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At the end of 2007, Science recognised human genetic variation as the “breakthrough of the year”.1 Beginning in April last year and extending through the current year, major advances have been made almost every week to unravel common DNA sequence variants that are incontrovertibly associated with common diseases. More than 50 diseases have now been reported, and many cardiovascular conditions are included in this avalanche of discoveries. There probably has been more progress in understanding the genomics of disease in the past year than for several previous decades in aggregate.
The seemingly relentless and extraordinary progress in genomics of complex traits is an outgrowth of three major initiatives. First, the Human Genome Project accomplished its goal of sequencing the 3.1 billion base pairs of man, with the draft first announced in 20002 (fig 1). Second, the International HapMap project studied 271 subjects of diverse ancestry3 to break down the genome into heritable “bins” or “blocks” that made the billions of base pairs eminently more manageable. Instead of three billion base pairs, the genome could be analysed by 250 000–500 000 bins, with each of these bins representing a sequence of DNA that was inherited as a unit. By selecting a single nucleotide polymorphism (SNP), a base-pair substitution, in each bin, a “window” into the whole genome was achieved. Third, genome science technology matured to the extent that 300 000 to 1 million informative, tag SNPs could be assessed in an individual rapidly and at a cost that was relatively affordable. Such ultra-high throughput genotyping platforms set the stage for the genome-wide association studies (GWAS) and a new era of personal, consumer genomics. Of note, one can see that we have been in a 7–8-year “incubation” phase, as depicted in fig 1, during which these three major fronts were progressing. …
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