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Mapping Our Genes—Genome Projects: How Big? How Fast?

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Mapping Our Genes—Genome Projects: How Big? How Fast? Mapping Our Genes—Genome Projects: How Big? How Fast? April 1988 NTIS order #PB88-212402 Recommended Citation: U.S. Congress, Office of Technology Assessment, Mapping Our Genes-The Genmne Projects.’ How Big, How Fast? OTA-BA-373 (Washington, DC: U.S. Government Printing Office, April 1988). Library of Congress Catalog Card Number 87-619898 For sale by the Superintendent of Documents U.S. Government Printing Office, Washington, DC 20402-9325 (order form can be found in the back of this report) Foreword For the past 2 years, scientific and technical journals in biology and medicine have extensively covered a debate about whether and how to determine the function and order of human genes on human chromosomes and when to determine the sequence of molecular building blocks that comprise DNA in those chromosomes. In 1987, these issues rose to become part of the public agenda. The debate involves science, technol- ogy, and politics. Congress is responsible for ‘(writing the rules” of what various Federal agencies do and for funding their work. This report surveys the points made so far in the debate, focusing on those that most directly influence the policy options facing the U.S. Congress, The House Committee on Energy and Commerce requested that OTA undertake the project. The House Committee on Science, Space, and Technology, the Senate Com- mittee on Labor and Human Resources, and the Senate Committee on Energy and Natu- ral Resources also asked OTA to address specific points of concern to them. Congres- sional interest focused on several issues: ● how to assess the rationales for conducting human genome projects, ● how to fund human genome projects (at what level and through which mech- anisms), ● how to coordinate the scientific and technical programs of the several Federal agencies and private interests already supporting various genome projects, and ● how to strike a balance regarding the impact of genome projects on international scientific cooperation and international economic competition in biotechnology. OTA prepared this report with the assistance of several hundred experts through- out the world. Their help included interviews with OTA staff, comments on drafts of the report, and sending information to OTA. We want to thank those reviewers and many others who have contributed to making the report more accurate, balanced, and useful. This report is one of many OTA reports related to biotechnology and genetics. Re- cent reports on related topics are Technologies for Detecting Heritable Mutations in Human Beings, New Developments in Biotechnology: 1) Ownership of Human Tissues and Cells, Z) Public Perceptions of Biotechnology, 4) U.S. Investment in Biotechnology, and Human Gene Therapy. JOHN H. GIBBONS u Director .,, Ill OTA Advisory Panel on Mapping the Human Genome LeRoy Walters, Ph.D., Chairman Director, Center for Bioethics Kennedy Institute of Ethics, Georgetown University George F. Cahill, M.D. Mark L. Pearson, Ph.D. Vice President for Scientific Training Director of Molecular Biology and Development E.I. du Pent de Nemours & Co. Howard Hughes Medical Institute George Rose, Ph.D. Susan E. Cozzens, Ph.D. Professor Assistant Professor Department of Biological Chemistry Department of Science and Technology Hershey Medical Center Studies Pennsylvania State University Rensselaer Polytechnic Institute of Technology Margery W. Shaw, M.D., J.D. Tamara J. Erickson, Ph.D. Professor of Health Law Vice President University of Texas Health Science Center Health Industries Dieter Soil, Ph.D. Arthur D. Little, Inc. Professor Joseph G. Gall, Ph.D. Department of Molecular Biophysics and Department of Embryology Biochemistry Carnegie Institution of Washington Yale University Walter B. Goad, Ph.D. Nancy S. Wexler, Ph.D. Theoretical Biology Group president Los Alamos National Laboratory Hereditary Disease Foundation and Associate Professor of Clinical Leroy Hood, Ph.D., M.D. Neuropsychology Chairman Departments of Neurology and Psychiatry Division of Biology Columbia University California Institute of Technology Raymond L. White, Ph.D. Horace Freeland Judson Investigator Henry R. Luce Professor Howard Hughes Medical Institute, and The Writing Seminars Professor The Johns Hopkins University Department of Human Genetics William W. Lowrance, Ph.D. University of Utah School of Medicine Director, Life Sciences and Public Policy Program The Rockefeller University Norman R. Pace, Ph.D. Professor of Biology Department of Biology Inhiana University NOTE: OTA appreciates and is grateful for the valuable assistance and thoughtful critiques provided by the advisory panel members. The panel does not, however, necessarily approve, disapprove, or endorse this report. OTA assumes full responsibility for the report and the accuracy of its contents. OTA Human Genome Project Staff Roger Herdman, Assistant Director, OTA Health and Life Sciences Division Gretchen Kolsrud, Biological Applications Program Manager Robert Mullan Cook-Deegan, Project Director Patricia Hoben, Analyst Jacqueline Courteau, Research Assistant Gladys White, Analyst David Guston, OTA Summer Intern OTA Support Staff Sharon K. Oatman, Admimistrative Assistant Linda S. Rayford, Secretary/Word Processing Specialist Barbara V. Ketchum, Clerical Assistant Editor Blair Burns Potter Graphics MedSciArtCo, Washington, DC Contractors (for list of topics and availability of reports See app. A) Computer Horizons, Inc. Theodore Friedmann, University of California, San Diego Jonathan Glover, New College, Oxford University Allen Hammond, Consultant, Washington, DC John Heilbron, University of California, Berkeley, and Daniel Kevles, California Institute of Technology Horace Freeland Judson, The Johns Hopkins University Marc Lappe, University of Illinois at Chicago Steve Mount, Yale University Teresa Myers, Consultant, Washington, DC Richard Myers, University of California, San Francisco Peter Newmark, London Susan Rosenfeld, Science and the Law Committee, Association of the Bar of the City of New York David Weatherall, Oxford University Akihiro Yoshikawa, Berkeley Roundtable on the International Economy, University of California, Berkeley OTA Staff Reviewem L. Val Giddings Kathi Hanna Lisa Heinz Kevin O’Connor Gary Ellis Mark Schaefer v Contents Page Chapter 1: Summary . 3 Chapter 2: Technologies for Mapping DNA . 21 Chapter 3: Applications to Research in Biology and Medicine. , . 55 Chapter 4: Social and Ethical Considerations . 79 Chapter 5: Agencies and Organizations in the United States . 93 Chapter 6: Organization of Projects . ...115 Chapter 7: International Efforts. .............133 Chapter 8: Technology Transfer . ., . .165 Appendix A: Topics of OTA Contract Reports. , ....179 Appendix B: Participants in OTA Workshops . ..180 Appendix C: Estimated Costs of Human Genome Projects . ...........187 Appendix D: Databases, Repositories, and Informatics . ............189 Appendix E: Bibliometric Analysis of Human Genome Research . ......195 Appendix F: Acknowledgments . .............196 Appendix G: Glossary . ..201 Index. .............207 chapter 1 Summary CONTENTS Debates About Mapping the Human Genome . 4 The Focus of Genome Projects . 7 Misplaced Controversy About “The Human Genome Project” . 9 The Core Issue: Resource Allocation for Research Infrastructure . 10 Organization of This Report . 11 The Role of Congress. 11 Options for Action by Congress . 11 Appropriations to Federal Agencies . 11 Access to Information and Materials . 12 Organization of Genome Projects . 12 Technology Transfer . 15 Questions for Congressional Oversight . 17 Figure Page 1-1. Comparative Scale of Mapping . ‘. , . , 5 Table Table Page 1-1. PrincipalL Organizationsu Involved in Genome Proiects, . 7 Chapter 1 Summary “We want the maximum good per person; but what is good? To one person it is wilder- ness, to another it is ski lodges for thousands. To one it is estuaries to nourish ducks for hunters to shoot at; to another it is factory land. Comparing one good with another is, we usually say, impossible because goods are incommensurable. Incommensurable cannot be compared. Theoretically this may be true; but in real life, inconnnensurables are commensura- ble. All that is needed is a criterion of judgment and a system of weighing.” Garret Hardin, “The Tragedy of the Commons, ” Science 162:1243-1248, 1968. “Congress is the place where we make impossible choices between apples and oranges. We do it every year in preparing the largest budget on the planet.” Congressional staff member, 1988. “All legislative powers granted shall be vested in a Congress of the United States . No money shall be drawn from the Treasury, but in consequence of appropriations made by law. .“ Article 1, U.S. Constitution. The mysteries of inheritance are surrendering consists of long chains of chemicals called nucleo - to modern biology. Over a century ago, Austrian tide bases. There are four such bases, represented monk Gregor Mendel demonstrated that the in- most simply as A, C, T, and G. The order of bases heritance of traits could be most simply explained making up DNA is called its sequence. The DNA if it were controlled by factors passed from one sequence contains the instructions that specify generation to the next. These units of inheritance the production of molecules, usually proteins, that came to be called genes. The complete set of genes provide cellular structure and perform biochem- from an organism is called its genome. Some traits ical functions in the cell. are best explained by inheritance of single genes Our understanding
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