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Countries with genome programs or
strong programs in human genetics include Australia, Brazil, Canada, China,
Denmark, European Union, France, Germany, Israel, Italy, Japan, Korea,
Mexico, Netherlands, Russia, Sweden, United Kingdom, and United
States.
Extraordinary advances in genome research are due to contributions by many investigators in this country and abroad. In the United States, such research (including non-human) also is funded by other federal agencies and private foundations and groups. Many countries are major contributors to the project through international collaborations and their own focused programs.Coordinating and facilitating these diverse research efforts around the world is the aim of the non-governmental international Human Genome Organisation.
Some details of U.S. and worldwide coordination are provided below.
U.S. Human Genome Project: DOE and NIH
In 1988 DOE and NIH developed a Memorandum of Understanding that formalized the coordination of their efforts to decipher the human genome and thus "enhance the human genome research capabilities of both agencies." In early 1990 they presented Congress with a joint plan, Understanding Our Genetic Inheritance, The U.S. Human Genome Project: The First Five Years (19911995). Referred to as the Five-Year Plan, it contained short-term scientific goals for the coordinated, multiyear research project and a comprehensive spending plan. Unexpectedly rapid progress in mapping prompted early revision of the original 5-year goals in the fall of 1993 [Science 262, 4346 (October 1, 1993)]. Current goals run through September 30, 1998; text of both 5-year plans is accessible via the Web.
DOE and NIH have adopted a joint policy to promote sharing of genome data and resources for facilitating progress and reducing duplicated work. (See Appendix B: DOE-NIH Sharing Guidelines.)
ELSI Considerations
NIH and DOE devote at least 3% of their respective genome program budgets
to identifying, analyzing, and addressing the ELSI considerations surrounding
genome technology and the data it produces. The DOE ELSI component focuses
on research into the privacy and confidentiality of personal genetic information,
genetics relevant to the workplace, commercialization (including patenting)
of genome research data, and genetic education for the general public and
targeted communities. The NIH ELSI component supports studies on a range
of ethical issues surrounding the conduct of genetic research and responsible
clinical integration of new genetic technologies, especially in testing
for mutations associated with cystic fibrosis and heritable breast, ovarian,
and colon cancers.
In 1990, the DOE-NIH Joint ELSI Working Group was established to identify, address, and develop policy options; stimulate bioethics research; promote education of professional and lay groups; and collaborate with such international groups as the Human Genome Organisation (HUGO); United Nations Educational, Scientific, and Cultural Organization; and the European Community. Research funded by the U.S. Human Genome Project through the joint working group has produced policy recommendations invarious areas. In May 1993, for example, the DOE-NIH Joint ELSI Working Group Task Force on Genetic Information and Insurance issued a report with recommendations for managing the impact of advances in human genetics on the current system of healthcare coverage. In 1996, the working group released guidelines for investigators on using DNA from human subjects for large-scale sequencing projects. The guidance emphasizes numerous ways to preserve donor anonymity [see Appendix C and the World Wide Web].
In 1997, following an evaluation, the two agencies modified the ELSI working group into the ELSI Research and Program Evaluation Group (ERPEG). ERPEG will focus more specifically on research activities supported by DOE and NIH ELSI programs.
Other U.S. Programs
The potential impact of genome research on society and the rapid growth of the biotechnology industry have spurred the initiation of other genome research projects in this country and worldwide. These projects aim to create maps of the human genome and the genomes of model organisms and several economically important microbes, plants, and animals.
· The DOE Microbial Genome Program, begun in 1994, is producing complete genome sequence data on industrially important microorganisms, including those that live under extreme environmental conditions. The sequences of several microbial genomes have been completed.
· In 1990, the National Science Foundation, DOE, and the U.S. Department of Agriculture (USDA) initiated a project to map and sequence the genome of the model plant Arabidopsis thaliana. The goal of this project is to enhance fundamental understanding of plant processes. In 1996, the three agencies began funding systematic, large-scale genomic sequencing of the 120-megabase Arabidopsis genome, with the goal of completing it by 2004, with DOE support through the Office of Basic Energy Sciences.
· USDA also funds animal genome research projects designed to obtain genome maps for economically important species (e.g., corn, soybeans, poultry, cattle, swine, and sheep) to enable genetic modifications that will increase resistance to diseases and pests, improve nutrient value, and increase productivity.
· The Advanced Technology Program (ATP) of the U.S. National Institute of Standards and Technology promotes industry-government partnerships in DNA sequencing and biotechnology through the Tools for DNA Diagnostics component. DOE staff participates in the ATP review process (see below left).
· In 1997 the NIH National Cancer Institute established the Cancer Genome Anatomy Project (CGAP) to develop new diagnostic tools for understanding molecular changes that underlie all cancers. DOE researchers are generating clone libraries to support this effort.
International Collaborations
The current DOE-NIH Five-Year Plan commends the "spirit of international cooperation and sharing" that has characterized the Human Genome Project and played a major role in its success. Cooperation includes collaborations among laboratories in the United and abroad as well as extensive sharing of materials and information among genome researchers around the world. The DOE Human Genome Program supports many international collaborations as well as grantees in several foreign institutions.
Collaborations involving the DOE human genome centers include mapping chromosomes 16 and 19, developing resources, and constructing the human gene map from shared cDNA libraries. These libraries were generated by the Integrated Molecular Analysis of Gene Expression (called IMAGE) Consortium initiated by groups at Lawrence Livermore National Laboratory, Columbia University, NIH National Institute of Mental Health, and Généthon (France).
Investigators from almost every major sequencing center in the world met in Bermuda in February1996 and again in 1997 to discuss issues related to large-scale sequencing. These meetings were designed to help researchers coordinate, compare, and evaluate human genome mapping and sequencing strategies; consider new sequencing and informatics technologies; and discuss release of data.
Human Genome Organisation
Founded by scientists in 1989, HUGO is a nongovernmental international
organization providing coordination functions for worldwide genome efforts.
HUGO activities range from support of data collation for constructing genome
maps to organizing workshops. HUGO also fosters exchange of data and biomaterials,
encourages technology sharing, and serves as a coordinating agency for
building relationships among various government funding agencies and the
genome community.
HUGO offers short-term (2- to 10-week) travel awards up to $1500 for investigators under age 40 to visit another country to learn new methods or techniques and to facilitate collaborative research between the laboratories.
HUGO has worked closely with international funding agencies to sponsor single-chromosome workshops (SCWs) and other genome meetings. Due to the success of these workshops as well as the shift in emphasis from mapping to sequencing, DOE and NIH began to phase out their funding for international SCWs in FY1996 but encouraged applications for individual SCWs as needed. In 1996, HUGO partially funded an international strategy meeting in Bermuda on large-scale sequencing. Principles regarding data release and a resources list developed at the meeting are available on the HUGO Web site.
Membership in HUGO (over 1000 people in more than 50 countries) is extended to persons concerned with human genome research and related scientific subjects. Its current president is Grant R. Sutherland (Adelaide Women and Children's Hospital, Australia). Directed by an 18-member international council, HUGO is supported by grants from the Howard Hughes Medical Institute and The Wellcome Trust.