52.4%). Genetic testing was more likely to be requested by participants with greater knowledge of related terms. Among the 49 participants who had previously participated in gene analysis research, the explanation for the most frequent reason for satisfaction with the result was: The implications for children, grandchildren, and family members were clarified (73.7%), while the most frequent reason for dissatisfaction was: The diagnosis was not finalized (60.0%). Conclusion The present results indicate that the majority of patients possess a high level of interest and a positive attitude toward genetic testing. It is crucial to properly convey the significance of genetic testing and related information to patients, which will enable more patients to approach genetic testing positively and achieve a high level of satisfaction.