La humanización del proyecto del genoma humano

COLD SPIRNG HARBOR – Desde que se secuenció por primera vez el genoma humano en 2000, la ciencia genómica se ha acelerado a un ritmo notable. Gracias a los rápidos avances en la tecnología de secuenciación del ADN, ya está cerca una descodificación económicamente asequible del genoma humano. De hecho, en los próximos años se podrían secuenciar genomas humanos por tan sólo 1.000 dólares. Lamentablemente, la actual clase dirigente de la investigación médica carece de la menor preparación para semejante situación.

Los investigadores creen con frecuencia que su misión es la de descubrir nuevos fenómenos biológicos y genéticos y que otros los materializarán en el ámbito clínico. Así, pues, muchos genetistas han trabajado en materia de genética “con mayúsculas”, incluidos los estudios de asociación del genoma completo centrados en la variación genética común de la especie humana.

Pero se sabe perfectamente que ciertas mutaciones pueden darse en familias, lo que aumenta en gran medida los riesgos de ciertas enfermedades: por ejemplo, el cáncer de mama, la anemia falciforme y la fibrosis quística. Lamentablemente, muchos especialistas en genética molecular humana han renunciado a ejercer su responsabilidad para intentar reducir la carga total de semejantes enfermedades.

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