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THE GENOMIC
REVOlUTION
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At GENOM~C
REVOLUTION
UNVEIIING
THE UNITY OF IIFE
Michael Yuclell and Robert DeSalle, Eclitors
JOSEPH HENRY PRESS
WASHINGTON, DC
with the
AMERICAN MUSEUM OF NATURAL HISTORY
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Joseph Henry Press · 2101 Constitution Avenue, N.W. · Washington, D.C. 20418
The Joseph Henry Press, an imprint of the National Academy Press, was created
with the goal of making books on science, technology, and health more widely
available to professionals and the public. Joseph Henry was one of the founders
of the National Academy of Sciences and a leader in early American science.
Any opinions, findings, conclusions, or recommendations expressed in this
volume are those of the author and do not necessarily reflect the views of the
National Academy of Sciences or its affiliated institutions.
Library of Congress Cataloging-in-Publication Data
The genomic revolution: unveiling the unity of life / Michael Yudell
and Robert DeSalle, editors.
p.; cm.
Includes bibliographical references and index.
ISBN 0-309-07436-3 talk. paper)
1. Genetics Popular works. 2. Human genome Popular works.
[DNLM: 1. Human Genome Project. 2. Genome, Human. 3. Genetics
Biochemical methods. QH 447 G33608 2002] I. Yudell, Michael. II.
DeSalle, Rob.
QH437 .G46 2002
611'.01816 dc21
2002004016
Copyright 2002 by the American Museum of Natural History. All rights reserved.
Printed in the United States of America.
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Foreword
Ellen V. Putter
Preface
Contents
Making the Genome Public
Michael Yudell and Rob DeSalle
Part I
Genome Science and the New Frontier
Introduction
Nicholas Wade
ix
xiii
1
15
v
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vi CONTENTS
What Does Knowing About Genomes Mean for Science
and Society?
Harold Varmus
Sequencing the Human Genome:
Blueprint
Eric Green
Whole-Genome Shotgun Sequencing
f. Craig venter
After the Genome
Leroy Hood
Introduction
Robert Bazell
Elucidating Our Genetic
: Where Should We Go?
Part 11
App/irations of Genomirs to Medirine and Agriru/ture
Genomics: Rapid Road from Gene to Patient
William Haselbr~e
The Origins of Cancer and the Human Genome
Arnold f. Levine
Gene Diversity in the Endorphin System: SNPs, Chips, and
Possible Implications
Mary fearsome Kreek
Genomics and Biotechnology in Agriculture
Barbara A. Schaal
20
35
48
64
77
79
87
97
109
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Contents vii
Part 111
Exploring Human Variation: Understanding Identityin the Genomir Era
Introduction
Rob DeSalle
Using Maternal and Paternal Genes to Unlock Human
History
Douglas C. Wallace
Eugenics, the Genome, and Human Rights
Daniel f. Kevles
Redesigning the Self: The Promise and Perils of Genetic
Enhancement
David i. Rothmar' arid Sheila M. Rothmar'
Part IV
Finanria/, Vega/, and Ethira/lssues and the New Genomirs
Introduction
Michael Waldholz
Investing in the Biotechnology Sector
Kris H. Ferrer
The Role of Patents in Exploiting the Genome
Rebecca Eiserlberg
Social Side Effects of the New Human Molecular Genetic
Diagnostics
Troy Duster
127
131
147
155
167
169
175
184
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viii CONTENTS
Mapping Morality: The Rights and Wrongs of Genomics 193
Arthur L. Caplar'
Summing Up: Finding Our Way Through the Revolution 199
Kathi E. Hartrta
Appendixes
A Contributor Biographical Sketches
B Conference Schedule
Index
211
229
235
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Foreword
In September 2000 the American Museum of Natu-
ral History was proud to host a landmark confer-
ence, "Sequencing the Human Genome: New Fron-
tiers in Science and Technology." For two days we
gathered an unparalleled group of experts, includ-
ing Nobel laureates, distinguished moderators, and leaders in the
scientific and business worlds, to focus on one of the most revolu-
tionary and complex scientific developments in history the
completion of the first draft sequence of the human genome.
This milestone brings with it enormously compelling opportu-
nities to better understand human health, our origins, and our rela-
tionship to other living things. At the same time, it raises profound
ethical questions about issues already known and some not yet even
imagined that will affect each and every one of us in such areas as
IX
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x FOREWORD
i]
the cloning of human beings and other species, the development of
new medical treatments, privacy, and the criminal justice system.
As we begin to explore the Age of the Genome, there is a press-
ing need for public discourse on this vitally important topic. It sim-
ply cannot be for experts only. The American Museum of Natural
History is uniquely positioned to begin extending these dialogues
outside of the laboratories and scientific community, bringing them
directly into the classrooms and living rooms of our country and the
world. By doing so, we aim to share not only scientific understand-
ing with the public but, equally vital, awareness of social implica-
tions and enhancement of the public's capacity to make both ethical
and policy judgments.
Throughout its more than 130-year history, the Museum has oc-
cupied a critical place at the nexus of scientific research and public
education, making scientific discoveries and interpreting them to
the public. Never has this role been more important than on this
topic, genomics, at this time, the dawn of a new century the cen-
tury of biology.
The American Museum of Natural History has long been a leader
n developing new scientific fields and intellectual pursuits. Mod-
ern anthropology was born here under the leadership of Frans Boas
and Margaret Mead. Paleontology found a new, more vigorous voice
here, and, most recently, the Museum unveiled a new scientific and
educational initiative of cosmic scale with the opening of the Rose
Center for Earth and Space in February 2000.
We move now from the vastness of the outer reaches of the uni-
verse to the microcosmic inner workings of earth's organisms, living
and fossilized. Today the Museum stands poised to take a leadership
role in the crucial area of nonhuman genomics crucial because the
human genome itself cannot be fully understood in isolation.
The Museum's leadership role is especially important because
our own genetic stuff simply does not tell the entire story of life on
earth. The human genome alone does not reveal the relationships
among species, human and nonhuman, the diversity of species, or
the evolution and organization of life. The fossil record and growing
frozen tissue collections housed at the Museum, including genetic
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Foreworcl xi
information from both extant and extinct species, are essential to
understanding where we were in the beginning so that we can ap-
preciate where we are today.
Nonhuman genomics carries enormous implications for advanc-
ing our understanding of the behavior of individual genes across
species, including humans, as well as for such urgent concerns as
conservation and medicine, providing a road map that when used
correctly will provide unbounded opportunity for better stewardship
of our planet and all its inhabitants.
The field of genomics is uniquely suited to the strengths of the
American Museum of Natural History with its collection of over 30
million specimens, one of the largest in the world, which forms an
unparalleled record of life on earth. The Museum is home to over
200 research scientists, who, like their predecessors, gather and in-
terpret evidence of the earth's history and evolution and the phylog-
eny of species. Our facilities and resources include state-of-the-art
molecular laboratories, powerful cutting-edge parallel computing ca-
pacity, and a new frozen tissue collection, with capacity to house 1
million tissue samples.
We aim now to use the Museum's collections in a wholly new
way to create a fuller, more comprehensive picture of the tree of life.
With this research agenda as a foundation, the Museum is also un-
dertaking an innovative program to educate the public about
genomics. This is consistent with our mission over the years the
Museum has tackled subjects of enormous public interest and con-
cern, including infectious disease, global warming, and species en-
dangerment.
The September 2000 conference marked the beginning of a
unique, sustained, and integrated effort to highlight and explicate
the field of genomics. A full year of activities followed the confer-
ence, including a conference on parallel computing and a sympo-
sium on conservation genetics. Particularly important to its educa-
tional role, the Museum opened a groundbreaking special exhibition
on genomics in May 2001. Entitled "The Genomic Revolution," the
exhibit offered a comprehensive look at the science and issues of
genomics from conservation and privacy to future prospects for the
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xIi FOREWORD
human race. It also offered a primer to the public and established a
foundation on which to build deeper understanding in the years
ahead. "The Genomic Revolution" will travel to venues throughout
the United States, with a possible international tour to follow.
At the time of the opening of this exhibition, the Museum also
launched a new Institute for Comparative Genomics. The Institute is
a pre-eminent center for collections, research, and training in the
field of non-human comparative genomics and pursues seminal re-
search in the study of gene variation. This work informs our under-
standing of the human genome, the evolution and history of life,
and the conservation of Earth's biodiversity.
It is not entirely clear to anyone where this genomic revolution
will lead. But it is obvious that each of us has an enormous stake in
understanding and managing the implications of this new era
of scientific discovery. We are honored to have had the opportunity
to include so many leaders of this scientific revolution in the two-
day conference and in this publication, which presents their remarks.
Ellen V. Futter
President, American Museum of Natural History
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Pre fate
This book began as a discussion between us over
five years ago, just as genomics was becoming an
integral part of molecular biology and as our work
evolved into genomic terrain from our respective
-
. ~ disciplines of evolutionary biology and public
health. At that time we had hoped to develop a conference on the
genome at the American Museum of Natural History (AMNH) and
eventually publish its proceedings. Always on the cutting edge of
scientific research, museum exhibition, and scientific programming,
the AMNH was, we believed, uniquely positioned to host a sympo-
sium on the scientific and public impact of genomics. The ongoing
debates about the consequences of the genome, coupled with rap-
idly advancing genetic technologies, suggested to us the importance
of increased public awareness of these issues. We drew up a wish list
. . .
x`~'
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xiv PREFACE
of the most accomplished names in a wide range of fields related to
either the scientific or social aspects of this burgeoning science.
The symposium was designed, following the mission of the
AMNH, to act as a nexus between the scientific community and the
public and to translate what are complex and often inaccessible ideas
to a common parlance. By hosting such an event, we had hoped that
the Museum could become a model for the popularization of ge-
nomic research and also be a participant in what has become the
most significant scientific undertaking of our time. To our great de-
light nearly everyone we invited to speak to the Museum public at
"Sequencing the Human Genome" said yes. What a wonderful two
days they were in September of 2000, listening to the provocative
and thoughtful comments of the distinguished group of speakers
whose words now grace the following pages.
The essays that follow are intended for both a lay and profes-
sional audience, and all do a great job of exploring the many aspects
of genomics in a way that should not intimidate science-phobic read-
ers. Some essays are more technical than others. Yet while the infor-
mation in this book is challenging, don't let this deter you it is
presented in straightforward fashion. The book is divided into four
parts plus our "Introduction," which is a look at the development of
the AMNH's exhibition on genomics. Each part of the book is intro-
duced by a science journalist who shares his thoughts on the state of
the genome and where he thinks this technology is taking us.
Long in the making, this book is born of the diligent efforts of
many colleagues, associates, and friends. And there are many to
thank. This project would not have been possible without our con-
tributors, all of whom rewrote their delivered addresses for inclusion
in this collection. We generously thank them all. Stephen Mautner,
publisher and editor of the Joseph Henry Press also deserves special
thanks in bringing this book to publication. Maron Waxman, Spe-
cial Publications Director at the American Museum of Natural His-
tory, shepherded this book from start to finish, and we owe her our
ongoing gratitude for her interest in our work and her friendship.
Kathi Hanna's painstaking work with us on the editing of the text
brought the book together in its current form, and we owe her thanks
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Preface xv
for helping craft the richness and clarity of this volume. Finally, we'd
like to thank C. Namwali Serpell, editorial assistant at the Joseph
Henry Press, who guided us through the completion of this text.
We would also like to thank Compaq for its generous support in
making the "Sequencing the Human Genome" conference possible.
Here at the Museum many who helped realize the conference de-
serve special thanks. American Museum of Natural History President
Ellen Futter's vision for the Museum as a home to both cutting-edge
science and innovative and informative public programming means
that "Sequencing the Human Genome" was only a part of the
Museum's effort to educate the public about genomics. That effort
continues with the Museum's exhibit on genomics, also shown at
other museums, and the growth of genomic work in its laboratories.
These types of efforts continue unabated thanks to President Futter
and Museum Senior Vice-President and Provost of Science Michael
Novacek. They both deserve special thanks for making all of this
possible. We also owe our deep gratitude to Museum Vice-President
Lisa Gugenheim and Elizabeth Werby in the Government Relations
office who helped to make the conference a reality. Finally, special
thanks go to the following Museum departments for their work on
the conference: Development, Communications, the National Cen-
ter for Science Literacy, Education, and Technology, Audio/Visual,
Central Reservations and Ticketing, Custodial Services, Security and
Safety, and Facilities Operations.
We would also like to thank David Rosner, all of the members of
the DeSalle Molecular Systematics Lab at the AMNH, and the faculty
and students in the History of Public Health and Medicine Program
at Columbia University's Mailman School of Public Health for their
helpful suggestions in the making of this volume.
Michael Yudell
Rob DeSalle
New York City
May 2002
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THE GENOMIC
REVOLUTION
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