The normal genome in twentieth-century evolutionary thought

Abstract The Human Genome Project (HGP) has been criticised from an evolutionary perspective for three reasons: completely ignoring genetic variation; improperly treating either all or some genetic variation as deviation from a norm; and mistakenly seeking to define species in terms of essential properties possessed by all and only member organisms. The first claim is unfounded; the second and third claims are more on target. Nevertheless, it is a mistake to use the typological-population distinction to oppose molecular genetics and evolutionary genetics in order to characterise HGP mapping and sequencing aims, especially the production of a DNA reference sequence, as 'anti-evolutionary' and 'pre-Darwinian.' These aims are consistent with certain strands in twentieth-century evolutionary thought: Muller's classical theory, Kimura's neutral and 'effectively neutral' theories, and, to a lesser extent, Dobzhansky's balance theory of the genetic structure of natural populations. In practice, population-based approaches to human genetic variation are similarly vulnerable to charges of 'typological' and 'essentialist' thinking in their treatment of genetic variation as deviation. This means that the Human Genome Diversity Initiative will not provide a population-based panacea for an overly typological HGP, as its proponents contend. Substituting related, and less rhetorically-charged, conceptual, empirical, and metaphysical distinctions for the typological-population distinction furnishes a better way to assess the concept of the normal genome from an evolutionary perspective.
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