Human Genome Project
U.S. Department of Energy

Understanding Our Genetic Inheritance The U.S. Human Genome Project; The First Five Years: Fiscal Years 1991-1995

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Cover of Understanding Our Genetic Inheritance.

Understanding Our Genetic Inheritance
The U.S. Human Genome Project

The First Five Years: Fiscal Years 1991-1995

Published April 1990.
NIH Publication No. 90-1590

U.S. Department of Health and Human Services
Public Health Service
National Institutes of Health
National Center for Human Genome Research

U.S. Department of Energy
Office of Energy Research
Office of Health and Environmental Research
Human Genome Program



[Plan Implemented October 1, 1990 (FY 1991)]

This synopsis of goals was taken from the U.S. Department of Energy Human Genome 1991-92 Program Report published June 1992.

1. Mapping and Sequencing the Human Genome

  • Genetic Mapping
    • Complete a fully connected human genetic map with markers spaced an average of 2 to 5 cM apart. Identify each marker by a sequence tagged site (STS).
  • Physical Mapping
    • Assemble STS maps of all human chromosomes with the goal of having markers spaced at approximately 100,000-bp intervals.
    • Generate overlapping sets of cloned DNA or closely spaced unambiguously ordered markers with continuity over lengths of 2 Mb for large parts of the human genome.
  • DNA Sequencing
    • Improve current and develop new methods for DNA sequencing that will allow large-scale sequencing of DNA at a cost of $0.50 per base pair.
    • Determine the sequence of an aggregate of 10 Mb of human DNA in large continuous stretches in the course of technology development and validation.

2. Model Organisms

  • Prepare a mouse genome genetic map based on DNA markers. Start physical mapping on one or two chromosomes.
  • Sequence an aggregate of about 20 Mb of DNA from a variety of model organisms, focusing on stretches that are 1 Mb long, in the course of developing and validating new and improved DNA sequencing technology.

3. Informatics–Data Collection and Analysis

  • Develop effective software and database designs to support large-scale mapping and sequencing projects.
  • Create database tools that provide easy access to up-to-date physical mapping, genetic mapping, chromosome mapping, and sequencing information and allow ready comparison of the data in these several data sets.
  • Develop algorithms and analytical tools that can be used in the interpretation of genomic information.

4. Ethical, Legal, and Social Considerations

  • Develop programs directed toward understanding the ethical, legal, and social implications of Human Genome Project data. Identify and define the major issues and develop initial policy options to address them.

5. Research Training

  • Support research training of pre- and postdoctoral fellows starting in FY 1990. Increase the number of trainees supported until a steady state of about 600 per year is reached by the fifth year.
  • Examine the need for other types of research training in the next year (FY 1991).

6. Technology Development

  • Support automated instrumentation and innovative and high-risk technological developments as well as improvements in current technology to meet the needs of the genome project as a whole.

7. Technology Transfer

  • Enhance the already close working relationships with industry.
  • Encourage and facilitate the transfer of technologies and of medically important information to the medical community.

The Human Genome Initiative 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 focussed 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 initiative, as evidenced by the adoption of this common plan. The National Institutes of Health has a natural interest in the Human Genome Initiative 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.