Genetic testing of patients with inherited retinal diseases in the European countries: an international survey by the European Vision Institute
File(s)
Published version
Author(s)
Calzetti, Giacomo
Schwarzwälder, Kerstin
Ottonelli, Giorgia
Kaminska, Karolina
Strauss, Rupert Wolfgang
Type
Journal Article
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.
Date Issued
2024-12-01
Date Acceptance
2024-07-19
Citation
Ophthalmic Research: journal for research in experimental and clinical ophthalmology, 2024, 67 (1), pp.448-457
ISSN
0030-3747
Publisher
Karger Publishers
Start Page
448
End Page
457
Journal / Book Title
Ophthalmic Research: journal for research in experimental and clinical ophthalmology
Volume
67
Issue
1
Copyright Statement
© 2024 The Author(s). Published by S. Karger AG, Basel. This article is licensed under the Creative Commons AttributionNonCommercial 4.0 International License (CC BY-NC) (http://www. karger.com/Services/OpenAccessLicense). Usage and distributionfor commercial purposes requires written permission.
License URL
Identifier
https://www.ncbi.nlm.nih.gov/pubmed/39079514
PII: 000540607
Subjects
Cost
Europe
Genetic counseling
Genetic testing
Inherited retinal disease
Inherited retinal diseases
Inherited retinal dystrophy
Survey
Humans
Europe
Genetic Counseling
Genetic Testing
Retinal Diseases
Surveys and Questionnaires
Publication Status
Published
Coverage Spatial
Switzerland
Date Publish Online
2024-07-30