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 Larrea Bonavento N, Bardach A, Pichon-Riviere A, Augustovski F, García Martí S, Alcaraz A, Ciapponi A. [Whole exome sequencing in patients with undiagnosed neurological diseases] Buenos Aires: Institute for Clinical Effectiveness and Health Policy (IECS). Documentos de Evaluación de Tecnologías Sanitarias, Informe de Respuesta Rapida No 529. 2017 Authors' conclusions The evidence supporting the use of whole exome sequencing is of low quality. The studies published indicate that the diagnostic performance of the test is low and its therapeutic impact after diagnosis is uncertain.
In addition, the use of this technology in clinical practice presents potential negative effects unknown so far and ethical dilemmas as to incidental findings when testing the patients' genetic material.
There is no consensus among the clinical practice guidelines consulted about its use recommendations.
None of the health sponsors assessed include them in their coverage policies.
Final publication URL www.iecs.org.ar Indexing Status Subject indexing assigned by CRD MeSH Exome; Humans; Nervous System Diseases; Sequence Analysis, DNA Language Published Spanish Country of organisation Argentina English summary There is no English language summary 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 32017000294 Date abstract record published 13/06/2017 |