Welcome to BASE21

Writer: Moon Jung-a

The Human Genome Project (HGP) is an international research program designed to construct detailed genetic and physical maps of the human genome, to determine the complete nucleotide sequence of human DNA, to localize the estimated 50,000-100,000 genes within the human genome, and to perform similar analyses on the genome of several other organisms used extensively in research laboratories as model systems. The scientific products of the HGP will comprise a resource of detailed information about the structure, organization and function of human DNA, information that constitutes the basic set of inherited "instructions" for the development and functioning of a human being. Successfully accomplishing these ambitious goals will demand the development of a variety of new technologies. It will also necessitate advanced means of making the information widely available to scientists, physicians, and others in order that the results may be rapidly used for the public good. Improved technology for biomedical research will thus be another important product of the HGP. From the inception of the HGP, it was clearly recognized that acquisition and use of such genetic knowledge would have momentous implications for both individuals and society, and would pose a number of policy choices for public and professional deliberation. Analysis of the ethical, legal, and social implications of genetic knowledge, and the development of policy options for public consideration are therefore yet another major component of the human genome research effort.

When did the HGP begin?

The HGP was conceived in the mid-1980's and was widely discussed within the scientific community and public press through the latter half of that decade.
In the United States, the Department of Energy (DOE) initially, and the National Institutes of Health (NIH) soon thereafter, were the main research agencies within the U.S. government responsible for developing and planning the project. By 1988, the two agencies were working together, a relationship that was formalized by the signing of a Memorandum of Understanding to "coordinate research and technical activities related to the human genome." The initial planning process culminated in 1990 with the publication of a joint research plan, "Understanding Our Genetic Inheritance: The U.S. Human Genome Project. The First Five Years FY 1991-1995."

What are the goals of the HGP?

The initial research plan set out specific goals for the first five years (1990-1995) of what was projected to be a fifteen-year research project, and focused the efforts of the research community on the most important initial objectives. Because progress was more rapid than anticipated, the 1990 plan was updated in 1993 by extending the initial goals and scope of genome research. The new goals were publicly presented in an article in Science. These goals were also a joint NIH-DOE effort and covered Fiscal Years 1994-1998.
In 1998 another NIH-DOE 5-year plan was developed to cover the completion of the original objectives of sequencing the human genome, and to expand the HGP to the study of genetic variation and functional analysis of the genome. This plan was also published in Science. (Science. 282: 682-689; October 23, 1998.)

How is the HGP managed at NIH?

The National Human Genome Research Institute (NHGRI) supports research projects aimed at accomplishing the goals of the HGP at universities and research institutions across the U.S. The development and management of these projects are carried out by the NHGRI's Division of Extramural Research (DER). The DER, with advice from the extramural research community and the National Advisory Council for Human Genome Research, sets the scientific priorities for HGP research and supports and manages the peer reviewed research projects that address these priorities.

What Is ELSI?

The planners of the U.S. Human Genome Project (HGP) recognized that the information gained from mapping and sequencing the human genome would have profound implications for individuals, families, and society. While this information would have the potential to dramatically improve human health, they realized that it would also raise a number of complex ethical, legal and social issues. How should this new genetic information be interpreted and used? Who should have access to it? How can people be protected from the harm that might result from its improper disclosure or use?
To address these issues, the Ethical, Legal and Social Implications (ELSI) Program was established as an integral part of the HGP. The ELSI Program was designed to provide a new approach to scientific research by identifying, analyzing and addressing the ethical, legal and social implications of human genetics research at the same time that the basic scientific issues are being studied. In this way, problem areas can be identified and solutions developed before the scientific information gained is integrated into health care practice.
The ELSI Program is viewed as essential to the success of the genome project in the United States and is supported with federal HGP funds. The National Institutes of Health's National Human Genome Research Institute (NHGRI) has committed 5 percent of its annual research budget to study ELSI issues. The U.S. Department of Energy Office of Energy Research, NHGRI's partner in the U.S. Human Genome Project, also reserves a portion of its funding for ELSI research and education.