[Whole-exome sequencing in patients with neurological disorders]

Colaci C, Ciapponi A, Argento F, Alfie V, Bardach A, García Martí S, Augustovski F, Alcaraz A, Pichon-Riviere, A
Record ID 32018002329
Original Title: Secuenciación de exoma completo en pacientes con trastornos neurológicos no diagnosticados
Authors' recommendations: Low-quality evidence suggests that the use of whole-exome sequencing in patients with undiagnosed neurological disorders might yield a higher diagnostic performance when compared with standard genetic testing. This would allow to introduce changes in treatment and referrals to specialists. However, its impact on health after diagnosis is, so far, unknown. The studies include patients with different neurological disorders, thus resulting in a wide heterogeneity. Whole-exome sequencing in daily clinical practice also shows some potential negative effects, not assessed so far, and ethical dilemmas related to incidental findings in the analysis of genetic material from patients. There is no consensus in the clinical practice guidelines consulted on recommendations for its use. None of the health funders consulted covers it. The economic evaluations on the use of this technology were carried out assuming hypothetical scenarios; consequently, its cost-effectiveness is uncertain. No information about its cost-effectiveness is available in Argentina.
Project Status: Completed
Year Published: 2021
English language abstract: An English language summary is available
Publication Type: Not Assigned
Country: Argentina
MeSH Terms
  • Exome Sequencing
  • Diagnostic Techniques, Neurological
  • Diagnostic Tests, Routine
  • Nervous System 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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