About the Human Genome Project

What is the Human Genome Project?

Begun formally in 1990, the U.S. Human Genome Project was a 13-year effort coordinated by the
U.S. Department of Energy and the National Institutes of Health. The project originally was
planned to last 15 years, but rapid technological advances accelerated the completion date to
2003. Project goals

identify all the approximately 20,000-25,000 genes in human DNA,

determine the sequences of the 3 billion chemical base pairs that make up human DNA,

store this information in databases,

improve tools for data analysis,

transfer related technologies to the private sector, and

address the ethical, legal, and social issues (ELSI) that may arise from the project.

To help achieve these goals, researchers also studied the genetic makeup of several nonhuman
organisms. These include the common human gut bacterium Escherichia coli, the fruit fly, and the
laboratory mouse.

A unique aspect of the U.S. Human Genome Project is that it was the first large scientific
undertaking to address potential ELSI implications arising from project data.

Another important feature of the project was the federal government's long-standing dedication to
the transfer of technology to the private sector. By licensing technologies to private companies and
awarding grants for innovative research, the project catalyzed the multibillion-dollar U.S.
biotechnology industry and fostered the development of new medical applications.

Landmark papers detailing sequence and analysis of the human genome were published in
February 2001 and April 2003 issues of Nature and Science. See an index of these papers and learn
more about the insights gained from them.

For more background information on the U.S. Human Genome Project, see the following
What's a genome? And why is it important?

A genome is all the DNA in an organism, including its genes. Genes carry information for making all
the proteins required by all organisms. These proteins determine, among other things, how the
organism looks, how well its body metabolizes food or fights infection, and sometimes even how it
behaves.

DNA is made up of four similar chemicals (called bases and abbreviated A, T, C, and G) that are
repeated millions or billions of times throughout a genome. The human genome, for example, has
3 billion pairs of bases.

The particular order of As, Ts, Cs, and Gs is extremely important. The order underlies all of life's
diversity, even dictating whether an organism is human or another species such as yeast, rice, or
fruit fly, all of which have their own genomes and are themselves the focus of genome projects.
Because all organisms are related through similarities in DNA sequences, insights gained from
nonhuman genomes often lead to new knowledge about human biology.

What are some of the ethical, legal, and social challenges presented by genetic information, and
what is being done to address these issues?

The Department of Energy and the National Institutes of Health Genome Programs set aside 3% to
5% of their respective annual HGP budgets for the study of the project's ethical, legal, and social
issues (ELSI). Nearly $1 million was spent on HGP ELSI research.

Medicine and the New Genetics

Genetic Disorders Guide

The Human Genome Project (HGP), sponsored in the United States by the Department of Energy
and the National Institutes of Health, has created the field of genomics --understanding genetic
material on a large scale. The medical industry is building upon the knowledge, resources, and
technologies emanating from the HGP to further understanding of genetic contributions to human
health. As a result of this expansion of genomics into human health applications, the field of
genomic medicine was born. Genetics is playing an increasingly important role in the diagnosis,
monitoring, and treatment of diseases.

Diagnosing and Predicting Disease and Disease Susceptibility

All diseases have a genetic component, whether inherited or resulting from the body's response to
environmental stresses like viruses or toxins. The successes of the HGP have even enabled
researchers to pinpoint errors in genes--the smallest units of heredity--that cause or contribute to
disease.

The ultimate goal is to use this information to develop new ways to treat, cure, or even prevent the
thousands of diseases that afflict humankind. But the road from gene identification to effective
treatments is long and fraught with challenges. In the meantime, biotechnology companies are
racing ahead with commercialization by designing diagnostic tests to detect errant genes in people
suspected of having particular diseases or of being at risk for developing them.

An increasing number of gene tests are becoming available commercially, although the scientific
community continues to debate the best way to deliver them to the public and medical
communities that are often unaware of their scientific and social implications. While some of these
tests have greatly improved and even saved lives, scientists remain unsure of how to interpret
many of them. Also, patients taking the tests face significant risks of jeopardizing their
employment or insurance status*. And because genetic information is shared, these risks can
extend beyond them to their family members as well.

*Passing of the 2008 Genetic Information Nondescrimination Act should protect against such
discrimination. May 2008.

Disease Intervention

Explorations into the function of each human gene--a major challenge extending far into the 21st
century --will shed light on how faulty genes play a role in disease causation. With this knowledge,
commercial efforts are shifting away from diagnostics and toward developing a new generation of
therapeutics based on genes. Drug design is being revolutionized as researchers create new classes
of medicines based on a reasoned approach to the use of information on gene sequence and
protein structure function rather than the traditional trial-and-error method. Drugs targeted to
specific sites in the body promise to have fewer side effects than many of today's medicines.

The potential for using genes themselves to treat disease--gene therapy--is the most exciting
application of DNA science. It has captured the imaginations of the public and the biomedical
community for good reason. This rapidly developing field holds great potential for treating or even
curing genetic and acquired diseases, using normal genes to replace or supplement a defective
gene or to bolster immunity to disease (e.g., by adding a gene that suppresses tumor growth).

See an article that speculates about how genetic advances sparked by the Human Genome Project
may affect the practice of medicine in the next 20 years.

Scientists, enabled by the Human Genome Project, are churning out an unprecedented volume of
data on human chromosomes and the tens of thousands of genes residing on them, many
associated with genetic disorders. These data, and many Web sites on human genetic disorders,
are freely accessible on the Internet.

Gene Gateway, originally designed as a Web companion to the popular Human Genome Landmarks
poster, is a collection of guides and tutorials designed to help students and other novice users get
started with some of the resources that make these data available to the public.

This Web site introduces various Internet tools that anyone can use to investigate genetic
disorders, chromosomes, genome maps, genes, sequence data, genetic variants, and molecular
structures.