Patient experiences and perceived value of genetic testing in inherited retinal diseases: a cross-sectional survey

被引:1
|
作者
Britten-Jones, Alexis Ceecee [1 ,2 ,3 ]
Schultz, Joshua [4 ]
Mack, Heather G. [2 ,3 ]
Kearns, Lisa S. [2 ,3 ]
Huq, Aamira J. [4 ,5 ]
Ruddle, Jonathan B. [2 ]
Mackey, David A. [2 ,6 ,7 ]
Hewitt, Alex W. [2 ,3 ,6 ]
Edwards, Thomas L. [2 ,3 ]
Ayton, Lauren N. [1 ,2 ,3 ]
机构
[1] Univ Melbourne, Fac Med Dent & Hlth Sci, Dept Optometry & Vis Sci, Parkville, Vic 3010, Australia
[2] Royal Victorian Eye & Ear Hosp, Ctr Eye Res Australia, Melbourne, Australia
[3] Univ Melbourne, Fac Med Dent & Hlth Sci, Dept Surg Ophthalmol, Parkville, Australia
[4] Royal Melbourne Hosp, Dept Genom Med, Parkville, Vic, Australia
[5] Univ Melbourne, Dept Med, Parkville, Vic, Australia
[6] Univ Tasmania, Menzies Inst Med Res, Sch Med, Hobart, Tas 7000, Australia
[7] Univ Western Australia, Ctr Ophthalmol & Visual Sci, Nedlands, WA 6009, Australia
基金
英国医学研究理事会;
关键词
EMPOWERMENT; ATTITUDES;
D O I
10.1038/s41598-024-56121-2
中图分类号
O [数理科学和化学]; P [天文学、地球科学]; Q [生物科学]; N [自然科学总论];
学科分类号
07 ; 0710 ; 09 ;
摘要
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 < 0.001) and those self-reported to have good knowledge of gene therapy (odds ratio: 2.69; p = 0.018) were more likely to have gained confidence in managing their clinical care. For over 80% of respondents, knowing the causative gene empowered them to learn more about their IRD and explore opportunities regarding clinical trials. Key genetic counselling information needs include resources for family communications, structured information provision, and ongoing genetic support, particularly in the context of emerging ocular therapies, to enhance consistency in information uptake.
引用
收藏
页数:9
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