[Whole exome sequencing in patients with intellectual disability and/or autism spectrum disorder]

Colaci C, García Martí S, Argento F, Alfie V, Bardach A, Ciapponi A, Augustovski F, Alcaraz A, Pichon-Riviere A
Record ID 32018002332
Original Title: Secuenciación de exoma completo en pacientes con discapacidad intelectual y/o trastorno del espectro autista
Authors' recomendations: Low-quality evidence suggests that the use of whole exome sequencing in patients with intellectual disability and/or autism spectrum disorders might yield a better diagnostic performance when compared with standard genetic testing. This would allow to introduce changes to the patient’s treatment and/or medical management. However, to date its impact on health at short and mid-term after diagnosis is unknown; therefore its clinical benefit is uncertain. Also, its use in daily clinical practice poses potential negative effects which have not been assessed yet; and also ethical dilemmas related to incidental findings when analyzing the genetic material of patients.The clinical practice guidelines consulted, do not mention using whole exome sequencing as part of the diagnostic algorithm for these conditions. None of the health funders consulted includes it in their list of covered technologies, except for Brazil where the use of WES is suggested in the diagnostic algorithm only in patients with intellectual disability. In Argentina, this technology is not included in the Mandatory Medical Program (Programa Médico Obligatorio).The economic evaluations surveyed show that the use of this technology might mean saving costs in unnecessary diagnostic tests. Despite the results, it is to note that these studies were carried out on a small population, assuming hypothetical scenarios; consequently, its cost-effectiveness might be defined as uncertain for Argentina.
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
  • Intellectual Disability
  • Autism Spectrum Disorder
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)
This is a bibliographic record of a published health technology assessment from a member of INAHTA or other HTA producer. No evaluation of the quality of this assessment has been made for the HTA database.