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The sequence of the human genome has dramatically accelerated biomedical research. Here I explore its impact, in the decade since its publication, on our understanding of the biological functions encoded in the genome, on the biological basis of inherited diseases and cancer, and on the evolution and history of the human species. I also discuss the road ahead in fulfilling the promise of genomics for medicine.
Initial impact of the sequencing of the human genome
On 15 February 2001, a decade ago this week, Nature published a 62-page paper entitled 'Initial sequencing and analysis of the human genome', reporting a first global look at the contents of the human genetic code. The paper1 marked a milestone in the international Human Genome Project (HGP), a discovery programme conceived in the mid-1980s and launched in 1990. The same week, Science published a paper2 from the company Celera Genomics, reporting a draft human sequence based on their own prodigious data, as well as data from the public HGP.
The human genome has had a certain tendency to incite passion and excess: from early jeremiads that the HGP would strangle research by consuming the NIH budget (it never rose to more than 1.5%); to frenzied coverage of a late-breaking genome race between public and private protagonists; to a White House announcement of the draft human sequence in June 2000, 8 months before scientific papers had actually been written, peer-reviewed and published; to breathless promises from Wall Street and the press about the imminence of genetic 'crystal balls' and genome-based panaceas; to a front-page news story on the tenth anniversary of the announcement that chided genome scientists for not yet having cured most diseases.
The goal of this review is to step back and assess the fruits of the HGP from a scientific standpoint, addressing three questions: what have we learned about the human genome itself over the past decade? How has the human sequence propelled our understanding of human biology, medicine, evolution and history? What is the road ahead?
The past decade has shown the power of genomic maps and catalogues for biomedical research. By providing a comprehensive scaffold, the human sequence has made it possible for scientists to assemble often fragmentary information into landscapes of biological structure...