The specific scientific goals to be achieved were in 7 areas :

1 Mapping and sequencing the human genome

The human genome consists of 50,000 -100,000 genes located on 23 pairs of chromosomes. Genes size are ranging from roughly 2,000 - 2,000,000 base pairs. At that time the methods that were developed only allowed the construction of relatively crude maps with very little detail. To construct detail genetic maps of the human genome they must developed improved technology for mapping and sequencing. So the specific goals in this area are

Complete a fully connected human genetic map with markers spaced an average of 2 to 5 centimorgans apart. Identify each marker by an STS.

Assemble STS maps of all human chromosomes with the goal of having markers spaced at approximately 100,000 base pair intervals.

Generate overlapping sets of cloned DNA or closely spaced unambiguously ordered markers with continuity over lengths of 2 million base pairs for large parts of the human genome.

Improve current methods and/or 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 million base pairs of human DNA in large continuous \line stretches in the course of technology development and validation.

2 Mapping and sequencing of the DNA of model organisms

Study of the biology of model organisms is essential to interpreting data obtained in studies of humans and in understanding human biology. A number of organisms have already been identified as particularly useful models for comparative genetic analyses because their genetics and molecular biology has already been accumulated. Mouse genome is particularly useful for comparisons because of the many biological similarities between the mouse and man. In order to prepare a physical map of the mouse, a genetic map based on DNA markers will need to be created. This will then lead to the development of a physical map that can be directly compared to the human physical map. The specific goals in this area are

Prepare a genetic map of the mouse genome based on DNA markers. Start physical mapping on one or two chromosomes.

Sequence an aggregate of about 20 million base pairs of DNA from a variety of model organisms, focusing on stretches that are one million base pairs long, in the course of the development and validation of new and/or improved DNA sequencing technology.

3 Data collection and distribution

The direct product of the Human Genome Initiative will be genome maps and DNA sequences. Genome databases will need to be comprehensive and up-to-date, and, if there are several databases, it will be imperative that they be effectively linked with one another. Successfully addressing new methods and tools for the analysis and interpretation of genome informatics will require the development of a coordinated national program to make the information and analysis tools from this project readily available to the widest possible range of scientists and physicians in the most useful, timely, and cost-effective manner

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

Ethical, legal and social considerations;controversial uses of the information and capabilities that will flow from the Human Genome Initiative also may emerge. Ethical, legal, and social issues arise in regard to ways of ensuring that this information is used in the most responsible manner. Some of the questions that must be considered concern individual privacy and confidentiality. The NIH and DOE human genome programs will provide for the support of studies that investigate concerns such as these. The program will endeavor to anticipate problems before they arise and develop suggestions for dealing with them that would forestall adverse effects. The approach to accomplishing these objectives will be to

Develop programs addressed at understanding the ethical, legal and social implications of the human genome project. Identify and define the major issues and develop initial policy options to address them.

5 Research training

The Human Genome Initiative is creating the need for a considerable number of scientists and other trained personnel who have the skills to pursue the research goals and apply the information generated by the program. Short courses will also be needed to provide in-depth training in a defined area. These courses could address the need of individuals to enhance their skills in molecular techniques, computational sciences, and ethics or legal studies.

Support research training of pre- and post-doctoral fellows starting in 1990. Increase the numbers 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.

7 Technology development

There is still a need for further innovation to adapt the technology to large scale projects and to bring the costs down. During the next five years, there will be an emphasis on technology development in all areas of the program.

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

8 Technology transfer

Rapid transfer of the technology developed under the human genome program to industries that can develop economically and medically useful applications is a major goal of the project. A variety of mechanisms will be explored for facilitating this transfer, f or improving information flow and for identifying potential blocks to efficient transfer. Transfer of the technology into medical applications will be facilitated where necessary, but will also occur naturally. Many of the scientists supported by the NIH human genome program are physicians or work closely with physicians who are involved in patient care.

Enhance the already close working relationships with industry.

Encourage and facilitate the transfer of technologies and of medically important information to the medical community.

These goals area valuable guide for the research community to

Construct detailed human genetic maps

Improve physical maps of the human genome and the genomes of certain model organisms

Develop improved technology for DNA sequencing and information handling

Define the most urgent set of ethical, legal and social issue associated line with the acquisition and use of large amounts of genetics information
 

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