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Candidate Gene Testing in Clinical Cohort Studies with Multiplexed Genotyping and Mass Spectrometry
Published on: June 21, 2018
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Farmacogenómica en la clínica
Mary V Relling1, William E Evans1
1Department of Pharmaceutical Sciences, St. Jude Children's Research Hospital, Memphis, Tennessee 38105-2794, USA.
Nature
|October 16, 2015
Resumen
Las variaciones farmacogenómicas en unos 20 genes afectan a 80 medicamentos, guiando las elecciones clínicas de medicamentos. Los esfuerzos están pasando del descubrimiento a la implementación de estrategias basadas en la evidencia para la medicina de precisión.
Área de la Ciencia:
- Farmacogenómica
- La genética
- Farmacología clínica
Sus antecedentes:
- Décadas de investigación han identificado variaciones genéticas heredadas que afectan la respuesta a los medicamentos.
- Se sabe que aproximadamente 20 genes influyen en la eficacia y seguridad de unos 80 medicamentos.
- Las variantes genéticas somáticas se utilizan cada vez más para guiar la selección de fármacos contra el cáncer.
Objetivo del estudio:
- Resumir el estado actual de los conocimientos farmacogenómicos y sus aplicaciones clínicas.
- Para resaltar la transición del descubrimiento genético a la aplicación clínica.
- Enfatizar el papel de la farmacogenómica en el avance de la medicina de precisión.
Principales métodos:
- Revisión de las variaciones genéticas identificadas y sus medicamentos asociados.
- Análisis de las prácticas clínicas actuales y estrategias de aplicación.
- Síntesis de la evidencia que apoya la terapia guiada por farmacogenómica.
Principales resultados:
- Se dispone de información farmacogenómica para aproximadamente 20 genes que afectan a 80 medicamentos.
- Las variantes genéticas somáticas son cruciales para seleccionar terapias dirigidas contra el cáncer.
- La aplicación clínica de la farmacogenómica es un foco creciente.
Conclusiones:
- La farmacogenómica es una piedra angular de la medicina de precisión.
- Las estrategias de implementación basadas en la evidencia son esenciales para optimizar el uso de medicamentos.
- Se necesitan esfuerzos continuos para integrar la variabilidad farmacogenómica en la práctica clínica de rutina.
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