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
{"title":"Genetic Testing of Patients with Inherited Retinal Diseases in the European Countries: An International Survey by the European Vision Institute.","authors":"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","doi":"10.1159/000540607","DOIUrl":null,"url":null,"abstract":"<p><strong>Introduction: </strong>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.</p><p><strong>Methods: </strong>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.</p><p><strong>Results: </strong>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.</p><p><strong>Conclusion: </strong>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.</p>","PeriodicalId":19662,"journal":{"name":"Ophthalmic Research","volume":null,"pages":null},"PeriodicalIF":2.0000,"publicationDate":"2024-01-01","publicationTypes":"Journal Article","fieldsOfStudy":null,"isOpenAccess":false,"openAccessPdf":"","citationCount":"0","resultStr":null,"platform":"Semanticscholar","paperid":null,"PeriodicalName":"Ophthalmic Research","FirstCategoryId":"3","ListUrlMain":"https://doi.org/10.1159/000540607","RegionNum":4,"RegionCategory":"医学","ArticlePicture":[],"TitleCN":null,"AbstractTextCN":null,"PMCID":null,"EPubDate":"2024/7/30 0:00:00","PubModel":"Epub","JCR":"Q2","JCRName":"OPHTHALMOLOGY","Score":null,"Total":0}
引用次数: 0
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.
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.