There is an interesting piece in the NYT% about how, in the ten years since completion of the human genome, not much seems to have happened in terms of connecting common genetic variants with health outcomes. Researchers are now looking at rare variants instead.
Philosophically, it’s interesting that the move from common variants to rare variants is described by McClellan and King as a “paradigm shift” – normally, the expression is reserved for completely new ways of looking at a problem, the terms of which are more-or-less incompatible with the old approach (the classic example being the move from Newtonian physics to Relativity Theory).
In that context, simply examining uncommon variants rather than common variants in the genome seems much less revolutionary – though that’s not to say it’s not a good idea!
More radical is the “enviromics” concept, published very recently, of applying analytical methods from genomics to human/environment interactions, determining the differences, and mapping these onto health outcomes – to us, it looks not entirely unlike like turbo-charged epidemiology.
Patel, CJ et al. “An Environment-Wide Association study (EWAS) on type 2 diabetes mellitus.” PLoS One. 2010 May 20;5(5):e10746. [full text available]
Patel, CJ & AJ Butte. “Predicting environmental chemical factors associated with disease-related gene expression data.” BMC Med Genomics. 2010 May 6;3(1):17. [e-pub ahead of print]
There is an article on this in the most recent H&E here (see second article).