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The following text is from UNDERSTANDING OUR GENETIC INHERITANCE: THE U.S. HUMAN GENOME PROJECT, The First Five Years: Fiscal Years 1991-1995, published April 1990. DOE/ER-0452P, NIH Publication No. 90-1590.

The Human Genome Project is a worldwide research effort with the goal of analyzing the structure of human DNA and determining the location of the estimated 100,000 human genes. In parallel with this effort, the DNA of a set of model organisms will be studied to provide the comparative information necessary for understanding the functioning of the human genome. The information generated by the human genome project is expected to be the source book for biomedical science in the 21st century and will be of immense benefit to the field of medicine. It will help us to understand and eventually treat many of the more than 4000 genetic diseases that afflict mankind, as well as the many multifactorial diseases in which genetic predisposition plays an important role.

A centrally coordinated project focused on specific objectives is believed to be the most efficient and least expensive way of obtaining this information. In the course of the project much new technology will be developed to facilitate a broad range of biological and biomedical research, bring down the cost of many experiments, and find application in numerous other fields. The basic data produced will be collected in electronic databases that will make the information readily accessible in convenient form to all who need it.

This report describes the plans for the U.S. human genome project and updates those originally prepared by the Office of Technology Assessment (OTA) and the National Research Council (NRC) in 1988. In the intervening two years, improvements in technology for almost every aspect of genomics research have taken place. As a result, more specific goals can now be set for the project.

Five-year goals have been identified for the following areas, which together encompass the human genome project:

• Mapping and Sequencing the Human Genome
• Mapping and Sequencing the Genomes of Model Organisms
• Data Collection and Distribution
• Ethical, Legal, and Social Considerations
• Research Training
• Technology Development
• Technology Transfer

This plan sets out specific scientific goals to be achieved in the first five years together with the rationale for each goal. The specific goals will be reviewed annually and updated as further advances in the underlying technology occur.

The plan presented here was prepared jointly by the National Institutes of Health (NIH) and the Department of Energy (DOE), the two agencies that have received funding earmarked for the human genome project. Over the past two years, these agencies have developed a highly synergistic and well-integrated approach to carrying out this Project, as evidenced by the adoption of this common plan. The National Institutes of Health has a natural interest in the Human Genome Project in view of its long history of supporting research in genetics and molecular biology as an integral part of its mission to improve the health of all Americans. The Department of Energy has a long-standing program of genetic research directed at improving the ability to assess the effects of radiation and energy-related chemicals on human health.

To achieve the scientific goals set out in this report, a number of administrative measures have been put in place. In addition, a newsletter, an electronic bulletin board, a comprehensive administrative database, and other communications tools are being set up to facilitate communication and tracking of progress.

Research centers will be established to promote the collaboration of investigators from diverse disciplines on a major task of the genome program. DOE has already established three large centers in its National Laboratories and NIH will establish 10 to 20 additional centers over the next five years. The centers will become foci for collaboration with investigators at other locations and with industrial organizations that want to develop applications of the research results, thereby creating networks of interrelated projects.

Meetings and workshops will be organized to bring together investigators with common research objectives and to encourage collaboration, exchange of materials and use of common starting materials or protocols wherever these are appropriate. It is expected that mapping and sequencing groups will coalesce around individual human chromosomes or around particular model organisms.

NIH and DOE will continue their synergistic working relationship and will also interact closely with other interested agencies, as well as with genome mapping programs in other countries as they get organized. Close ties with industry and with the medical community have been established, and will continue to be encouraged, to ensure efficient technology transfer. The private sector is involved in this project at all levels from participation in the advisory committees to receipt of grants and contracts.

The overall budget needs for the effort are still anticipated to be the same as those identified by the OTA and the NRC, namely about $200 million per year for approximately 15 years. Fiscal years 1988 to 1990 have been a period for getting organized and getting research under way. The five-year goals specified in this plan are for the period FY 1991 through FY 1995 and assume the program will rapidly reach the level of funding specified above.

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