Genetista de farmacia

LA JOLLA, CALIFORNIA – Allá por junio de 2000, cuando se anunció la secuencia preliminar del genoma humano, el presidente de Estados Unidos Bill Clinton proclamó: “Revolucionará el diagnóstico, la prevención y el tratamiento de la mayoría de las enfermedades humanas, si no todas”. Una década más tarde, la esperanza dio lugar a la desilusión, que se refleja en titulares como “El mapa humano genera muy pocas curas nuevas”.

Sin embargo, el pesimismo sobre el potencial de la investigación sobre el genoma humano para generar avances médicos ha surgido de expectativas poco realistas. De hecho, si bien las “balas de plata” que pueden curar nuestras enfermedades más temidas aún no se descubrieron, el progreso en el área de las interacciones de drogas genéticas, conocidas como farmacogenómica, ha sido extraordinario.

La capacidad para determinar los principales genes que representan nuestra respuesta variable a las drogas prescriptas logró mejorarse mediante una técnica conocida como un estudio de asociación del genoma completo (GWAS, por su sigla en inglés). Todo el genoma humano tiene aproximadamente 6.000 millones de bases, pero se puede realizar un análisis de su composición utilizando aproximadamente un millón de bases (0,01% del genoma) a través de un chip genético. Las bases en el chip son seleccionadas porque son informativas y contienen fragmentos del genoma, como un directorio de códigos postales. Utilizando la metodología GWAS, descubrimos la base biológica para las respuestas a muchas drogas –tanto con respecto a su efectividad como a sus efectos secundarios importantes.

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