Guía de Procedimientos Operacionales y Recomendaciones en la Implementación de Secuenciación de Nueva Generación para Diagnóstico Clínico

Jorge David Mendez-Rios

Resumen


[Standard Operational Procedures and Recommendations on Next Generation Sequencing for Clinical Diagnostics]

Resumen

La tecnología diagnóstica conocida como NGS por sus siglas en inglés, o Secuenciación de nueva generación, es relativamente nueva, y se está implementando en algunos hospitales de Panamá.  Esta tecnología a demostrado ser una herramienta muy eficiente para la detección de alteraciones genómicas o exómicas, tanto para la clínica como para la investigación.  Dada la complejidad de esta prueba, requiere una infraestructura y un número significativo de recursos humanos para poder implementar esta prueba. El propósito de este documento es establecer un marco de referencia para los procedimientos administrativos en cuanto a la realización de las pruebas de secuenciación por metodología NGS. A demás, servirá de punto de inicio para el establecimiento de programas internos de control de calidad y evaluación de calidad que la metodología requiere en nuestro país.

 

Summary

The technology known as Next-Generation sequencing is relatively new, and it is being implemented in a few Panamenian hospitals. It has demonstrated to be a very efficient tool to identify genomic and exomic variants in a clinical setting as for research. Because of its complexity, it requires an important infrastructure and a significant number of trained health-care professionals to carry out this test. The purpose of this document is to establish the first work frame for the administrative aspects for NGS diagnosis. Moreover, it will serve as a starting point to establish quality control procedures that the technology requires.

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Referencias


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