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NOTICE: The project that is the subject of this report was approved by the Governing Board of the National Research Council, whose members are drawn from the councils of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine. The members of the committee responsible for the report were chosen for their special competences and with regard for appropriate balance. In preparing its report, the committee invited people with different perspectives to present their views. Such invitation does not imply endorsement of those views.
This report has been reviewed by a group other than the authors according to procedures approved by a Report Review Committee consisting of members of the National Academy of Sciences, the National Academy of Engineering, and the Institute of Medicine.
This study by the National Research Council's Commission on Life Sciences was sponsored by the National Institutes of Health and the National Science Foundation under contract no. N01-OD-4-2139. Points of view in this document are those of the authors and do not necessarily represent the official position of the sponsoring agencies.
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COMMITTEE ON HUMAN GENOME DIVERSITY
WILLIAM J. SCHULL (Chair)
University of Texas Health Center, Houston, TX
GEORGE J. ANNAS,
Boston University Schools of Medicine and Public Health, Boston, MA
NORMAN ARNHEIM,
University of Southern California, Los Angeles, CA
JOHN BLANGERO,
Southwest Foundation for Biomedical Research, San Antonio, TX
ARAVINDA CHAKRAVARTI,
Case Western Reserve University, Cleveland, OH
VIRGINIA R. DOMINGUEZ,
University of Iowa, Iowa City, IA
GEORGIA DUNSTON,
Howard University, Washington, DC
WARD H. GOODENOUGH,
University of Pennsylvania, Philadelphia, PA
RICHARD R. HUDSON,
University of California, Irvine, CA
ERIC JUENGST,
Case Western Reserve University, Cleveland, OH
MICHAEL M. KABACK,
University of California, San Diego, CA
DANIEL R. MASYS,
University of California, San Diego, CA
KATHRYN MOSELEY,
Henry Ford Hospital, Detroit, MI
ROBERT SOKAL,
State University of New York, Stony Brook, NY
ALAN R. TEMPLETON,
Washington University, St. Louis, MO
LAP-CHEE TSUI,
The Hospital for Sick Children, Toronto, ON, Canada
GEORGE C. WILLIAMS,
State University of New York, Stony Brook, NY
NRC Staff
TANIA WILLIAMS, Study Director
ERIC A. FISCHER, Study Director (through December 1996)
NORMAN GROSSBLATT, Editor
ERIKA SCHUGART, Research Assistant
KATHLEEN BEIL, Project Assistant
PAULETTE A. ADAMS, Senior Project Assistant (through August 1996)
BOARD ON BIOLOGY
MICHAEL T. CLEGG (Chair)
University of California, Riverside, CA
JOHN C. AVISE,
University of Georgia, Athens, GA
DAVID EISENBERG,
University of California, Los Angeles, CA
GERALD D. FISCHBACH,
Harvard Medical School, Cambridge, MA
DAVID J. GALAS,
Darwin Molecular Corporation, Bothell, WA
DAVID GOEDDEL,
Tularik, Incorporated, South San Francisco, CA
ARTURO GOMEZ-POMPA,
University of California, Riverside, CA
COREY S. GOODMAN,
University of California, Berkeley, CA
BRUCE R. LEVIN,
Emory University, Atlanta, GA
OLGA F. LINARES,
Smithsonian Tropical Research Institute, Panama
ELLIOTT M. MEYEROWITZ,
California Institute of Technology, Pasadena, CA
ROBERT T. PAINE,
University of Washington, Seattle, WA
COREY S. GOODMAN,
University of California, Berkeley, CA
RONALD R. SEDEROFF,
North Carolina State University, Raleigh, NC
DANIEL SIMBERLOFF,
Florida State University, Tallahassee, FL
ROBERT R. SOKAL,
State University of New York, Stony Brook, NY
SHIRLEY TILGHMAN,
Princeton University, Princeton, NJ
RAYMOND L. WHITE,
University of Utah, Salt Lake City, UT
Staff
PAUL GILMAN, Acting Director
ERIC A. FISCHER, Director (through December 1996)
TANIA WILLIAMS, Program Officer
KATHLEEN BEIL, Administrative Assistant
ERIKA SHUGART, Research Assistant
COMMISSION ON LIFE SCIENCES
THOMAS D. POLLARD (Chair)
The Salk Institute for Biological Studies, La Jolla, CA
FREDERICK R. ANDERSON,
Cadwalader, Wickersham & Taft, Washington, DC
JOHN C. BAILAR, III,
University of Chicago, IL
PAUL BERG,
Stanford University, Stanford, CA
JOANNA BURGER,
Rutgers University, Piscataway, NJ
SHARON L. DUNWOODY,
University of Wisconsin, Madison, WI
JOHN L. EMMERSON,
Indianapolis, IA
NEAL L. FIRST,
University of Wisconsin, Madison, WI
URSULA W. GOODENOUGH,
Washington University, St. Louis, MO
HENRY W. HEIKKINEN,
University of Northern Colorado, Greeley, CO
HANS J. KENDE,
Michigan State University, East Lansing, MI
CYNTHIA J. KENYON,
University of California, San Francisco, CA
DAVID M. LIVINGSTON,
Dana-Farber Cancer Institute, Washington, DC
DONALD R. MATTISON,
University of Pittsburgh, Pittsburgh, PA
JOSEPH E. MURRAY,
Wellesley Hills, MA
EDWARD E. PENHOET,
Chiron Corporation, Emeryville, CA
MALCOLM C. PIKE,
Norris/USC Comprehensive Cancer Center, Los Angeles, CA
JONATHAN M. SAMET,
The Johns Hopkins University, Baltimore, MD
CHARLES F. STEVENS,
The Salk Institute for Biological Studies, La Jolla, CA
JOHN L. VANDEBERG,
Southwest Foundation for Biomedical Research, San Antonio, TX
Staff
PAUL GILMAN, Executive Director
SOLVEIG PADILLA, Administrative Assistant
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Preface
Over the last three-fourths of this century or so, an enormous body of data has accumulated on the extent of genetic variation among human beings, but most of this information has arisen opportunistically, having been driven by individual investigator initiatives and collected under widely varied conditions. Moreover, the information and samples that have been collected are dispersed in laboratories around the world, and access to them is often difficult. Therefore, it has proved difficult to compare results from different studies, and this difficulty has narrowed the value of the information and samples for the study of many problems of current evolutionary and biologic interest. To remedy those shortcomings, support has been growing in the international scientific community for a worldwide, geographically comprehensive survey of variation in the human genome.
The Committee on Human Genome Diversity, in the Board on Biology of the National Research Council's Commission on Life Sciences, came into being as a result of a request from the National Science Foundation and the National Institutes of Health for the Research Council to assess the scientific value, technical aspects, and organizational requirements of a systematic worldwide survey of human genetic variability and the ethical, legal, and social issues that would be raised by it before the commitment of substantial funds to any survey. The committee was organized in early 1996 and was structured to include members with expertise in all the major fields relevant to the project: population, human, and molecular genetics; evolutionary biology; anthropology (cultural and biologic); biostatistics; informatics; ethics; and law.
In its fact-finding, it became apparent to the committee that the precise
nature of the proposed survey was more elusive than the committee had envisioned; different participants in the formulation of its consensus document had quite different perceptions of the intent of the project and even of its organizational structure. The committee reviewed the consensus document for the proposed Human Genome Diversity Project (HGDP) and was briefed by persons involved in formulating it. The committee found that there was no sharply defined proposal that it could evaluate; as a result, it chose to look at the issues posed by such a global survey of human genetic variation more broadly.
The committee held 4 meetings; at 3, members of the public and persons acting on the public's behalf were invited to discuss the issues with the committee, whereas the fourth was devoted entirely to the writing of this report. To elicit as wide a spectrum of opinions on the merits of the proposed survey as practical, the committee circulated a questionnaire encouraging those who could not attend the public sessions to submit their opinions in writing. Their comments were tabulated and taken into account in the committee's deliberations and this report.
The committee gratefully acknowledges the support of staff of the National Research Council. Eric Fischer and Tania Williams helped to refine the report and contributed to the preparation and administrative work of the project; Norman Grossblatt edited the manuscript; and invaluable support was provided by Kathleen Beil, Erika Shugart, and Paulette Adams.