Scientific Five-Year Goals of the U.S. Human Genome Project from the NIH-DOE Five Year 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.