Progress, and Applications
of the Human Genome Project
Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
In this issue...
In the News
Genetics in Medicine
U.S. HGP on Fast Track for Early Completion
In September 1998, advisory committees at DOE and NIH approved new 5-year goals aimed at completing the Human Genome Project (HGP) 2 years earlier than originally planned in 1990. The target date of 2003 also will mark the 50th anniversary of Watson and Crick's description of DNA's fundamental structure.
The new plan was published in the October 23, 1998, issue of Science, which also cited the contributions of international partners. These partners include the Sanger Centre in the United Kingdom and research centers in Germany, Japan, and France.
The U.S. HGP began officially in 1990 as a $3-billion, 15-year program to find the estimated 80,000 human genes and determine the sequence of the 3 billion DNA building blocks that underlie all of human biology and its diversity. The early phase of the HGP was characterized by efforts to create the biological, instrumentation, and computing resources necessary for efficient production-scale DNA sequencing. The first 5-year plan was revised in 1993 due to remarkable technological progress, and the second plan projected goals through FY 1998. The latest plan was developed during a series of individual and joint DOE and NIH workshops held over the past 2 years (see box, p. 3).
Observers have predicted that the 21th century will be the "biology century." The analytical power arising from the reference DNA sequences of several entire genomes and other genomic resources is anticipated to help jump start the new millennium.
Human DNA Sequencing
The plan calls for generating a "working draft" of the human genome DNA sequence by 2001. The working draft will comprise shotgun sequence data from mapped clones, with gaps and ambiguities unresolved. If these data sets can be merged with those from the private sector, they may increase the depth of the mapped draft, which scientists expect will contain about half the genes. Draft sequence will provide a foundation for obtaining the high-quality finished sequence and also will be a valuable tool for researchers hunting disease genes.
According to Ari Patrinos, DOE Associate Director for Biological and Environmental Research, "Although we have as our primary goal the finished Book of Life' by the end of 2003, we also want the working draft to be as useful as possible."
NIH and DOE sequencing centers expect their facilities to generate about 60% to 70% of the human DNA sequence, which will be made available broadly and rapidly via the Web to stimulate further research.
Methods are being developed to detect different types of variation, particularly the most common type called single-nucleotide polymorphisms (SNPs), which occur about once every 100 to 300 bases. Scientists believe SNP maps will help them identify the multiple genes associated with such complex diseases as cancer, diabetes, vascular disease, and some forms of mental illness. These associations are difficult to establish with conventional gene-hunting methods because a single altered gene may make only a small contribution to disease risk.
Ethical, Legal, and Social Implications (ELSI)
A continuing challenge is to safeguard the privacy of individuals and groups who contribute DNA samples for large-scale sequence-variation studies. Other concerns are to anticipate how the resulting data may affect concepts of race and ethnicity; identify potential uses (or misuses) of genetic data in workplaces, schools, and courts; identify commercial uses; and foresee impacts of genetic advances on the concepts of humanity and personal responsibility.
Bioinformatics and Computational Biology
The HGP already has revolutionized biology by providing tools and resources for basic research and has catalyzed the growth of the life sciences industry. Current and potential applications of genome research address national needs in molecular medicine, waste control and environmental cleanup, agriculture and animal husbandry, biotechnology, energy sources, and risk assessment.
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Last modified: Wednesday, October 29, 2003
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