The Drama of DNA Narrative Genomics

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The Drama of DNA
Narrative Genomics

Karen H. Rothenberg
and
Lynn Wein Bush

1
1
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Library of Congress Cataloging-in-Publication Data

Rothenberg, Karen H., 1952– author.
The drama of DNA : narrative genomics / Karen H. Rothenberg and Lynn W. Bush.
p. ; cm.
Includes bibliographical references.
ISBN 978–0–19–930935–1 (alk. paper)
I. Bush, Lynn W., author. II. Title.
[DNLM: 1. Genomics. 2. Drama. 3. Teaching—methods. QU 460]
QH431
611′.018166—dc23
2013037248

9 8 7 6 5 4 3 2 1
Printed in the United States of America
on acid-free paper
To our families, with enduring love
Content s

Foreword by Eric D. Green, MD, PhD ix

Preface xi
A Note from the Authors xv

1. Setting the Genomic Stage: Why Genomics, Why Narratives,

Why Now? 1

Part one: Narrative Genomics: Exploring Process in Context

2. Anticipating the Future: Genomic Protocols & Ethics Consultations 11

Scene I : The IRB Meeting 12
Scene II: The Genomic Advisory Committee 22
Additional Questions 30
3. Informing the Future: The Process of Consent & Disclosure
of Genomic Information 31
Scene I: The Informed Consent Process 32
Scene II: The Return of Genomic Findings 40
Additional Questions 45
4. Reframing an “Open Future”: The Shifting Landscape from
NBS to NBSeq 47
Scene I: The Paradoxes of NBSeq 48
Scene II: The Practical Concerns in Pandora’s Box 52
Additional Questions 56

Part two: Integrating Narrative Genomics: A Case Study Drama

5. Reconceptualizing the Past, Present, & Future:

Next-Gen Sequencing—“What’s Next?!” 61
Scene I: The IRB Deliberation 62
Scene II: The Informed Consent Process 67
Scene III: The Clinical Ethics Consultation 72
Scene IV: The Return of Genomic Findings 77
Additional Questions 79
Part Three: Narrative Genomics on Stage: DNA, Society, and Theatre

6. Dramatizing the Past, Present, & Future: Theatrical Narratives from

Genetics to Genomics 83
Section I: The Theatrical Double Helix and “Chromozones” 85
Section II: Mapping and Manipulating Fate 87
Section III: A Genomic Crystal Ball in the Post-Mapping Decade 92
Additional Questions 98

References 99
Bibliography 159

Online Links to Original Genomic Plays

Chapter 2 “Imagining a Genomic Crystal Ball”
Chapter 3 “It’s Not That Simple!” and “It’s So Complicated!!” (sequel)
Chapter 4 “The Paradoxes in Pandora’s Box” and “Paradoxes Within Pandora’s
Box” (fuller version)
Chapter 5 “What’s Next?!”

Note: Six full-length plays, adapted to varying degrees for the narratives
in these chapters, can be accessed at the companion website for this book,
http://global.oup.com/us/companion.websites/9780199309351/.

[viii] Contents
Foreword

The past decade has brought spectacular advances in technologies for analyz-
ing genomes, in particular methods for “reading out” the sequence of DNA.
These advances have catalyzed the spread of genomic approaches for studying
human disease across the biomedical research landscape, which in turn has
brought an impressive acceleration in the acquisition of fundamental knowl-
edge about the genome’s role in health and disease. To capitalize on these
successes and to facilitate the use of genomics in medical care (i.e., genomic
medicine), we need a better understanding of the professional and societal
implications of routinely acquiring and using human genomic information.
Among the many things to consider is the need for healthcare professionals
to interpret and communicate genomic information to their patients; yet that
information is often associated with immediate uncertainty and its predictive
value will almost certainly evolve over time. And yet that very genomic data
have great potential to redefine our conceptualization of health, disease, and
identity.
Effectively examining the implications of genomic advances requires
interdisciplinary collaborations. Toward that end, narrative genomics devel-
oped by Karen Rothenberg and Lynn Bush offers a novel path to enhance the
understanding and dialogue among clinical geneticists, genetic counselors,
bench scientists, primary care physicians, bioethicists, policy makers, other
researchers and healthcare professionals, patients, and patient advocates.
Many of their papers and plays have been posted on the National Human
Genome Research Institute (NHGRI) website—www.genome.gov—for wide-
spread access. Their narratives extend beyond the provision of genomic infor-
mation, and illustrate what they call “the dialogues and dilemmas” of genomic
research and its application to medicine.
Having a compilation of Rothenberg and Bush vignettes in book form also
facilitates using the narratives and accompanying questions in the medical
education setting. Interest in their creative approach has been expressed by
members of the scientific community following exposure to their initial publi-
cations and presentations at professional meetings (e.g., the annual meetings
of the American College of Medical Genetics and Genomics and the American
Society of Human Genetics) and at a number of academic medical centers in
the United States and abroad.
Personally, I have had the opportunity to participate and “act” (very lib-
erally defined!) in several sessions at the National Institutes of Health and
elsewhere involving Rothenberg and Bush’s original plays as well as scenes
from existing theatre. My experiences confirm that their novel approach
successfully generates a constructive dialogue about the ethical, psychologi-
cal, and societal challenges that develop with the infusion of genomics into
real-world situations. Understanding these important transitional challenges
is a key component of the mission of NHGRI, as we aim to chart the course
from genomic research to genomic medicine.
As Director of NHGRI, I have also supported the use of Rothenberg and
Bush’s vignettes and existing theatrical excerpts at policy meetings, training
sessions, and trans-NIH bioethics programs—and most recently, as part of a
multiyear collaboration with the Smithsonian Institution’s National Museum
of Natural History’s exhibition Genome: Unlocking Life’s Code, which commem-
orates the 10th anniversary of completing the Human Genome Project.
It is with the spirit of providing a valuable resource for enhancing teach-
ing and an interdisciplinary dialogue in genomics that I welcome Rothenberg
and Bush’s contribution represented by this book. From my perspective, these
pages provide an innovative vehicle to illuminate the human element and to
facilitate insight into the challenges facing individuals, families, professionals,
and society as we move into a future of genomics-based health care.

Eric D. Green, MD, PhD

Director, National Human Genome Research Institute
National Institutes of Health
Bethesda, Maryland

[x] Foreword
P refac e

We share an appreciation for the power of dramatic narratives to bring to life

the complex challenges posed by emerging genomic technologies. Narrative
genomics developed from our belief in this creative pedagogical approach to
illuminate issues to the genomics community. And so this book evolved.
As fate would have it, our paths crossed while we were both at Columbia
University five years ago at interdisciplinary seminars on health law, bioeth-
ics, science policy, and narrative medicine. Neither of us is shy, and it soon
became apparent that we both had a strong interest in enhancing dialogue
and understanding about the ethical, psychological, and policy challenges
raised by generating and sharing vast amounts of genomic information. With
diverse backgrounds in psychology, genetics, law, and bioethics, we both had
woven dramatic narratives into our teaching and scholarship to enhance the
educational experiences within our varied professional contexts. Once we
met, we were a team.
We initially collaborated on the creation of a short vignette play in the
context of genomic research and the informed consent process that was per-
formed at the NHGRI-ELSI Congress by a geneticist, genetic counselor, and
other conference attendees. The response by “actors” and audience fueled us
to write many more plays of varying lengths on different genomic issues, as
well as to explore the dialogues of existing theatre with genetic and genomic
themes—all to be presented and reflected upon by interdisciplinary profes-
sionals in the genomics community at conferences and academic institutions
across the globe.
This book would not have been possible without the support and gener-
ous feedback of so many colleagues. Nancy King first introduced us to the
concept of “readers’ theater” and inspired and encouraged us to develop nar-
rative genomics. Jim Evans guided us with his insights and watchful genomics
eye throughout our endeavor, and enthusiastically acted in most of our plays,
beginning with our first performance in which he brilliantly played a snarky
19-year-old.
A very special thank you to Eric Green, Director of NHGRI, for embrac-
ing from day one the benefits of narrative genomics as a creative technique
to facilitate understanding of the implications of genomic technologies on
professionals and society—not to mention his many starring performances!!!
We want to express our deep appreciation to other colleagues at NHGRI and
the NIH Department of Bioethics, especially Ben Berkman, Barbara Biesecker,
Christine Grady, and Sara Hull, for their reviews, commentaries, the sharing
of our work with faculty and fellows, and acting roles from pilots at the NIH
to final scripts on stage. A special thank-you for the encouragement of the
Division of Genomics and Society—Joy Boyer, Larry Brody, Jean McEwen, and
Nicole Lockhart, and the support of the Division of Policy, Communications,
and Education, including Vence Bonham, Christina Daulton, Carla Easter,
Raymond MacDougall, Jeannine Mjoseth, Laura Rodriguez, and Larry
Thompson—not to mention so many of these folks and others at NHGRI who
have participated in our play readings over the last few years. We are also so
grateful for the artistic talent of Darryl Leja, who created the image for this
cover, and Annette Sante for her outstanding technical assistance and endur-
ing patience.
Our gratitude extends to all the members of the genomics community
who so generously “volunteered” to be actors and discussants at numerous
conferences over the years, especially Jeff Botkin, Carlos Bustamante, Malia
Fullerton, Steve Joffe, Eric Juengst, Barbara Koenig, Michelle Lewis, Amy
McGuire, Bob Nussbaum, Pearl O’Rourke, Heidi Rehm, Ginna Sybert, Wendy
Uhlmann, Ben Wilfond, and Susan Wolf. We want to thank Elisa Hurley and
Joe McInerney for their support in sharing this pedagogical method broadly
with their interdisciplinary membership through videotaping of our plays.
And for giving us a global presence, we thank David Weisbrot and his col-
leagues in Australia, Tim Caulfield in Canada, Hub Zwart in the Netherlands,
and colleagues at the Wellcome Trust in the United Kingdom. In addition, we
are greatly appreciative of our diverse audiences for their important role in
actively participating in the performance discussions.
We wish to thank our colleagues at Columbia for their advice and support
throughout the years, and are particularly grateful to Ruth Fischbach and
George Hardart at the Center for Bioethics for so generously embracing nar-
rative genomics as an educational method to use with colleagues and medical
students; Wendy Chung, Brynn Levy, Jacinda Sampson, and Kwame Anyane
Yeboa for contributing their expertise in clinical genetics and neurogenetics;
James Colgrove for his mentorship on public heath ethics and the historical
underpinnings of bioethics; Rita Charon for sharing her scholarly interest
and enthusiasm for narrative medicine; and Kendall Thomas for his academic
leadership on the study of law and culture. And at Maryland Law, we thank
our colleagues with the Linking Law and the Arts initiative, including Taunya
Banks and the late Katherine Vaughns, and Diane Hoffmann of the Law and
Health Care Program—with a very extra special thanks to Sue McCarty for her
expertise and patience in helping us format our extensive references and her

[xii] Preface
thorough review of this book manuscript. Our appreciation also extends to
the faculty of the Berman Institute of Bioethics at Johns Hopkins, especially
Ruth Faden, Gail Geller, Jeff Kahn, Nancy Kass, and Jeremy Sugarman for
their interest and experience in integrating narratives into bioethics teaching
and scholarship.
We are indebted to Chad Zimmerman, our outstanding editor at Oxford
University Press, for his unwavering support and thoughtful guidance in mak-
ing this book become a reality—having faith in the value of narrative genomics
as a creative educational technique for the genomics community. Our thanks
also extend to Meredith Keller, Emily Perry, and others on the editorial staff
at Oxford for their valuable contributions to this book project.
Finally, we want to express to our husbands, Jeff and Paul, our love and
appreciation for enduring years of listening to us morning, noon, and night on
the phone creating plays and drafting, editing, and re-editing this book long
distance. As we reflect on the creative process, we dedicate this book to our
children—who have enriched our lives beyond our imagination.

Preface [xiii]
A Note fr om th e Au th or s

The Drama of DNA is meant to provide an analytical foundation and pedagogi-

cal approach to the many complex challenges surrounding clinical genetics,
genomic medicine, and its related disciplines. Because we hope to facilitate
interdisciplinary discourse and reflection on the complexity of the scientific,
ethical, psychological, societal, legal, and policy issues discussed within the
chapters and online plays, we have provided an extensive reference section
at the end of this book that gathers multiple sources together under numeric
headings. These reference groups are referred to by number throughout the
text, and are often re-cited in different chapters to reflect that these complex
issues arise in multiple contexts. We consider each reference entry important
individually, and together the numbered groupings highlight the breadth of
scholarship on these multidisciplinary and interrelated issues as a resource to
enhance teaching.