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Why was the Department of Energy (DOE) involved in the Human Genome Project?
After the atomic bomb was developed and used, the U.S. Congress charged DOE's
predecessor agencies (the Atomic Energy Commission and the Energy Research and
Administration) with studying and analyzing genome structure, replication,
damage, and repair and the consequences of genetic mutations, especially
those caused by radiation and chemical by-products of energy production.
From these studies grew the recognition that the best way to study these
effects was to analyze the entire human genome to obtain a reference sequence.
Planning began in 1986 for DOE's Human Genome Program and in 1987 for the
National Institutes of Health's (NIH) program. The DOE-NIH U.S. Human Genome
Project formally began October 1, 1990, after the first joint 5-year plan
was written and a memorandum of understanding was signed between the two
organizations. For more information see Progress of the
Human Genome Project and DOE Biological and
Environmental Research Program.
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:
What was the the Human Genome Project's budget?
|U.S. Human Genome Project Funding
|Note: These numbers do not include construction funds, which
are a very small part of the 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
(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
* 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?
Making the Project Possible
Its long-standing mission to understand and characterize the potential health
risks posed by energy use and production led DOE to propose, in the mid-1980s,
that all three billion bases of DNA from an "average" human should be sequenced.
Technologies available before that time had not enabled the routine detection
of extremely rare and often minute genetic changes resulting from radiation and chemical exposures.
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
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.]
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.
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
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.
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 (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
See the website of the DOE
Genomic Science Program. GSP is DOE's next step in genomics--builds
on data and resources from the Human Genome Project, the Microbial
Genome Program, and systems biology. GSP will accelerate understanding
of dynamic living systems for solutions to DOE mission challenges
in energy and the environment.