Genes, Chromosomes, and Disease: From Simple Traits, to Complex Traits, to Personalized Medicine

10. The dawn of personalized medicine

Deciphering of the human genome coupled with the HapMap and the ever-decreasing cost of genomic sequencing has brought us to a new era where remedies can be targeted evermore precisely against diseases and, perhaps more disturbingly, the onset of specific diseases can be predicted with more certainty.

None of the genetic disease treatments described in Chapter 9, “Treating genetic disease,” is targeted at specific mutations in the defective gene. Instead, they are meant to alleviate the effects of the disease for any mutation in that gene. Dietary prescriptions, for example for phenylketoneuria, apply to anyone with the disease, irrespective of which of the 500 different identified mutations they carry in ...