The announcement that a “rough draft” of the sequence of the human genome—a comprehensive listing of the base pairs on the whole set of human chromosomes—had been completed represented the summation of eleven years of work by the publicly funded International Human Genome Project and the private company Celera Genomics.
The initial groundwork for the sequencing of the human genome was laid in 1977, when Frederick Sanger devised a practical technique for determining the sequence of base pairs in strands of deoxyribonucleic acid (DNA). Serious discussion of the possibility of mounting such a project was begun in 1986 by the U.S. Department of Energy and the British Medical Research Council, in spite of the massive amount of work that would be involved: The human gene sequence contains three billion base pairs distributed on twenty-three pairs of chromosomes, and the original estimate of cost was approximately one dollar per base pair.
In 1988, James D. Watson was appointed head of an initiative launched by the U.S. National Institutes of Health (NIH), and a Human Genome Organization was established to coordinate international contributions to the project. The Human Genome Project (HGP) was launched in the following year. It rapidly fell victim to a dispute regarding the potential patentability of its discoveries; the director of the NIH announced in 1991 that patent applications had been filed on 6,122 gene fragments, prompting the resignation of Watson—who opposed the applications—as the NIH’s project leader. All the NIH applications were rejected by the U.S. Patent Office, but the scientist behind the move, J. Craig Venter, also resigned from the NIH in order to set up the privately funded Institute of Genomic Research.
J. Craig Venter (left) and Francis Collins (right) join President Bill Clinton to announce the completion of an initial sequencing of the human genome.
The HGP was scaled up in 1992. The Sanger Centre (now the Sanger Institute) at the Wellcome Trust Genome Campus at Hinxton, near Cambridge, England—which was to be responsible for one-third of the sequencing work—opened in 1993. Its principal U.S. venues were the U.S. Department of Energy’s Joint Genome Institute
In January, 2000, Venter announced that Celera had more than 90 percent of the genome (and 97 percent of the functional genes) in its database. In the meantime, the competition he provided had prompted a considerable acceleration of the HGP, whose final target date was brought forward from 2005 to 2003 (the fiftieth anniversary of James Watson and Francis Crick’s epoch-making discovery of the structure of DNA). U.S. president Bill Clinton and British prime minister Tony Blair issued a joint statement on March 14, 2000, declaring that basic genomic data ought to be released into the public domain and that patents should only be granted to “gene-based inventions.”
On June 26, 2000, Clinton authorized a White House press release made by his adviser Neal Lane—in the presence of Francis Collins of the NIH’s National Human Genome Research Institute, Craig Venter of Celera, and Ari Patrinos, director of the Department of Energy Human Genome Program—announcing that “working drafts” of the human genome had been completed by both the HGP and Celera. The announcement included a promise that a “high accuracy reference sequence” would be published within three years—as, indeed, it was, the HGP’s complete version being published in April, 2003.
President Clinton pledged in the June 26 press release to continue to accelerate the U.S. commitment to translate the human genome “blueprint” into health care strategies and therapies, claiming that a “new era of genetic medicine” had begun. (The subsequent George W. Bush administration proved less enthusiastic in maintaining this commitment.) The working draft was subsequently published in simultaneous special issues of the key journals Nature and Science, in association with a press conference held on February 12, 2001, to discuss the implications of its publication.
The sequencing of the human genome was a key stage in the identification of all the genes that humans possess and of all the proteins they produce; the ultimate objective of such research is to determine the various functions of every protein within the human body and the effects of genetic variation on their functioning.
The sequencing of the human genome was the most significant achievement of the new science of genomics, which had come into being as a result of Sanger’s development of a sequencing technique. Rapid progress was subsequently made in sequencing the DNA of many other organisms, especially those implicated in causing or spreading human diseases. Analysis of the human genome provided a solid basis for the advancement of human proteonomics (a comprehensive account of all the proteins contained with the human body)—a discipline that came to seem more complicated than previously expected in the wake of the HGP’s findings, when the sequence published in 2000 contained fewer functional genes than many geneticists had anticipated. Estimates of the possible number were eventually refined, in 2004, to somewhere between 20,000 and 25,000—much lower than the number anticipated before the sequence’s publication.
Once the base-pair sequence was determined and published, the way was clear for a much more sophisticated investigation of the causes of all medical conditions influenced by genetic makeup and variation, which Clinton was correct to define as a new era in medical science. Knowledge of the sequence permitted the anticipation of many health risks faced by particular individuals and facilitated the development of new treatments. The practical consequences of the discovery were reflected in the rapid growth of a new discipline of “pharmacogenomics,” which held out the potential of tailoring medical treatments to individuals’ particular genetic makeups.
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Deane-Drummond, Celia, ed. Brave New World? Theology, Ethics, and the Human Genome. Edinburgh: T. T. Clark, 2003. Collection of essays offering various perspectives on the ethical implications of the sequence of the human genome, with particular comparative reference to traditional religious perspectives. -
Dennis, Carina, and Richard Gallagher, eds. The Human Genome. New York: Palgrave, 2001. Collection of papers, with a foreword by James D. Watson, summarizing the state of human genomic science in the wake of the working draft. -
Gee, Henry. Jacob’s Ladder: The History of the Human Genome. New York: W. W. Norton, 2004. A popular science book by one of Nature’s editors that takes a broad view of human genetics in the light of the working draft’s revelations regarding human genomics. -
“The Human Genome.” Nature 409 (February 15, 2001): 745-964. A special issue publishing the working draft announced in 2000, with a collection of relevant papers. In March, 2003, Nature’s monthly subsidiary Nature Genetics published a “ten-year retrospective” summarizing the history and achievements of the HGP. -
“The Human Genome.” Science 291 (February 16, 2001): 1145-1434. A special issue publishing the working draft announced in 2000, with a collection of relevant papers. While the parallel special issue of Nature concentrated on the HGP’s contribution, Science concentrated on Celera’s. Science published a second special issue on the subject dated April 11, 2003, titled “Building the DNA Revolution.” -
Palladino, Michael Angelo. Understanding the Human Genome Project. San Francisco: Benjamin Cummings, 2002. An elementary introduction to the project and its findings aimed at high school and college students.
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