Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE
Por:
Papadopoulou MT, Muccioli L, Bisulli F, Klotz KA, Fons-Estupina C, Trivisano M, Kabulashvili T, Specchio N, Lesca G and Arzimanoglou A
Publicada:
1 jun 2024
Ahead of Print:
1 mar 2024
Resumen:
Objective: The increasingly rapid pace of advancement in genetic testing may lead to inequalities in technical and human resources with a negative impact on optimal epilepsy clinical practice. In this view, the European Reference Network (ERN) for Rare and Complex Epilepsies EpiCARE conducted a survey addressing several aspects of accessibility, availability, costs, and standard practices on genetic testing across ERN EpiCARE centers. Methods: An online Google form was sent to 70 representatives of ERN EpiCARE centers. Descriptive statistics and qualitative analysis were used for data presentation. Results: We received 45 responses (1/center) representing 23 European countries with a better representation of Western Europe. Forty-five percent of the centers did not have access to all available types of genetic testing, mainly reflecting the limited availability of whole-genome sequencing (WGS). Thirty-five percent of centers report cost coverage only for some of the available tests, while costs per test varied significantly (interquartile range IQR ranging from 150 to 1173 euros per test across centers). Urgent genetic testing is available in 71.7% of countries (time-to-urgent result: 2 day to 2 months). The average time-to-result of specific tests in case of non-urgent prescription has a significant variance across centers, with the biggest range observed for whole-exome sequencing (6-128 weeks, IQR: 27 weeks). The percentage of agreement among the experts regarding the choice of genetic test at first intention in specific clinical situations was in all cases less than 50 percent (34.9% to 47% according to the proposed scenarios). Significance: Costs, time to deliver the results to the clinician, and type of first-line genetic testing vary widely across Europe, even in countries where ERN EpiCARE centers are present. Increased availability of genetic tests and guidance for optimal test choices in epilepsy remains essential to avoid diagnostic delays and excess health costs. Plain Language Summary: The survey of the ERN EpiCARE highlights disparities in genetic testing for epilepsy across 45 ERN EpiCARE centers in 23 European countries. The findings reveal variable access to certain genetic tests, with lowest access to WGS. Costs and time-to-results vary widely. Urgent genetic testing is available in 71.7% of countries. Agreement among experts on first-line genetic tests for specific patient scenarios is below 50%. The study emphasizes the need for improved test availability and guidance to avoid diagnostic delays and unnecessary costs. EpiCARE has the mission to contribute in homogenizing best practices across Europe.
Filiaciones:
Papadopoulou MT:
Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, Lyon, France
Muccioli L:
IRCCS Istituto Delle Scienze Neurologiche di Bologna, Member of the ERN EpiCARE, Bologna, Italy
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
Bisulli F:
IRCCS Istituto Delle Scienze Neurologiche di Bologna, Member of the ERN EpiCARE, Bologna, Italy
Department of Biomedical and Neuromotor Sciences, University of Bologna, Bologna, Italy
Klotz KA:
Department of Neuropediatrics, University Hospital of Bonn, Member of the ERN EpiCARE, Bonn, Germany
Fons-Estupina C:
Unit for Epilepsy and Neurophysiology, Department of Pediatric Neurology, Sant Joan De Déu Children's Hospital, Member of the ERN EpiCARE, Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain
Trivisano M:
Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Member of the ERN EpiCARE, Rome, Italy
Kabulashvili T:
Department of Neurology, Christian Doppler University Hospital, Paracelsus Medical University, Member of the ERN EpiCARE, Salzburg, Austria
Specchio N:
Rare and Complex Epilepsy Unit, Department of Neuroscience, Bambino Gesù Children's Hospital, IRCCS, Member of the ERN EpiCARE, Rome, Italy
Lesca G:
Department of Medical Genetics, University Hospitals of Lyon (HCL), Member of the ERN EpiCARE, Lyon, France
Arzimanoglou A:
Department of Paediatric Clinical Epileptology, Sleep Disorders and Functional Neurology, University Hospitals of Lyon (HCL), Member of the European Reference Network (ERN) EpiCARE, Lyon, France
Unit for Epilepsy and Neurophysiology, Department of Pediatric Neurology, Sant Joan De Déu Children's Hospital, Member of the ERN EpiCARE, Institut de Recerca Sant Joan de Déu, University of Barcelona, Barcelona, Spain
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