학술논문
Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey
Document Type
article
Author
Source
Scientific Reports, Vol 14, Iss 1, Pp 1-9 (2024)
Subject
Language
English
ISSN
2045-2322
Abstract
Abstract This study evaluated patient experiences with genetic testing for inherited retinal diseases (IRDs) and the association between underlying knowledge, testing outcomes, and the perceived value of the results. An online survey was distributed to adults with IRDs and parents/guardians of dependents with IRDs who had had genetic testing. Data included details of genetic testing, pre- and post- test perceptions, Decision Regret Scale, perceived value of results, and knowledge of gene therapy. Of 135 responses (85% from adults with IRDs), genetic testing was primarily conducted at no charge through public hospitals (49%) or in a research setting (30%). Key motivations for genetic testing were to confirm IRD diagnosis and to contribute towards research. Those who had received a genetic diagnosis (odds ratio: 6.71; p