Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.

IF 2 4区 医学 Q2 OPHTHALMOLOGY Ophthalmic Research Pub Date : 2024-01-01 Epub Date: 2024-07-30 DOI:10.1159/000540607
Giacomo Calzetti, Kerstin Schwarzwälder, Giorgia Ottonelli, Karolina Kaminska, Rupert Wolfgang Strauss, Elfride De Baere, Bart P Leroy, Isabelle Audo, Christina Zeitz, Claus Cursiefen, Katarina Stingl, Camiel J F Boon, João Pedro Marques, Cristina Santos, Carmen Ayuso Garcia, Pascal Escher, M Francesca Cordeiro, Fabiana D'Esposito, Peter Charbel Issa, Andrew Lotery, Siying Lin, Michel Michaelides, Carlo Rivolta, Hendrik P N Scholl
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Abstract

Introduction: The purpose of this project was to explore the current standards of clinical care genetic testing and counseling for patients with inherited retinal diseases (IRDs) from the perspective of leading experts in selected European countries. Also, to gather opinions on current bottlenecks and future solutions to improve patient care.

Methods: On the initiative of the European Vision Institute, a survey questionnaire with 41 questions was designed and sent to experts in the field from ten European countries. Each participant was asked to answer with reference to the situation in their own country.

Results: Sixteen questionnaires were collected by November 2023. IRD genetic tests are performed in clinical care settings for 80% or more of tested patients in 9 countries, and the costs of genetic tests in clinical care are covered by the public health service to the extent of 90% or more in 8 countries. The median proportion of patients who are genetically tested, the median rate of genetically solved patients among those who are tested, and the median proportion of patients receiving counseling are 51-70%, 61-80%, and 61-80%, respectively. Improving the education of healthcare professionals who facilitate patient referrals to specialized centers, improving access of patients to more thorough genotyping, and increasing the number of available counselors were the most advocated solutions.

Conclusion: There is a significant proportion of IRD patients who are not genetically tested, whose genetic testing is inconclusive, or who do not receive counseling. Educational programs, greater availability of state-of-the-art genotyping and genetic counselors could improve healthcare for IRD patients.

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欧洲国家对遗传性视网膜疾病患者的基因检测。欧洲视觉研究所的一项国际调查。
导言:本项目旨在从部分欧洲国家主要专家的角度,探讨遗传性视网膜疾病(IRDs)患者临床护理基因检测和咨询的现行标准。同时,收集有关当前瓶颈和未来解决方案的意见,以改善患者护理:在欧洲视觉研究所的倡议下,我们设计了一份包含 41 个问题的调查问卷,并发送给了来自 10 个欧洲国家的该领域专家。要求每位参与者结合本国的情况进行回答:截至 2023 年 11 月,共收集到 16 份调查问卷。在 9 个国家中,80% 或更多接受检测的患者在临床医疗机构接受了 IRD 基因检测;在 8 个国家中,90% 或更多接受检测的患者在临床医疗机构接受了 IRD 基因检测;在 8 个国家中,90% 或更多接受检测的患者在临床医疗机构接受了 IRD 基因检测。接受基因检测的患者比例中位数、接受检测的患者中已解决基因问题的患者比例中位数以及接受咨询的患者比例中位数分别为 51%-70%、61%-80% 和 61%-80%。最受欢迎的解决方案包括:加强对医护专业人员的教育,使他们能够帮助患者转诊到专业中心;让患者有更多机会获得更全面的基因分型;以及增加咨询师的数量:结论:有相当一部分 IRD 患者没有接受基因检测、基因检测结果不确定或没有接受咨询。教育计划、更多最先进的基因分型技术和遗传咨询师可以改善 IRD 患者的医疗保健。
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来源期刊
Ophthalmic Research
Ophthalmic Research 医学-眼科学
CiteScore
3.80
自引率
4.80%
发文量
75
审稿时长
6-12 weeks
期刊介绍: ''Ophthalmic Research'' features original papers and reviews reporting on translational and clinical studies. Authors from throughout the world cover research topics on every field in connection with physical, physiologic, pharmacological, biochemical and molecular biological aspects of ophthalmology. This journal also aims to provide a record of international clinical research for both researchers and clinicians in ophthalmology. Finally, the transfer of information from fundamental research to clinical research and clinical practice is particularly welcome.
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