Human Genome Project

History and Leadership

The HGP was conceived in 1985 during a scientific meeting held at the University of California, Santa Cruz (UCSC). At this gathering, Robert Sinsheimer, then chancellor of UCSC, proposed that sequencing the human genome was a feasible undertaking. In 1987, Charles DeLisi, director of the Office of Health and Environmental Research (OHER) at the U.S. Department of Energy (DOE), allocated $5.3 million to create the Human Genome Initiative, which funded national laboratories to develop methodologies for genome sequencing. In its own endeavor to sequence the genome, the National Institutes of Health (NIH) established the Office of Human Genome Research (OHGR) in 1988 and appointed James Watson to lead the sequencing project. The DOE and NIH efforts quickly merged into a joint collaboration with common goals. In 1989, the OHGR was expanded and renamed the National Center for Human Genome Research (NCHGR), and it became a grant-awarding [Page 511]agency. The official beginning of the HGP occurred in 1990, when the DOE and NIH presented a 5-year plan to Congress. Francis Collins was named director of the NCHGR in 1993, following Watson's resignation in 1992 and the interim directorship of Michael Gottesman. In 1997, the NCHGR was elevated to the National Human Genome Research Institute (NHGRI). Led by Aristides Patrinos, the DOE created the Joint Genome Institute in 1997, which created a formal association between several DOE sequencing centers.

In a private effort to sequence the human genome, former NIH scientist J. Craig Venter formed Celera Genomics in 1998, pledging to sequence the human genome within 3 years at a cost of US$300 million. This announcement spurred a subsequent publicprivate HGP rivalry, which some credit with accelerating the NIH and DOE sequencing efforts.

At a press conference at the White House in June 2000, Collins, Venter, and Patrinos announced jointly that the working draft of the human genome was complete, several years ahead of schedule. The public and private sequencing efforts published the working draft of the human genome in concurrent issues of the journals Nature and Science, respectively. This working draft was edited and refined as more sequence data became available. In 2003, the finished sequence was announced, with an error rate of fewer than 1 per 10,000 bases (i.e., 99.99% accurate) and with no remaining gaps that can be sequenced with current technology.

Goals of the HGP

The first 5-year HGP plan presented to Congress in 1990 outlined seven project goals: mapping and sequencing the human genome; mapping and sequencing the genomes of model organisms; developing data collection and analysis methods; studying the ethical, legal, and social implications of the project; training scientists; developing technology; and establishing technology transfer. As the project progressed, these goals were revised and expanded in 1993 and 1998. Key examples of activities related to achieving the HGP goals are outlined below.

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