Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE
Article Swipe
Maria Papadopoulou
,
Lorenzo Muccioli
,
Francesca Bisulli
,
Kerstin Alexandra Klotz
,
Carmen Fons
,
Marina Trivisano
,
Teia Kabulashvili
,
Nicola Specchio
,
Gaëtan Lesca
,
Alexis Arzimanoglou
·
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/epi4.12930
YOU?
·
· 2024
· Open Access
·
· DOI: https://doi.org/10.1002/epi4.12930
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.
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Metadata
- Type
- article
- Language
- en
- Landing Page
- https://doi.org/10.1002/epi4.12930
- https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi4.12930
- OA Status
- gold
- Cited By
- 8
- References
- 25
- Related Works
- 10
- OpenAlex ID
- https://openalex.org/W4393069566
All OpenAlex metadata
Raw OpenAlex JSON
- OpenAlex ID
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https://openalex.org/W4393069566Canonical identifier for this work in OpenAlex
- DOI
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https://doi.org/10.1002/epi4.12930Digital Object Identifier
- Title
-
Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network
EpiCARE Work title - Type
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articleOpenAlex work type
- Language
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enPrimary language
- Publication year
-
2024Year of publication
- Publication date
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2024-03-22Full publication date if available
- Authors
-
Maria Papadopoulou, Lorenzo Muccioli, Francesca Bisulli, Kerstin Alexandra Klotz, Carmen Fons, Marina Trivisano, Teia Kabulashvili, Nicola Specchio, Gaëtan Lesca, Alexis ArzimanoglouList of authors in order
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https://doi.org/10.1002/epi4.12930Publisher landing page
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi4.12930Direct link to full text PDF
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YesWhether a free full text is available
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goldOpen access status per OpenAlex
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https://onlinelibrary.wiley.com/doi/pdfdirect/10.1002/epi4.12930Direct OA link when available
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Epilepsy, Genetic testing, Psychology, Computer science, Business, Biology, Genetics, PsychiatryTop concepts (fields/topics) attached by OpenAlex
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8Total citation count in OpenAlex
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2025: 7, 2024: 1Per-year citation counts (last 5 years)
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25Number of works referenced by this work
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10Other works algorithmically related by OpenAlex
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| abstract_inverted_index.150 | 154 |
| abstract_inverted_index.47% | 238 |
| abstract_inverted_index.ERN | 60, 74, 268, 303, 314 |
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| abstract_inverted_index.The | 2, 178, 208, 299, 321, 363 |
| abstract_inverted_index.all | 114, 230 |
| abstract_inverted_index.and | 17, 39, 53, 79, 254, 278, 292, 336, 372, 378 |
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| abstract_inverted_index.day | 174 |
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| abstract_inverted_index.for | 37, 84, 137, 200, 280, 310, 356, 368 |
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| abstract_inverted_index.may | 11 |
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| abstract_inverted_index.per | 145, 158 |
| abstract_inverted_index.the | 32, 107, 122, 140, 196, 213, 216, 241, 249, 252, 302, 366, 383 |
| abstract_inverted_index.was | 68, 228 |
| abstract_inverted_index.1173 | 156 |
| abstract_inverted_index.50%. | 362 |
| abstract_inverted_index.IQR: | 205 |
| abstract_inverted_index.Rare | 38 |
| abstract_inverted_index.WGS. | 334 |
| abstract_inverted_index.best | 389 |
| abstract_inverted_index.case | 185 |
| abstract_inverted_index.cost | 134 |
| abstract_inverted_index.data | 85 |
| abstract_inverted_index.even | 264 |
| abstract_inverted_index.form | 67 |
| abstract_inverted_index.from | 153 |
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| abstract_inverted_index.lead | 12 |
| abstract_inverted_index.less | 232 |
| abstract_inverted_index.need | 367 |
| abstract_inverted_index.only | 136 |
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| abstract_inverted_index.some | 138 |
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| abstract_inverted_index.this | 30 |
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| abstract_inverted_index.type | 255 |
| abstract_inverted_index.used | 83 |
| abstract_inverted_index.vary | 260, 338 |
| abstract_inverted_index.were | 82 |
| abstract_inverted_index.with | 20, 97, 195, 330 |
| abstract_inverted_index.(ERN) | 36 |
| abstract_inverted_index.71.7% | 168, 346 |
| abstract_inverted_index.Costs | 335 |
| abstract_inverted_index.Plain | 296 |
| abstract_inverted_index.among | 212, 350 |
| abstract_inverted_index.avoid | 289, 375 |
| abstract_inverted_index.below | 361 |
| abstract_inverted_index.cases | 231 |
| abstract_inverted_index.costs | 144 |
| abstract_inverted_index.euros | 157 |
| abstract_inverted_index.first | 222 |
| abstract_inverted_index.human | 18 |
| abstract_inverted_index.range | 150, 198 |
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| abstract_inverted_index.view, | 31 |
| abstract_inverted_index.where | 267 |
| abstract_inverted_index.while | 143 |
| abstract_inverted_index.(34.9% | 236 |
| abstract_inverted_index.(WGS). | 128 |
| abstract_inverted_index.Costs, | 245 |
| abstract_inverted_index.Google | 66 |
| abstract_inverted_index.Urgent | 162, 340 |
| abstract_inverted_index.access | 112, 325, 332 |
| abstract_inverted_index.across | 59, 160, 193, 262, 312, 391 |
| abstract_inverted_index.better | 99 |
| abstract_inverted_index.choice | 217 |
| abstract_inverted_index.costs, | 52 |
| abstract_inverted_index.costs. | 295, 380 |
| abstract_inverted_index.delays | 291, 377 |
| abstract_inverted_index.excess | 293 |
| abstract_inverted_index.health | 294 |
| abstract_inverted_index.impact | 23 |
| abstract_inverted_index.lowest | 331 |
| abstract_inverted_index.mainly | 120 |
| abstract_inverted_index.online | 65 |
| abstract_inverted_index.report | 133 |
| abstract_inverted_index.reveal | 323 |
| abstract_inverted_index.survey | 45, 300 |
| abstract_inverted_index.tests, | 142, 329 |
| abstract_inverted_index.varied | 147 |
| abstract_inverted_index.weeks, | 204 |
| abstract_inverted_index.widely | 261 |
| abstract_inverted_index.Complex | 40 |
| abstract_inverted_index.EpiCARE | 42, 61, 75, 269, 304, 315, 381 |
| abstract_inverted_index.Europe, | 263 |
| abstract_inverted_index.Europe. | 103, 392 |
| abstract_inverted_index.Methods | 63 |
| abstract_inverted_index.Network | 35 |
| abstract_inverted_index.Results | 87 |
| abstract_inverted_index.Summary | 298 |
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| abstract_inverted_index.aspects | 48 |
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| abstract_inverted_index.biggest | 197 |
| abstract_inverted_index.centers | 108, 132, 270, 316 |
| abstract_inverted_index.certain | 327 |
| abstract_inverted_index.choices | 283 |
| abstract_inverted_index.deliver | 248 |
| abstract_inverted_index.experts | 214, 351 |
| abstract_inverted_index.genetic | 9, 57, 118, 163, 219, 258, 276, 308, 328, 341, 354 |
| abstract_inverted_index.limited | 123 |
| abstract_inverted_index.mission | 384 |
| abstract_inverted_index.optimal | 25, 281 |
| abstract_inverted_index.patient | 358 |
| abstract_inverted_index.percent | 105, 130, 235 |
| abstract_inverted_index.ranging | 152 |
| abstract_inverted_index.remains | 286 |
| abstract_inverted_index.result: | 172 |
| abstract_inverted_index.results | 250 |
| abstract_inverted_index.several | 47 |
| abstract_inverted_index.testing | 10, 58, 164, 259, 309, 342 |
| abstract_inverted_index.weeks). | 207 |
| abstract_inverted_index.widely. | 339 |
| abstract_inverted_index.(6–128 | 203 |
| abstract_inverted_index.Abstract | 0 |
| abstract_inverted_index.European | 33, 95, 319 |
| abstract_inverted_index.Language | 297 |
| abstract_inverted_index.analysis | 81 |
| abstract_inverted_index.centers, | 194 |
| abstract_inverted_index.centers. | 62, 76 |
| abstract_inverted_index.clinical | 27, 226 |
| abstract_inverted_index.coverage | 135 |
| abstract_inverted_index.epilepsy | 26, 285, 311 |
| abstract_inverted_index.findings | 322 |
| abstract_inverted_index.guidance | 279, 373 |
| abstract_inverted_index.improved | 369 |
| abstract_inverted_index.months). | 177 |
| abstract_inverted_index.negative | 22 |
| abstract_inverted_index.observed | 199 |
| abstract_inverted_index.present. | 272 |
| abstract_inverted_index.proposed | 242 |
| abstract_inverted_index.received | 89 |
| abstract_inverted_index.specific | 182, 225, 357 |
| abstract_inverted_index.standard | 54 |
| abstract_inverted_index.testing, | 119 |
| abstract_inverted_index.variable | 324 |
| abstract_inverted_index.variance | 192 |
| abstract_inverted_index.Agreement | 349 |
| abstract_inverted_index.Increased | 273 |
| abstract_inverted_index.Objective | 1 |
| abstract_inverted_index.Reference | 34 |
| abstract_inverted_index.according | 239 |
| abstract_inverted_index.agreement | 211 |
| abstract_inverted_index.available | 115, 141, 166, 344 |
| abstract_inverted_index.centers). | 161 |
| abstract_inverted_index.conducted | 43 |
| abstract_inverted_index.countries | 96, 170, 266 |
| abstract_inverted_index.essential | 287 |
| abstract_inverted_index.intention | 223 |
| abstract_inverted_index.practice. | 28 |
| abstract_inverted_index.practices | 55, 390 |
| abstract_inverted_index.regarding | 215 |
| abstract_inverted_index.resources | 19 |
| abstract_inverted_index.responses | 91 |
| abstract_inverted_index.scenarios | 359 |
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| abstract_inverted_index.(1/center) | 92 |
| abstract_inverted_index.Epilepsies | 41 |
| abstract_inverted_index.addressing | 46 |
| abstract_inverted_index.clinician, | 253 |
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| abstract_inverted_index.countries. | 320, 348 |
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| abstract_inverted_index.emphasizes | 365 |
| abstract_inverted_index.highlights | 305 |
| abstract_inverted_index.percentage | 209 |
| abstract_inverted_index.reflecting | 121 |
| abstract_inverted_index.sequencing | 127, 202 |
| abstract_inverted_index.situations | 227 |
| abstract_inverted_index.statistics | 78 |
| abstract_inverted_index.Descriptive | 77 |
| abstract_inverted_index.advancement | 7 |
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| abstract_inverted_index.qualitative | 80 |
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| abstract_inverted_index.presentation. | 86 |
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| institutions_distinct_count | 10 |
| corresponding_institution_ids | https://openalex.org/I4210100596 |
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