Published April 1990.
DOE/ER-0452P
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
EXECUTIVE SUMMARY
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.
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