141. The Human Genome Management Information System: Making Genome Project Science and Implications Accessible

Betty K. Mansfield, Anne E. Adamson, Denise K. Casey, Sheryl A. Martin, Marissa D. Mills, John S. Wassom, Judy M. Wyrick, and Laura N. Yust

Life Sciences Division; Oak Ridge National Laboratory; 1060 Commerce Park; Oak Ridge, TN 37830

bkq@ornl.gov

http://www.ornl.gov/hgmis

The large, multidisciplinary Human Genome Project (HGP)--the effort to find all human genes and characterize a reference human genome--promises to revolutionize the future so profoundly that this century has been dubbed the "biology century." Applications of information and technologies derived from the HGP era of the late 20th century will affect almost everyone. Entirely new approaches to biological research and the practice of medicine and agriculture will be implemented. For an unprecedented understanding of the inner workings of whole biological systems, genetic data will provide the foundation upon which research from many biological subdisciplines will be layered. Because the multidisciplinary research model fostered by the HGP will continue, integrative approaches to understanding complex biological systems are likely to replace the reductionist strategies now prevalent.

Commercialization of numerous applications in genomic science is fueling the burgeoning life sciences economic sector. Legislation and litigation increasingly will be concerned with genetics and the intellectual property issues pertaining to genetic information. Educators, the media, students, and the public need a good understanding of the "new genetics" and its implications to communicate, teach, and help people make related career and personal decisions. Democratizing access to genetic science information should help maximize HGP benefits while protecting against misuse of the data.

Since 1989 the Human Genome Management Information System (HGMIS) has been producing and distributing text on the HGP. This text includes the technical newsletter Human Genome News, progress reports, fact sheets, invited articles in peer-reviewed publications, and the DOE Primer on Molecular Genetics. Using knowledge-management experience gained in this work and in presentations, exhibitions, and judicial meetings, HGMIS initiated and is continually developing and expanding a suite of Web sites for a variety of audiences. Because genomics and the life sciences are becoming so pervasive in all sectors of society, HGMIS seeks to make information accessible to nontechnical audiences as well as to scientists, social scientists, and medical and legal practitioners who need an understanding of genetics to enhance their work and allow them to communicate across disciplines. Human Genome News, for example, contains a unique compilation of resources not found in any discipline-specific publication.

The Human Genome Project Information (HGPI) suite of Web sites, initiated in 1994, now supports some 170,000 unique user sessions and about 500,000 text-file transfers each month. The sites contain more than 2600 files, over 2200 of which are text files. About 3000 other sites link to HGPI and its individual pages. Although HGPI Web pages are presented from the HGP perspective, they extend well beyond the project's primary goals into the technological and societal ramifications of genomic research. HGPI Web pages are primary resources for nearly all major news outlets carrying stories on genomics including CNN, MSNBC, and Yahoo.

HGPI Web pages are updated daily, new pages are added several times a year, and the entire site receives a major overhaul at least annually. HGMIS incorporates constant feedback from HGPI users into the strategy for the sites' ongoing development. Main priorities are to meet user needs for accurate, understandable, and easy-to-locate information relevant to the HGP, its downstream science, and its societal implications.

A sampling of Web pages in the HGPI suite (www.ornl.gov/hgmis):

• Applications of Genome Science to biological research and for societal benefit
• HGP Goals and Progress, including ticker box on home page
• Educator and Student pages
• Images, Posters, and Electronic Presentations
• Medicine and the New Genetics and Genetic Disease Pronto! pages
• Ethical, Legal, and Social Issues including ELSI retrospective and products
• Research in Progress
• Meeting Calendars and Reports
• Chromosome Launchpad
• Publications including the November-December 1999 "Genes and Justice" issue of Judicature
• CERN Virtual Library Genetics
• Frequently Asked Questions and Fact Sheets on such topics as Gene Testing, SNPs, Functional Genomics, Cloning, and DOE Involvement in Genomics Research

Enhancements anticipated over the next few months include:

• Improved navigation incorporating a comprehensive, textbook-style index;
• Page for potential investors in genomics and biomedical sectors of the life sciences industry;
• "Gee Whiz" factoids on genetics;
• Fact sheet on genetically modified foods;
• Updated or new Web page suites for Medicine and the New Genetics, Legal Issues, Media, Education, Research, and Virtual Library Genetics

Because the HGPI sites are increasing in size and usage, HGMIS is implementing a database-facilitated method to update and maintain links to external pages more efficiently and to place Web-transmitted Human Genome News print subscription requests directly in the mailing list database.

HGMIS has distributed more than 210,000 HGP documents, and there are 13,000 print subscribers to Human Genome News. Each month HGMIS staff processes about 100 new print subscriptions and 150 information requests received via e-mail, mail, and telephone.

Web Sites

General: www.ornl.gov/hgmis

Medicine and the New Genetics: www.ornl.gov/hgmis/medicine/medicine.shtml

Research: www.ornl.gov/hgmis/research/research.shtml

Constructive comments are appreciated.

This work is sponsored by the Office of Biological and Environmental Research, U.S. Department of Energy, under contract No. DE-AC05- 96OR22464 with Lockheed Martin Energy Research Corp.

142. DOE Genome Program Coordination and Outreach

Sylvia J. Spengler, Janice L. Mann, and Leonora I. Castro

Lawrence Berkeley National Laboratory, Berkeley, CA 94720

SJSpengler@lbl.gov

The DOE Genome Program of the Office of Biological and Environmental Research (OBER) has developed a number of tools for management of the Program. Among these was the Human Genome Coordinating Committee (HGCC), established in 1988. In 1996, the HGCC was expanded to a broader vision of the role of genomic technologies in OBER programs, and the name was changed to reflect this broadening. The HGCC became the Biotechnology Forum. The Forum is chaired by the Associate Director, OBER.

Specifically, DOE is committed to encouraging the development of the next generation of scientists and engineers. The OBER has identified magnet schools, such as those devoted to science and technology, as a target of opportunity for the initial development and testing of a new program involving DOE program managers, national laboratory scientists, and schools around the country. A broad program includes mentorship in student research projects, summer enrichment programs for teachers at the national laboratories, lecture series by scientists, student summer internships and a technical expertise, as needed. We used Thomas Jefferson High School for Science and Technology (TJHSST) in Alexandria, VA as our first school partner.

In addition, the coordinating group has been deeply involved in the development of the Office of Science Community College Intern Program.

143. DOE Alexander Hollaender Distinguished Postdoctoral Fellowships

Linda Holmes and Wayne Stevenson

Science and Engineering Education Programs; Oak Ridge Institute for Science and Education; Oak Ridge, TN 37831-0117

HOLMESL@ORAU.GOV

The Department of Energy Alexander Hollaender Distinguished Postdoctoral Fellowships were initiated in FY 1986 by the DOE Office of Biological and Environmental Research (OBER) to support research in the life, biomedical and environmental sciences. Fellowships of up to two years are tenable at any DOE, university or private laboratory, if the proposed advisor at that laboratory receives at least $150,000 per year in support from OBER with support continuing throughout the anticipated tenure of the fellow. Fellows receive stipends of $37,500 the first year and $40,500 the second. Eligible applicants must be U.S. citizens or permanent resident aliens and must have received their doctoral or medical degrees within two years of the earliest possible starting date, which is May 1 of the appointment year.

The Oak Ridge Institute for Science and Education (ORISE), administrator of the fellowships for DOE, prepares and distributes program literature to universities and laboratories across the country, accepts applications, convenes a panel to make award recommendations, and issues stipend checks to fellows. The review panel identifies finalists from which DOE chooses the award winners. Up to five awards are made in even numbered years and up to ten in alternate years. The deadline for applications is January 15. For more information or an application packet, contact Kay Ball at Science and Engineering Education Programs, ORISE, MS 36, P.O. Box 117, Oak Ridge, TN 37831-0117; (865) 576-9975; Fax (865) 241-5220.

144. JASON Study on Data Mining and the Human Genome

G. Joyce, H. Abarbanel, C. Callan, W. Dally, F. Dyson, T. Hwa, S. Koonin, H. Levine, O. Rothaus, R. Schwitters, C. Stubbs, and P. Weinberger

JASON Program Office, McLean, VA

gjoyce@scripps.edu

The JASON organization conducted a DOE-sponsored study on bioinformatics and the human genome project. The study sought to explore the problems that must be faced in bioinformatics and to identify information technologies that could help to overcome these problems. While the current influx of data greatly exceeds what biologists have experienced in the past, other scientific disciplines and the commercial sector have been handling much larger datasets for many years. Powerful datamining techniques have been developed in other fields that, with appropriate modification, could be applied to the biological sciences.

Clearly there is a need for more bioinformaticists, as well as computer scientists and engineers who are willing to become involved in bioinformatics research. An ample talent pool already exists from which to recruit these individuals. The DOE can facilitate cross-fertilization between biologists and the non-biological datamining community by sponsoring joint workshops, offering research fellowships to computer scientists who are interested in biological applications, providing access to the unclassified resources of the Advanced Strategic Computing Initiative, and taking advantage of the commercial sector's willingness to make datamining tools freely available to the academic community.

Greater emphasis must be placed on closing the loop between algorithmic analysis and experimental validation. This will require close cooperation between computer scientists and biologists. The DOE should support the development of experimental methods for validating bioinformatics algorithms and the establishment of statistical tests that can be used to assess the robustness of these algorithms. The DOE should take responsibility for ensuring the provenance of the primary data from the major sequencing centers and making that data freely available in a generic database format with minimal annotation.