BETHESDA, Md.--Eight years into its 15-year program, the US Human Genome Project and Francis Collins, director of the National Human Genome Research Institute, announced project revisions that call for completing the entire human genome sequence by 2003, two years ahead of the original schedule. The new plan includes increasing investments in technology to support faster and more accurate sequencing. The National Advisory Council for Human Genome Research approved the revisions on September 14.
Project planners also want to expand study of human genetic variation, genomic function, genomic analysis of model organisms, and ethical, legal, and social implications of genome research. Collins conceded that the new goals are "ambitious, even audacious," but added that the project has historically outpaced its goals. "We have always done better than we thought we could. If there ever was a time to spark the imagination of the scientific community and the public, it is now," he said.
The announcement stated that, although DNA sequencing technology has improved dramatically since the project began, "in the future, de novo sequencing of additional genomes and comparative sequencing of closely related genomes, and sequencing to assess variations within genomes, will become increasingly indispensable to biological research."
Much more efficient sequencing technology will be needed than is currently available, the report warned. "Improvements made to data have been incremental and have not yet resulted in a paradigm shift. Nevertheless, the current state-of-the-art technology can still be significantly improved and resources should be invested to accomplish that. Beyond that, research in new technology must be supported," the plan urged.
According to the new outline, a complete, highly accurate human genome sequence will be completed by late 2003, 50 years after the discovery by James Watson and Francis Crick of the double helix structure of DNA. Watson served as the first director of the Human Genome Project, from 1989 to 1992. Finishing the sequence by the anniversary year would be a "fitting tribute," the statement noted.
The next step is to generate a "working draft" of the sequence that planners said will, together with the finished sequence, cover at least 90 percent of the genome in 2001.
The bioinformatics and genomics community reacted to the announcement with excitement. A bioinformatics manager at an international pharmaceutical company called it "encouraging to see that they have adopted the strategy of producing a rough draft of the human sequence before trying to produce completely finished sequence. For us in the pharma industry, I think it will provide much more valuable data much sooner."
The report recommends three more steps: continue to increase throughput and reduce costs of current technology; support research of novel technology; and develop effective methods for the advanced development and introduction of new technology into the sequencing process.
New areas of study recommended by the report include how variations in human DNA sequence among populations relate to development of or protection from disease; new technologies and strategies for studying genetic function on a whole-genome scale; and ethical and social implications of genetic research related to personal identity, racial or ethnic background, and philosophical and religious traditions.