The Human Genome Project (HGP) is a 15-year effort begun in 1990 to characterize the full set of genetic instructions (called the genome) of the human and other model organisms. The federal government supports human genome programs at the National Institutes of Health (NIH) and the Department of Energy (DOE).
The HGP operates from a plan of established goals to complete different levels of genome characterization, including gene mapping, mapping of genetic markers, developing sets of overlapping DNA pieces that span the entire genome, and identifying the order, or sequence, of each of the 3 billion subunits of human DNA. In its seven-and-a-half year history, the project has met virtually all of its goals on time (sometimes sooner) and on or under budget.
Other important goals include developing new strategies for analyzing the function of the human genome, for identifying genetic contributions to complex, multi-gene traits or diseases, studying human genetic variation, developing powerful bioinformatics tools, and, equally important, addressing the ethical, legal and social implications of these newfound abilities to decipher personal genetic information.
The HGP has always relied heavily on input from the scientific community to ensure that genome tools best fit the needs of the greater community. One of its primary goals is to produce a complete, high-quality human DNA sequence as a tool with which scientists can make the widest range of investigations into biology, medicine and other research areas. To achieve that, four important requirements for human DNA sequence have emerged: 1) The sequence must be accurate, that is, the DNA spellings must be correct. HGP sequencing programs will include quality assurance steps to ensure accuracy of 99.99 percent or better. 2) Large-scale sequencing relies on the accurate assembly of smaller lengths of sequenced DNA into longer, genomic-scale pieces, so DNA coming from the project will be assembled into pieces several hundred thousand base pairs long that reflect the original genomic DNA. 3) Because human DNA sequence must also be affordable, focus on technology development is needed to reduce cost as much as possible. 4) Finally, high-quality, finished human DNA sequence should be available to the entire research community, so the genome project has introduced policies to make all sequence accessible within 24 hours through public databases.
Throughout each of its research areas, development of newer, cheaper and more powerful technologies has been encouraged, stimulated and indeed required. The recent announcement by Perkin-Elmer and The Institute for Genome Research (TIGR) of a new approach to DNA sequencing offers interesting opportunities for large-scale DNA sequencing. The investment of substantial funds in this effort reaffirms the enormous value of HGP products. Because the announcement is new, it is not yet known what role the new technology will play over the long term in providing the publicly available, detailed, "A-to-Z" instruction book ultimately promised by the HGP. Project leaders at the National Institutes of Health and the Department of Energy look forward to close cooperation with Perkin-Elmer and TIGR as the new initiative is scaled up over the next few years.
Finally, development and introduction of any new technology that can rapidly decipher human genetic information, even in the research laboratory, highlights the continued need for protections against abuses of genetic information obtained from individuals or their family members. While such technologies are essential to fulfill the promise of the HGP and genomic medicine, they will serve us best when people feel free to avail themselves of health care technologies without fear of discrimination or stigmatization.
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Last Reviewed: September 2006