The Human Genome

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Science  16 Feb 2001:
Vol. 291, Issue 5507, pp. 1153
DOI: 10.1126/science.291.5506.1153

Humanity has been given a great gift. With the completion of the human genome sequence, we have received a powerful tool for unlocking the secrets of our genetic heritage and for finding our place among the other participants in the adventure of life.

This week's issue of Science contains the report of the sequencing of the human genome from a group of authors led by Craig Venter of Celera Genomics. The report of the sequencing of the human genome from the publicly funded consortium of laboratories led by Francis Collins appears in this week's Nature. This stunning achievement has been portrayed— often unfairly—as a competition between two ventures, one public and one private. That characterization detracts from the awesome accomplishment jointly unveiled this week. In truth, each project contributed to the other. The inspired vision that launched the publicly funded project roughly 10 years ago reflected, and now rewards, the confidence of those who believe that the pursuit of large-scale fundamental problems in the life sciences is in the national interest. The technical innovation and drive of Craig Venter and his colleagues made it possible to celebrate this accomplishment far sooner than was believed possible. Thus, we can salute what has become, in the end, not a contest but a marriage (perhaps encouraged by shotgun) between public funding and private entrepreneurship.

There are excellent scientific reasons for applauding an outcome that has given us two winners. Two sequences are better than one; the opportunity for comparison and convergence is invaluable. Indeed, a real-world proof of the importance of access to both sets of data can be found in the pages of this issue of Science, in the comparative analysis by Olivier et al. (p. 1298).

Although we have made the point before, it is worth repeating that the sequencing of the human genome represents, not an ending, but the beginning of a new approach to biology. As Galas says in his Viewpoint (p. 1257), the knowledge that all of the genetic components of any process can be identified will give extraordinary new power to scientists. Because of this breakthrough, research can evolve from analyzing the effects of individual genes to a more integrated view that examines whole ensembles of genes as they interact to form a living human being. Several articles in this issue highlight how this approach is already beginning to revolutionize the way we look at human disease.

This has been a massive project, on a scale unparalleled in the history of biology, but of course it has built on the scientific insights of centuries of investigators. By coincidence, this landmark announcement falls during the week of the anniversary of the birth of Charles Darwin. Darwin's message that the survival of a species can depend on its ability to evolve in the face of change is peculiarly pertinent to discussions that have gone on in the past year over access to the Celera data. (Full information regarding the agreements that were reached to make the data available can be found at We are willing to be flexible in allowing data repositories other than the traditional GenBank, while insisting on access to all the data needed to verify conclusions. In this domain, change is everywhere: Commercial researchers are producing more and more potentially valuable sequences, yet (at least in the United States) laws governing databases provide scant protection against piracy. Had the Celera data been kept secret, it would have been a serious loss to the scientific community. We hope that our adaptability in the face of change will enable other proprietary data to be published after peer review, in a way that satisfies our continuing commitment to full access.

It should be no surprise that an achievement so stunning, and so carefully watched, has created new challenges for the scientific venture. Science is proud to have played a role in bringing this discovery onto the public stage. It is literally true that this is a historic moment for the scientific endeavor. The human genome has been called the Book of Life. Rather, it is a library, in which, with rules that encourage exploration and reward creativity, we can find many of the books that will help define us and our place in the great tapestry of life.

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