[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 ID 32017000294
Spanish
Authors' recommendations:
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.
Details
Project Status:
Completed
Year Published:
2017
URL for published report:
www.iecs.org.ar/home-ets/
English language abstract:
An English language summary is available
Publication Type:
Not Assigned
Country:
Argentina
MeSH Terms
- Exome
- Humans
- Nervous System Diseases
- Sequence Analysis, DNA
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.