ABSTRACT

The conceptual development and the praxis of pharmacogenetics and pharmacogenomics will depend on a solid understanding of the evolution and structure of human genomic diversity. In this review three historically sequential views of human variability are discussed. The first, typological and essentialist, was based in the partition of humanity into races. The second involved a division into populations rather than races. The third, a new genealogical paradigm, emerged on the bases of three recent scientific developments: (1) the demonstration of absolute genome individuality in humans; (2) the genetic and paleonto­ logical demonstration of a recent and unique origin for modern man in Africa; and (3) the discovery that the human genome is structured in haplotype blocks. The new paradigm is solidly founded on human evolutionary history and stresses individuality rather than mem­ bership in populations. According to it we can envisage the human genome as composed of hundreds of thousands of small genomic blocks of high linkage disequilibrium, each one with its own pattern of variation and genealogical origin. Under this model, ideas such as that of human races or “race-targeted drugs” become meaningless.