[Whole exome sequencing for patients with intellectual disability/mental retardation or ASD]
Pichon Riviere A, Augustovski F, Garcia Marti S, Alcaraz A, Glujovsky D, Lopez A, Rey-Ares L, Bardach A, Ciapponi A, Soto N
Record ID 32014000241
Spanish
Authors' objectives:
To assess the available evidence on the efficacy, safety and issues related with coverage policies on the use of Whole Exome Sequencing in patients with Intellectual Disability/Mental Retardation or Autism Spectrum Disorders with negative result in genetic evaluations using other tests.
Authors' recommendations:
At present, there is scarce evidence supporting the use of WES for etiologic diagnosis in patients with ID/DD or ASD. Furthermore, the use of this technology in daily clinical practice presents negative potentially unknown effects to date as well as ethical dilemmas related to incidental findings in the analysis of genetic material in these patients.
Details
Project Status:
Completed
Year Published:
2013
URL for published report:
https://www.iecs.org.ar/home-ets/?cod_publicacion=1567&familia=5&origen_publicacion=buscador
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
Argentina
MeSH Terms
- Disability Evaluation
- Intellectual Disability
- DNA Mutational Analysis
Contact
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.