Human Genome Project

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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 were to:

  • 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.

For lessons on the related topic of DNA, follow this link.

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.
  • To understand more read
The Science Behind the Human Genome Project: Understanding the Basics
Facts About Genome Sequencing
Primer: Genomics and Its Impact on Science and Society

What are some practical benefits to learning about DNA?

Knowledge about the effects of DNA variations among individuals can lead to revolutionary new ways to diagnose, treat, and someday prevent the thousands of disorders that affect us. Besides providing clues to understanding human biology, learning about nonhuman organisms' DNA sequences can lead to an understanding of their natural capabilities that can be applied toward solving challenges in health care, agriculture, energy production, environmental remediation, and carbon sequestration.

For more details, see Anticipated Benefits of Human Genome Research.

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.

For an in-depth look at the ELSI surrounding the project, see our suite of ELSI pages.

Where can I learn more about the U.S. Human Genome Project?

Explore the links in the left-hand column including