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The First Five Years: Fiscal Years 1991-1995

IV. IMPLEMENTATION

A. Administration of Research

1. Management Systems

A number of management devices have been put into place to facilitate the administration of the human genome program. Both NIH and DOE have advisory and coordinating committees that provide overall planning and advice. These advisory committees have established a number of working groups to study in detail specific aspects of the program. Such working groups will be created as needed and will terminate as their work is complete.

A newsletter available to all interested parties has been started by the DOE. In the future, this newsletter will be published jointly by NIH and DOE. DOE and NIH will also make available an electronic bulletin board for rapid dissemination of information. Finally, an administrative database will be set up to capture information on genome research worldwide and will enable us to track progress towards program goals. Cooperation between both agencies is planned for all these projects.

2. Role of Research Centers

Attaining the goals of the Human Genome Initiative will require research programs of varying magnitude and complexity. This nation's pre-eminent achievement in biomedical research is rooted in the traditional decentralized system of support for projects initiated by single investigators and small groups of scientists. Projects of this scope will contribute significantly to the U.S. human genome program and will continue to represent a substantial fraction of the overall funding.

Many of the scientific projects envisioned as part of the genome program, however, can only be addressed by teams of investigators from various disciplines working collaboratively. For the research to proceed efficiently, sharing and exchange of equipment and other resources will be necessary, as well as coordinated collection and analysis of data.

The DOE has already established three genome centers within its National Laboratories. These centers are multidisciplinary and each has chosen specific human chromosomes as the focus for an intense and comprehensive effort of physical mapping. The centers also are engaged in the development of sequencing technology, informatics research, and studies of other novel technologies expected to contribute to the genome project. Each center has developed extensive collaborative networks with academia and with industry.

Starting in FY 1990, the NIH human genome program will also provide funding for the establishment and support of genome research centers. These centers will consist of groups of investigators from diverse disciplines who wish to come together to tackle a project they could not accomplish otherwise. Both academic institutions and industrial organizations will be eligible to compete for research center grants.

Research centers will be expected to address a major task of the genome project. For example, some centers may focus on the development of the complete physical map of a human chromosome, others on the sequencing of the complete genome of a model organism, or on the development and application of a particular technology. Research centers can provide a stable environment for large, long-term projects and facilitate the recruitment of new investigators into the program. Such centers also provide an excellent vehicle for collaborations with investigators who are not part of the center and with industry. It is expected that research centers will stimulate the coalescence of individual research efforts into collaborative networks.

In the next five years NIH expects to establish, depending on their size, ten to twenty research centers in various academic, non-profit and for-profit institutions. The funding of three centers is anticipated in fiscal year 1990. DOE may also establish additional centers in the National Laboratories.

3. Construction

Many of the institutions that have the strongest genome research programs suffer from lack of laboratory space available for expansion of these projects. The space limitation is both in the amount and kind of facilities needed for the specialized interdisciplinary activities involved, such as robotics and instrument development tied closely to biological activities. This is a serious problem that could delay progress at an optimal rate. Both NIH and DOE advisors have strongly urged the agencies to seek authority and funds for construction.

4. Workshops and Meetings

Because they will tie all research components together, research centers will in some sense represent the administrative centerpiece of the genome project. However, centers alone will not be sufficient. Another important administrative device is the organization of a variety of workshops and meetings designed to facilitate collaboration, assess the state of the art in a particular area and determine what actions are needed next.

A number of such workshops have been held in the past two years, with excellent success. For example, human chromosome-based workshops have been held for chromosomes 11,16, and X. Workshops on the human genetic map and on physical mapping databases have also taken place. In November, 1989, DOE held the first contractor/grantee workshop for investigators supported by its human genome program. In addition, meetings to begin organizing work on some of the model systems are underway for the mouse, drosophila, and yeast.

Some of these workshops were sponsored jointly by NIH and DOE, with contributions in several cases from the Howard Hughes Medical Institute. All the workshops included participants from around the world. In each case there were a number of positive outcomes. Along with the exchange of information between investigators, mechanisms for the exchange of materials were established, collaborations were initiated, and agreements were reached on more uniform approaches among the different laboratories. As a result, greater efficiency on all the projects is anticipated.

Meetings of scientists with common research objectives will play an increasingly important role in terms of the coordination of the genome project. It is anticipated that mapping and sequencing groups will eventually coalesce around individual human chromosomes or around a model organism. This appears at present to be the most logical and effective way to organize the project. However, such organization must evolve based on the commitment and efforts of individual scientists and cannot be centrally dictated at this early stage. Eventually, groups that assume leadership in each of these areas will emerge. In order to encourage coalescence, annual meetings of particular groups will be required in many cases. Both DOE and NIH will continue to organize and promote such workshops.

B. Role of NIH and DOE

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. In recognition of these complementary interests, NIH and DOE have agreed to coordinate their individual genome activities.

1. National Institutes of Health

The human genome program of the National Institutes of Health was formally established after Congress appropriated earmarked funds to NIH in fiscal year 1988 to conduct research on mapping and sequencing of the human genome.

In October 1988, the Office of Human Genome Research was established to plan and coordinate NIH genome activities in cooperation with other federal agencies, industry, academia and international groups. As of October 1, 1989, the office became an independent funding unit within the NIH with authority to award grants and contracts and was renamed the National Center for Human Genome Research.

To provide ongoing advice from scientific experts and industry representatives, NIH established a permanent Program Advisory Committee on the Human Genome (PACHG) and, because virtually all of the institutes of NIH are involved in research that interacts with the human genome program, an internal NIH Coordinating Committee on the Human Genome also was formed.

While most of the research supported by the NIH genome program will take place at academic, non-profit or for-profit institutions across the country, relevant intramural studies also will be considered for funding under the program.

2. U.S. Department of Energy

The genome program of the Department of Energy started in fiscal year 1987 on a small scale and received earmarked funds for the first time in the fiscal year 1988 appropriation.

DOE's genome activities are represented mainly by multidisciplinary programs under way at three National Laboratories: Lawrence Berkeley Laboratory; Los Alamos National Laboratory; and Lawrence Livermore National Laboratory. Additional projects are supported at other National Laboratories, at universities and in the private sector.

Oversight of DOE human genome activities is provided by the Health and Environmental Research Advisory Committee (HERAC). The Office of Health and Environmental Research (OHER), assisted by a steering committee representing the three National Laboratories and extramural grantees, manages the program and administers grants and contracts.

3. Memorandum of Understanding

Mechanisms for the coordination of human genome activities between DOE and NIH are specified in a 1988 Memorandum of Understanding. A joint advisory subcommittee was established to monitor and coordinate programs. Furthermore, there is extensive formal and informal interagency contact between program administrators. Panels convened by DOE or NIH to review genome research proposals, to assist in program coordination or to provide advice, are attended by representatives of both agencies, and regular joint workshops and meetings on genome-related issues are held.

The NIH and the DOE have had an excellent working relationship with regard to the human genome program in the past and expect that this relationship will become even closer and more useful in the future. The establishment of a joint informatics task force, a joint working group on ethical, legal, and social issues, and a joint mapping working group, in addition to the joint advisory subcommittee called for in the MOU, attest to the close cooperation. Additional joint working groups will be established as needed. Each of these groups will provide information and advice to the parent advisory committees of both agencies.

In August, 1989, a group of NIH and DOE advisors met together with selected other experts to develop a joint plan for the genome project for the next five years. This plan was approved by the advisory committees of both agencies. Each agency will implement its genome program according to this overall scheme. Because of the success of the joint planning exercise and the need for frequent updates, the two agencies will repeat this process at regular intervals to assure continued close coordination.

Although there are areas of overlapping interest between DOE and NIH, there are also clear areas of distinction, based on the respective agency's interests and strengths. The following highlights major similarities and differences.

• Both agencies are interested in the physical map of the human genome as well as in the development of sequencing technology. These are very large objectives that will require strong efforts by both agencies. Since the methods for achieving this goal are still under development and rapidly changing, multiple parallel approaches are necessary and desirable. To this area the DOE brings extensive expertise in technology development and computer sciences, while NIH brings a wealth of biological and medical expertise. The combination of these approaches through collaboration is most likely to lead to the best results.
• The NIH genome program includes the study of the genomes of model organisms. These studies will contribute to technology development and to the interpretation of the human DNA sequence.
• NIH is devoting considerable effort to the completion of the human genetic map, which makes an important contribution to physical mapping and sequencing, and constitutes a valuable tool for scientists seeking to identify and eventually isolate disease genes.
• NIH and DOE will share responsibility for dealing with the ethical, legal, and social implications of the genome project.
• NIH is taking major responsibility for funding public databases, such as GenBank, that will be the ultimate repositories for information generated by the project. This is an area within the congressional mandate of the recently created National Center for Biotechnology Information (NCBI) of the National Library of Medicine. The National Center for Human Genome Research will collaborate with NCBI in this area.
• Both DOE and NIH are vigorously pursuing the development of electronic notebooks, algorithms for analyzing DNA sequences and the development of physical mapping and other databases that are closely integrated with research protocols and required to accomplish the work.
• NIH will support a comprehensive training program for pre-doctoral, post-doctoral, and senior investigators, as well as a career development program. These programs will address current and future needs of genomics research.
• DOE will provide support for pre-doctoral and post-doctoral individuals training at the National Laboratories.
• The medical applications of genomic research will be a special strength of the NIH program. Although these are not part of the immediate objectives of the genome project, which is focused on producing basic mapping and sequencing information, most of the investigators supported by NIH are closely tied to the medical research community or are themselves conducting such studies along with their genomic research.
• DOE, which has close ties with the physics, computation, and engineering communities, will emphasize the transfer of technology in these areas.

While the list of similarities and differences is instructive for showing the great diversity of activities that are included in the genome project, the key to the DOE-NIH relationship is the fact that both agencies are working from the same blueprint. Over the past two years a great deal of synergism has developed between the two agencies, with productive collaborations established between DOE laboratories, NIH supported investigators and industry.

C. Role of other Federal Agencies

Because the information to be derived from mapping and sequencing the human genome will be of very broad interest and applicability, a number of other federal agencies are involved in funding and carrying out activities related to the Human Genome Initiative.

1. National Science Foundation

The National Science Foundation (NSF) is interested in the support of projects focused on the scientific infrastructure for genome-related activities. Specific NSF activities have included funding in FY 1989 of a science and technology center dedicated to new technologies for DNA and protein chemistry. NSF is also involved in development of new software and algorithms for database searching and development of special purpose hardware to increase the speed of biological database searches. Recently, the NSF decided to start a program for mapping and sequencing the genome of the model plant system Arabidopsis thaliana in collaboration with NIH and other agencies. This system will be an excellent one for developing and testing technology. NSF representatives regularly attend the NIH advisory committee and DOE steering committee meetings as liaison members to assure coordination of the programs.

2. U.S. Department of Agriculture

A growing interest in mapping and sequencing the genomes of plants important to agriculture and forestry led the USDA to establish an Office of Genome Mapping after a planning conference in December 1988. A coordinating committee was formed to devise the goals and scope of USDA's plant genome efforts, which are planned to extend over 10 years at an estimated cost of $500 million. Plant genes that display pest and disease resistance as well as drought tolerance, along with other gene systems of economic importance, will be selected for mapping and sequencing.

The USDA's Agricultural Research Service also has an active animal science division that is interested in genome research. This is expected to be a growing area within USDA.

A liaison member from the USDA attends the NIH Program Advisory Committee meetings and the DOE Human Genome Steering Committee meetings and NIH and DOE staff have attended the various USDA planning meetings. As the USDA program proceeds, closer ties will be established.

D. Howard Hughes Medical Institute

The Howard Hughes Medical Institute (HHMI) has played an important role in supporting research and databases of importance to the genome project. Both DOE and NIH have worked with HHMI to coordinate activities and a representative of HHMI has attended almost all functions sponsored by one or both of the agencies. HHMI has been able to identify a role for itself in areas that are difficult for federal agencies to support, such as the critical funding provided to help the Human Genome Organization (HUGO) get started (also see below).

E. International Collaboration

The Human Genome Initiative is not limited to the United States. Many countries are interested in participating in the project and all are interested in the outcome. Programs with funding are currently underway in the United Kingdom (UK), Italy, and the Soviet Union. Funding is expected in the near future from the Commission of the European Community (EC), France, and Japan. However, all these programs are small compared to the U.S. program and are currently in the early stages of organization.

An association of interested scientists from around the world has been formed and incorporated as the Human Genome Organization. This organization plans to develop a number of activities to assist with the international coordination of the various national programs.

While NIH and DOE support HUGO and believe it could be most helpful as a facilitator, international interaction is already proceeding well. Individual investigators have formed numerous collaborations across national lines, almost all genome meetings are international in scope, and the staff responsible for the management of the various national programs have established good lines of communication.

For example, NIH staff has been represented at meetings of the EC Working Party and planning meetings in the UK. Both NIH and DOE representatives have attended planning meetings in Italy, Spain, the USSR, and Japan. The EC Working Party and the Medical Research Council in the UK, as well as Canada, have sent representatives to the NIH Program Advisory Committee meetings.

NIH and DOE have a policy of welcoming international collaboration in the basic research aspects of the human genome project. Because it is desirable to encourage other countries to contribute financially to this project, the agencies have decided that they will, in general, not fund a foreign research project unless it will make a unique contribution that cannot readily be duplicated in the U.S. The agencies will, however, fund joint research projects between the U.S. and another country if there is also joint funding from the other country.

There are many opportunities where international collaboration could enhance progress on the Human Genome Initiative. Currently, the U.S. is in a leadership position with respect to scientific accomplishment and organization of the genome program. However, as other nations organize and initiate their programs, the U.S. will stand to gain by international collaboration as much as the other countries involved.

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File posted April 3, 1995.

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