HUMAN GENOME PROJECT FINISHED
International consortium announces all original goals met, plans for future
At a symposium held last week to mark the 50th anniversary of the double helix structure of DNA, Francis S. Collins, director of NIH's National Human Genome Research Institute (NHGRI), announced that he was "pleased and exhilarated" to "declare the goals of the Human Genome Project to be completed." At the same meeting, Collins released NHGRI's vision for the future of genomic research. "The genome era is now a reality," he said.
The genome sequencing effort was completed ahead of schedule and under budget, Collins said. When officially started in 1990, the project was expected to take 15 years with a U.S. contribution of $3 billion. Instead, it has taken less than 13 years and cost $2.6 billion. The U.S. portion was led by NHGRI and the Department of Energy.
The question of how this sequence differs from the draft sequence published in February 2001 was addressed by Robert H. Waterston, a scientist at the Genome Sequencing Center at Washington University in St. Louis, one of the U.S. facilities involved with the genome project. His answer: "completeness and continuity." The "finished" draft covers 99% of the genome and closes 99.5% of the gaps in the rough draft. Closing those gaps wasn't easy. "Like climbing Mount Everest, the last 10% is the greatest challenge," Waterston said.
Collins unveiled the blueprint that serves as NHGRI's answer to the question "What's next?" The plan for genomics, the product of more than a year of discussion with nearly 600 scientists, will be published in the April 24 issue of Nature [422, 835 (2003)].
Using the metaphor of a blueprint for a three-story house, Collins said the future of NHGRI will be built on the foundation of the Human Genome Project. The three levels of the house correspond to broad areas of the plan labeled "genomics to biology," "genomics to health," and "genomics to society." Within the broad topics, the plan lays out 15 grand challenges. Crosscutting elements--such as technology development, education, and computational biology--that are common to all of the broad themes are also included. Unlike the plans for the Human Genome Project, the plan for the future of NHGRI doesn't include proposed timelines.
Also moving forward with its genomics research, DOE has launched a program known as Genomes to Life. Aristides A. N. Patrinos, director of DOE's Office of Biological & Environmental Research in the Office of Science, described the program as a "bold new foray into biotechnology research with goals relevant to the DOE mission." The DOE program will "harness the powers of the microbial world" for such goals as environmental cleanup, carbon sequestration, and new energy sources, Patrinos said.
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