AFTER a series of well-publicised drafts, at last we have it: the final, all singing, all dancing, gold-standard edition of the human genome. It is now as complete as it can be with existing technology, researchers announced earlier this week in Bethesda, Maryland.
鈥淚t鈥檚 the first and only edition of the book of life, and everything before it was simply a draft,鈥� says Francis Collins, director of the US鈥檚 National Human Genome Research Institute in Bethesda, and the head of the 2500-strong international team of researchers at 16 centres around the world who did the sequencing.
Unlike the earlier drafts, there are no substantial holes left in the string of 3 billion base units that make up our 24 chromosomes. 鈥淭here are still gaps that are [currently] unsequenceable, but it鈥檚 only about 1.5 per cent,鈥� says Collins. 鈥淭hat鈥檚 what we called the finishing line when we began this enterprise, and now we鈥檝e done it.鈥�
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The completed sequence eclipses all the previous and much-hyped 鈥渓aunches鈥� of the genome, including the first draft hailed by Bill Clinton in November 2000 as 鈥渢he most wondrous map ever produced鈥�. And it is freely available on the web. 鈥淲e can now declare victory for this endeavour,鈥� says Collins, a task which has taken 13 years. 鈥淚鈥檇 say I鈥檓 exhilarated.鈥�
But researchers still have to wait for the full analysis and annotation of the sequence which could take a year. Collins says the genome teams are still discussing timing, but they intend to publish papers on each individual chromosome sequenced.
In a 13-page feature that will appear in next week鈥檚 Nature, Collins outlines the challenges ahead. As analyses of our genes roll in, along with the proteins they produce and their chemical structures, he warns that we need to avoid the patenting nightmares that beset the task of sequencing. 鈥淲e may be headed for a rerun if we鈥檙e not careful. This time we need to be more pro-active.鈥�