[Whole exome sequencing in patients with undiagnosed neurological diseases]


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[Whole exome sequencing in patients with undiagnosed neurological diseases]
Larrea Bonavento N, Bardach A, Pichon-Riviere A, Augustovski F, García Martí S, Alcaraz A, Ciapponi A
 
 

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