What is The Human Genome Project?

The Human Genome Project (HGP) is a global scientific research program created to understand the hereditary instructions that make each of us unique. The HGP will create a vast resource of detailed scientific information about the structure, organization and function of human DNA. Scientists at the U.S. Department of Energy (DOE) were the first to envision the project, in 1986, as a project to explore newly developing DNA analysis technologies. By 1988, the National Institutes of Health (NIH) joined the project and a joint effort was formally announced in 1990, officially starting the Human Genome Project. The Department of Energy's Human Genome Program and the National Institutes of Health's National Human Genome Research Institute (NHGRI) together coordinate the HGP. The HGP's original plan was a three billion dollar 15-year project that would be completed in 2005. However, through rapid technological advances, worldwide efforts on the project have greatly accelerated changing the expected completion date to 2003 (making the project a 13-year endeavor). Over one thousandresearchers, including 16 institutions across six nations (the United States, Great Britain, France, Germany, Japan and China) are involved with the HGP.

The demands are great for a successful completion of the ambitious HGP goals. This effort includes working to develop a range of new and innovative technologies, including the establishment of a way to quickly and efficiently distribute the information to all scientists, physicians, and others worldwide so that the results may be rapidly used for the public good. In fact, this will lead to improved technology for biomedical research as an important byproduct of the HGP. From the beginning, it has been clearly recognized that acquiring and using genetic knowledge from the HGP will have significant implications for individuals and for society. The HGP is the first large scientific undertaking to address the ethical, legal, and social issues that may arise from the project. The US government also has a commitment to share the technology with the private sector. By licensing technologies to private companies and awarding grants for innovative research, the project is motivating the biotechnology industry and promoting the development of new medical applications.

Contained in the nucleus of nearly every cell in the human body is a complex set of genetic instructions, known as the human genome. The Genome is composed of 23 pairs of chromosomes—long chains of a chemical called DNA. Each chromosome carries thousands of genes—short segments of DNA. The DNA molecule is the basic unit of inherited instructions that tell cells how to behave.

What are the overall goals of the HGP?

The Human Genome Project has several goals, which include mapping, sequencing, and identifying genes, storingand analyzing data, and addressing the ethical, legal, and social issues (ELSI) that may arise from availability of personal genetic information. Mapping is the construction of a series of chromosome descriptions that depict the position and spacing of genes, which are on the DNA of chromosomes. The ultimate goal of the Human Genome Project is to decode, letter by letter, the exact sequence of all 3.2 billion nucleotide bases that make up the human genome. This means constructing detailed genetic and physical maps of the human genome. Besides determining the complete nucleotide sequence of human DNA, this includes locating the genes within the human genome. The HGP agenda also includes analyzing the genomes of several other organisms (including E. coli, the fruit fly, and the laboratory mouse) that are used extensively in research laboratories as model systems. Studying the genetic makeup of non-human organisms will help in understanding and deciphering the human genome. Although in recent months the leaders of the HGP announced that a “working draft” of the human Genome has been completed, the hope is to have a complete, error-free, final draft by 2003—coincidentally, the 50^th anniversary of the discovery of DNA's molecular structure.

Summary of basic HGP goals:

• Identify all estimated 50,000-100,000 genes in human DNA
• Determine sequence of 3 billion chemical bases that make up human DNA
  • Human DNA sequence goals:
    • Achieve coverage of at least 90% of Genome in working draft by the end of 2001—(moved up to spring 2000) - Goal Reached -
    • Finish one-third of the human Genome sequence by end of 2001
    • Finish complete human Genome sequence by end of 2003
    • Make sequence totally and freely accessible
• Store information in databases
• Develop faster, more efficient sequencing technologies
• Develop tools for data analysis
• Map genomes of select non-human organisms
• Address ethical, legal, and social issues (ELSI) that may arise from project