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Accessibility, availability and common practices regarding genetic testing for epilepsy across Europe: A survey of the European Reference Network EpiCARE.

Maria T PapadopoulouFrancesca BisulliFrancesca BisulliKerstin Alexandra KlotzCarmen FonsMarina TrivisanoTeia KabulashviliNicola SpecchioGaëtan LescaAlexis A Arzimanoglou
Published in: Epilepsia open (2024)
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.
Keyphrases
  • genome wide
  • primary care
  • healthcare
  • climate change
  • copy number
  • case report
  • cross sectional
  • gene expression
  • temporal lobe epilepsy