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Secuenciación de exoma completo para pacientes con discapacidad intelectual/retraso mental o TEA [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 |
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Record Status This is a bibliographic record of a published health technology assessment from a member of INAHTA. No evaluation of the quality of this assessment has been made for the HTA database. Citation Pichon Riviere A, Augustovski F, Garcia Marti S, Alcaraz A, Glujovsky D, Lopez A, Rey-Ares L, Bardach A, Ciapponi A, Soto N. Secuenciación de exoma completo para pacientes con discapacidad intelectual/retraso mental o TEA. [Whole exome sequencing for patients with intellectual disability/mental retardation or ASD] Buenos Aires: Institute for Clinical Effectiveness and Health Policy (IECS). Informe de Respuesta Rápida N° 320. 2013 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' conclusions 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. Indexing Status Subject indexing assigned by CRD MeSH DNA Mutational Analysis; Disability Evaluation; Disabled Personss; Intellectual Disability Language Published Spanish Country of organisation Argentina English summary An English language summary is available. Address for correspondence Institute for Clinical Effectiveness and Health Policy, Viamonte 2146 - 3 Piso, C1056ABH Ciudad de Buenos Aires, Argentina Tel: +54 11 49 66 00 82 Fax:+54 11 49 53 40 58 Email: info@iecs.org.ar AccessionNumber 32014000241 Date abstract record published 28/01/2014 |
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