Basic Information
 FAQs
 Glossary
 Acronyms
 Links
 Genetics 101
 Publications
 Meetings Calendar
 Media Guide

• Why was the Department of Energy involved in the Human Genome Project?
• What was the budget of the Department of Energy's Human Genome Program?
• What DOE investments have improved the Human Genome Project by reducing costs, speeding progress, furthering technology?
• Where can I learn more about the Department of Energy's current genomics research?

Why was the Department of Energy (DOE) involved in the Human Genome Project?

Consistent with the goals of the Human Genome Project, the DOE Human Genome Program focused on the following:

• Mapping (more information) human chromosomes 2, 5, 11, X, 16, 19, and 21;
• Comparative studies between mouse and human genomes
• Development of important biological resources for the Human Genome Project and the broader biomedical research communities, including purified DNA collections for each human chromosome and sequence-ready DNA
• Technologies, instrumentation, and robotics for more efficient DNA sequencing;
• Development of analysis algorithms and integration of databases (informatics) for managing and interpreting genome data
• Communicating about the Human Genome Project to those who would interpret it for various professions and ultimately for the public

Another important DOE goal was to foster research into the ethical, legal, and social implications (ELSI) of genome research. The DOE Human Genome Program ELSI component and the data it generated concentrated on two main areas: (1) privacy and confidentiality of personal genetic information, including its accumulation in large, computerized databases and databanks; and (2) development of educational materials and activities in genome science and ELSI, including curricula and TV documentaries, workshops, and seminars for targeted audiences. Other areas of interest include data privacy arising from potential uses of genetic testing in the workplace and issues related to commercialization of genome research results and technology transfer.

For more details on the Department of Energy's involvement, see the following:

• "Introducing the Human Genome Project: Its Relevance, Triumphs, and Challenges " by Ari Patrinos and Daniel W. Drell
• "Evolution of a Vision -- Part I" by David Smith
• "Evolution of a Vision -- Part II" by Francis S. Collins
• "The Alta Summit, December 1984" by Robert Mullan Cook-Deegan
• Interview with Ari Patrinos, head of the US DOE Human Genome Program.

What was the the Human Genome Project's budget?

The Human Genome Project was sometimes reported to have cost $3 billion. However, this figure refers to the total projected funding over a 13-year period (1990–2003) for a wide range of scientific activities related to genomics. These include studies of human diseases, experimental organisms (such as bacteria, yeast, worms, flies, and mice); development of new technologies for biological and medical research; computational methods to analyze genomes; and ethical, legal, and social issues related to genetics. Human genome sequencing represents only a small fraction of the overall 13-year budget.

The DOE and NIH genome programs set aside 3% to 5% of their respective total annual budgets for the study of the project's ELSI issues. For an in-depth look at the ELSI surrounding the project, see the ELSI Webpage.

* For an explanation of the NIH budget, contact the Office of Human Genome Communications, National Human Genome Research Institute, National Institutes of Health; 301/402-0911.

See also a Table of major government and nonprofit genomics research funders, 1998-2000 compiled as part of the World Survey of Genomics Research of the Stanford-in-Washington Program.

What DOE investments improved the efficiency of the Human Genome Project by reducing costs, speeding progress, furthering technology?

The scientific foundation for DOE's Human Genome Initiative already existed at the national laboratories.

• DOE had a long history of conducting large multidisciplinary projects involving biologists, chemists, engineers, and mathematicians.
• Genbank, a DNA sequence repository, had been developed at Los Alamos National Laboratory (LANL) with DOE computer and data-management expertise. Today, Genbank, the world's principal DNA sequence database, resides at the National Library of Medicine.
• Chromosome-sorting capabilities essential to a genome initiative existed at LANL and Lawrence Livermore National Laboratory (LLNL). Using this technology, LANL and LLNL began the National Laboratory Gene Library Project, a collection of cloned DNAs from single human chromosomes.

In 1986, DOE became the first federal agency to announce and fund a genome program.

Developing the Tools and Technologies for Success
[NOTE: The DOE investments described below helped make the Human Genome Project a success. Substantial investments by NIH and the Wellcome Trust in the U.K. were equally important, however, and should not be overlooked. In most cases, the DOE successes outlined below were the result of basic research programs. Research is an incremental process that learns from both the successes and failures of other research investments, including those at other agencies and organizations. In addition, no single instrument, technology, reagent, or protocol made high-throughput DNA sequencing possible, many contributors were responsible.]

DNA Sequencers
Research on capillary-based DNA sequencing contributed to the development of the two major DNA sequencing machines—the Perkin-Elmer 3700 and the MegaBace DNA sequencers. The MegaBace DNA sequencer was developed initially with DOE funds by Dr. Richard Mathies at U.C. Berkeley. The Perkin-Elmer 3700 was based, in part, on DOE-funded research by Dr. Norman Dovichi at the University of Alberta. These high-throughput instruments are one of the keys to the success of the genome project.

Fluorescent dyes
DNA sequencing originally used radiolabeled DNA subunits. DOE-funded research contributed to the development of fluorescent dyes that increased the accuracy and safety of DNA sequencing as well as the ability to automate the procedures.

DNA cloning vectors
Before large DNA molecules can be sequenced, they are cut into small pieces and multiplied, or cloned, into numerous copies using microbial-based "cloning" vectors. Today, the bacterial artificial chromosome (BAC) is the most commonly used vector for initial DNA amplification before sequencing. These cloning vectors were developed with DOE funds.

BAC-end sequencing
The widely agreed-upon strategy for sequencing the human genome is based on the use of BACs that carry fragments of human DNA from known locations in the genome. DOE-funded research at The Institute for Genomic Research in Rockville, Maryland, and at the University of Washington provided the sequencing community with a complete set of over 450,000 BAC-based genetic "markers" corresponding to a sequence tag every 3 to 4 kilobases across the entire human genome. These markers were needed to assemble both the draft and the final human DNA sequence.

GRAIL
GRAIL (Gene Recognition and Assembly Internet Link) is one of the most widely used computer programs for identifying potential genes in DNA sequence and for general DNA sequence analysis. This powerful analytical tool was developed with DOE funds by Dr. Ed Uberbacher at Oak Ridge National Laboratory. Although a number of gene-finding tools are now available for use, GRAIL led the way.

Reducing Costs and Speeding Up Sequencing
The above technological developments dramatically decreased DNA sequencing's cost while increasing its speed and efficiency. For example, it took 4 years for the international Human Genome Project to produce the first billion base pairs of sequence and less than 4 months to produce the second billion base pairs. In the month of January 2003, the DOE team sequenced 1.5 billion bases. The cost of sequencing has dropped dramatically since the project began and is still dropping rapidly.

Where can I find details about the Department of Energy's current genomics research?

See the website of the DOE Genomics:GTL Program. GTL is DOE's next step in genomics--builds on data and resources from the Human Genome Project, the Microbial Genome Program, and systems biology. GTL will accelerate understanding of dynamic living systems for solutions to DOE mission challenges in energy and the environment.

Send the url of this page to a friend