Sponsored by the U.S. Department of Energy Human Genome Program
Human Genome News Archive Edition
Human Genome News, November 1990; 2(4)
The NIH National Center for Human Genome Research (NCHGR) and the Human Genome Program of the DOE Office of Health and Environmental Research (OHER) held their second annual planning and evaluation retreat August 28-30 in Hunt Valley, Maryland. Members of the NIH-DOE Joint Subcommittee on the Human Genome participated, along with invited consultants from the scientific community. For a list of subcommittee members, see HGN 2(3): 7 (September 1990).
Representatives of various scientific disciplines and professional societies were invited to the meeting to share their views on the Human Genome Project.
The meeting, cochaired by Norton Zinder, Chairman of the NIH Program Advisory Committee on the Human Genome (PACHG), and Sheldon Wolfe, Chairman of the DOE Health and Environmental Research Advisory Committee (HERAC), was held to assess 5-year plan goals in view of progress made during the past year by NIH and DOE genome programs. The group also discussed the scientific community's reaction to the Human Genome Project, communication with the scientific community and congressional committees, budget projections, and evaluation of funding mechanisms to attain project goals.
NCHGR and OHER human genome program representatives presented updates on progress in genetic linkage mapping, physical mapping, informatics, DNA sequencing, and bioethics. Progress in mapping each chromosome was also discussed. Contig maps of chromosomes 16 and 19, being developed at Los Alamos National Laboratory (LANL) and Lawrence Livermore National Laboratory (LLNL), respectively, were estimated to be about 60% complete.
OHER Associate Director David Galas noted that 75% of the DOE genome research budget is spent on programs in DOE national laboratories and the rest on directed research and technology development at U.S. universities or businesses. In contrast, NCHGR Deputy Director Elke Jordan stated that most NCHGR research dollars support projects at universities and businesses, funding a community historically tied to the NIH "R01" grant. NIH typically uses these grants to support smaller, nontargeted, investigator-initiated research projects.
Most consultants agreed that the Human Genome Project goals are achievable and should be pursued and that the 5-year plan is well thought out. The earlier cost estimates of $200 million per year recommended in the 1987 HERAC and the 1988 Office of Technology Assessment and National Research Council/National Academy of Sciences reports were reconfirmed, but inflation factors should be applied in estimating current and future budgets. Discussants said that the genome project has been the target of hostility because it was established at a time when research funds in some other areas had become hard to obtain. The average academic scientist may not fully understand the project and perceives it as a change from "traditional" NIH funding approaches.
NCHGR Director James Watson pointed out that NIH sponsors several well-received directed research programs, particularly in drug development for cancer and AIDS. Most basic research scientists are unaware, he said, that only about 55% of the NIH budget funds investigator-initiated grants. While such research is effective at generating new ideas, participants agreed that other funding mechanisms are often needed to develop those ideas into clinical applications or to coordinate resource sharing among large and small laboratories.
Addressing ways for the federal agencies to achieve genome project goals, the group concluded that investigator-initiated grants alone probably would not meet the 5-year chromosome-mapping goals efficiently and economically and that they would be difficult to coordinate. Because of the variety of research carried out within the genome project, retreat participants supported a mixture of projects that include funding for:
Subcommittee members stressed that the scientific community needs to understand the difficulties faced by researchers who have recently completed postdoctoral training and are trying to compete in human genetics. The prohibitive cost of genetic research could lock young scientists out of the field. Accessible data and improved technologies acquired through the Human Genome Project are expected to empower capable scientists to pursue important research in human genetics.
Small, investigator-initiated grants can play a prominent role in technology development and in providing an entry point for small projects that have the potential to grow into larger ones, the group concluded. If deficit-reduction legislation causes severe budget cuts, the group recommended that these projects be prioritized rather than cut across the board.
Subcommittee members discussed the organization, management, and activities at the multidisciplinary DOE human genome centers. They noted the accomplishments being made in constructing physical maps of chromosomes 16, 19, and 21 and in developing supportive computational capabilities and innovative mapping and sequencing strategies and technologies.
Genome project staff members and consultants exchanged ideas about better ways to communicate with the greater scientific community. They felt that increased efforts should be made to show that the genome project "is going to do some terrific science." More exchange of information with professional societies and participation in their annual meetings were suggested. Consultants also stressed the importance of informing the research community about plans to sequence the genomes of model organisms, particularly those of yeast and Escherichia coli.
Human genome centers are important in outreach efforts, participants agreed, serving as hubs for the scientific community in several ways, including the sharing of reagents and resources generated by their research efforts. Informatics components should be designed to be useful to the greater scientific community, and centers should continue to provide opportunities for interested scientists to train in newly developed technologies.
The meeting concluded with a report on activities supported by Human Genome Organisation (HUGO) Americas. The report was given by Charles Cantor of the DOE Lawrence Berkeley Laboratory (LBL), one of three HUGO vice presidents. HUGO is moving quickly to develop a prototype blueprint for coordinating single-chromosome mapping workshops. Retreat participants recommended that workshop chairs assemble annually to develop the best strategies for chromosome meetings. (For a more detailed article on HUGO, see HUGO Americas Drafts Memorandum.)
Reported by Leslie Fink, Chief
Office of Human Genome Communication
The electronic form of the newsletter may be cited in the following style:
Human Genome Program, U.S. Department of Energy, Human Genome News (v2n4).
The Human Genome Project (HGP) was an international 13-year effort, 1990 to 2003. Primary goals were to discover the complete set of human genes and make them accessible for further biological study, and determine the complete sequence of DNA bases in the human genome. See Timeline for more HGP history.
Published from 1989 until 2002, this newsletter facilitated HGP communication, helped prevent duplication of research effort, and informed persons interested in genome research.