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Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.

Whole exome sequencing in neurogenetic odysseys: An effective, cost- and time-saving diagnostic approach.
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Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, Vásquez-Dusefante C, Medina N, González-Morón D, Kauffman MA,


Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, Vásquez-Dusefante C, Medina N, González-Morón D, Kauffman MA, (click to view)

Córdoba M, Rodriguez-Quiroga SA, Vega PA, Salinas V, Perez-Maturo J, Amartino H, Vásquez-Dusefante C, Medina N, González-Morón D, Kauffman MA,

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PloS one 2018 02 0113(2) e0191228 doi 10.1371/journal.pone.0191228
Abstract
BACKGROUND
Diagnostic trajectories for neurogenetic disorders frequently require the use of considerable time and resources, exposing patients and families to so-called "diagnostic odysseys". Previous studies have provided strong evidence for increased diagnostic and clinical utility of whole-exome sequencing in medical genetics. However, specific reports assessing its utility in a setting such as ours- a neurogeneticist led academic group serving in a low-income country-are rare.

OBJECTIVES
To assess the diagnostic yield of WES in patients suspected of having a neurogenetic condition and explore the cost-effectiveness of its implementation in a research group located in an Argentinean public hospital.

METHODS
This is a prospective study of the clinical utility of WES in a series of 40 consecutive patients selected from a Neurogenetic Clinic of a tertiary Hospital in Argentina. We evaluated patients retrospectively for previous diagnostic trajectories. Diagnostic yield, clinical impact on management and economic diagnostic burden were evaluated.

RESULTS
We demonstrated the clinical utility of Whole Exome Sequencing in our patient cohort, obtaining a diagnostic yield of 40% (95% CI, 24.8%-55.2%) among a diverse group of neurological disorders. The average age at the time of WES was 23 (range 3-70). The mean time elapsed from symptom onset to WES was 11 years (range 3-42). The mean cost of the diagnostic workup prior to WES was USD 1646 (USD 1439 to 1853), which is 60% higher than WES cost in our center.

CONCLUSIONS
WES for neurogenetics proved to be an effective, cost- and time-saving approach for the molecular diagnosis of this heterogeneous and complex group of patients.

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