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page-title: The Human Genome Project, 1990-2003
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The Human Genome Project,
1990-2003

Genomics and Its Impact on Science and Society: The Human
Genome Project and Beyond

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A Brief Overview
 Though surprising to
many, the Human Genome Project (HGP) traces its roots to an
initiative in the U.S. Department of Energy (DOE). Since 1947, DOE
and its predecessor agencies have been charged by Congress with
developing new energy resources and technologies and pursuing a
deeper understanding of potential health and environmental risks
posed by their production and use. Such studies, for example, have
provided the scientific basis for individual risk assessments of
nuclear medicine technologies.

In 1986, DOE took a bold step in
announcing the Human Genome Initiative, convinced that its missions
would be well served by a reference human genome sequence. Shortly
thereafter, DOE joined with the National Institutes of Health (NIH)
to develop a plan for a joint HGP that officially began in 1990.
During the early years of the HGP, the Wellcome Trust, a private
charitable institution in the United Kingdom, joined the effort as
a major partner. Important contributions also came from other
collaborators around the world, including Japan, France, Germany,
and China.

Ambitious Goals
The HGP’s ultimate goal was to
generate a high-quality reference DNA sequence for the human
genome‘s 3 billion base pairs and to identify all human
genes. Other important goals included sequencing the genomes of
model organisms to interpret human DNA, enhancing computational
resources to support future research and commercial applications,
exploring gene function through mouse-human comparisons, studying
human variation, and training future scientists in
genomics.

The powerful analytic technology
and data arising from the HGP raise complex ethical and policy
issues for individuals and society. These challenges include
privacy, fairness in use and access of genomic information,
reproductive and clinical issues, and commercialization (see p. 8).
Programs that identify and address these implications have been an
integral part of the HGP and have become a model for bioethics
programs worldwide.

A Lasting Legacy

In June 2000, to much excitement
and fanfare, scientists announced the completion of the first
working draft of the entire human genome. First analyses of the
details appeared in the February 2001 issues of the journals Nature
and Science. The high-quality reference sequence was completed in
April 2003, marking the end of the Human Genome Project—2
years ahead of the original schedule. Coincidentally, this was also
the 50th anniversary of Watson and Crick’s publication of DNA
structure that launched the era of molecular biology.

Available to researchers worldwide,
the human genome reference sequence provides a magnificent and
unprecedented biological resource that will serve throughout the
century as a basis for research and discovery and, ultimately,
myriad practical applications. The sequence already is having an
impact on finding genes associated with human disease (see p. 3).
Hundreds of other genome sequence projects—on microbes,
plants, and animals—have been completed since the inception
of the HGP, and these data now enable detailed comparisons among
organisms, including humans.

Many more sequencing projects are
under way or planned because of the research value of DNA sequence,
the tremendous sequencing capacity now available, and continued
improvements in technologies. Sequencing projects on the genomes of
many microbes, as well as the honeybee, cow, and chicken are in
progress.

Beyond sequencing, growing areas of
research focus on identifying important elements in the DNA
sequence responsible for regulating cellular functions and
providing the basis of human variation. Perhaps the most daunting
challenge is to begin to understand how all the “parts”
of cells—genes, proteins, and many other molecules—work
together to create complex living organisms. Future analyses on
this treasury of data will provide a deeper and more comprehensive
understanding of the molecular processes underlying life and will
have an enduring and profound impact on how we view our own place
in it.

Primer - History - Insights -
Medicine
- Benefits - Concerns -
Beyond - Systems - Microbes - Dictionary - Home

 The online presentation of this publication is a special
feature of the Human Genome
Project Information Web site (http://www.ornl.gov/TechResources/Human_Genome/).

