[Whole exome sequencing in epileptic encephalopathies]

Groppo J, Augustovski F, Colaci C, Alfie V, Ciapponi A, Bardach A, Garcia Martí S, Alcaraz A, Pichon-Riviere A
Record ID 32018002334
Original Title: Secuenciación completa del exoma en encefalopatías epilépticas
Authors' recomendations: Good-quality evidence assessing the impact of whole exome sequencing in relevant outcomes in patients with epileptic encephalopathy could not be found. Low-quality evidence indicates that its diagnostic yield for this condition is estimated in 25-50%, which would allow to introduce changes in treatment and optimize referrals to specialists. No studies directly comparing whole exome sequencing with other molecular methods in patients with this condition have been found. It is worth to note that, in clinical practice, whole exome sequencing might show discrepancies in result interpretation and ethical dilemmas, just like other genetic tests, which so far have not been cleared out. There is no consensus in the clinical practice guidelines consulted on the recommendations for its use. The main US health funders include this technology in their coverage policies for this condition. The cost-effectiveness studies consulted (all of them from high-income countries) were positive although they were conducted assuming hypothetical scenarios, with no direct comparisons against other diagnostic methods. No local economic studies assessing whole exome sequencing in epileptic encephalopathy have been found. As its cost is similar to that of its comparator and since it provides certain benefit, this dimension was considered as favorable.
Project Status: Completed
Year Published: 2021
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Argentina
MeSH Terms
  • Whole Exome Sequencing
  • Genetic Testing
  • Epilepsy
  • Brain Diseases
Organisation Name: Institute for Clinical Effectiveness and Health Policy
Contact Address: Dr. Emilio Ravignani 2024, Buenos Aires - Argentina, C1414 CABA
Contact Name: info@iecs.org.ar
Contact Email: info@iecs.org.ar
Copyright: Institute for Clinical Effectiveness and Health Policy (IECS)
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