Moments of Truth in Genetic Medicine

277 Pages·2005·1.85 MB·English

by  Susan Lindee

CONTENTS
Acknowledgments / ix
chapter 1
INTRODUCTION / 1
chapter 2
BABIES’ BLOOD
Phenylketonuria and the Rise of Public Health Genetics / 28
chapter 3
PROVENANCE AND THE PEDIGREE
Victor McKusick’s Field Work with the Pennsylvania Amish / 58
chapter 4
SQUASHED SPIDERS
Standardizing the Human Chromosomes and
Other Unruly Things / 90
chapter 5
TWO PEAS IN A POD
Twin Science and the Rise of Human Behavior Genetics / 120
chapter 6
JEWISH GENES
History, Emotion, and Familial Dysautonomia / 156
chapter 7
CONCLUSIONS / 188
Notes / 211
Essay on Sources / 231
Bibliography / 237
Index / 261
viii CONTENTS
ACKNOWLEDGMENTS
My first and most profound debt is to Dorothy Nelkin. Dot was my mentor,
coauthor, and friend. She read and commented on most of what I have writ-
ten, not only for this project but for almost everything I have worked on over
the past two decades. She was involved with this study from its earliest
stages to the near-final manuscript, reading many chapters and providing
detailed suggestions and comments. Her clear-eyed assessments were in-
valuable, her judgments impeccable. Her courage throughout her life was a
gift to all who knew her. For me, many times, she held up the sky, and I will
miss her always.
My colleagues in the Department of the History and Sociology of Science
at the University of Pennsylvania have been supportive, tolerant, skeptical,
and engaged. Conversations, observations, criticisms, and feedback from
Robert Aronowitz, Ruth Cowan, Steve Feierman, Riki Kuklick, and Janet
Tighe have been particularly helpful.
Charles Rosenberg, back in the old days when he was still at Penn, read
several versions of some chapters and suggested many improvements.
Then, after he had departed for Harvard, he carefully read the entire man-
uscript in near-final form and proposed a shift of perspective that greatly im-
proved the final version. He has encouraged my work on this project
throughout its long gestation, and my debts to Charles over the years are
profound.
Graduate students (past and present) at Penn, including Josh Berson,
Paul Burnett, Eve Buckley, Betsy Hanson, Andi Johnson, Joanna Kempner,
Susan Miller, Chloe Silverman, Jeff Tang, Dominique Tobbell, Roger Turner,
and Audra Wolfe, provided insights, support, teaching assistance, and en-
couragement on many levels. Chloe Silverman’s work on autism was a con-
stant source of inspiration, helping me think about patients and biomedi-
cine in productive ways. Jon Merz, at the Penn Center for Bioethics, kept me
aware of alternative ways of interrogating contemporary genomics, and
through the generosity of Art Caplan and the Penn Center for Bioethics I
had a quiet place to work during a sabbatical leave.
Other colleagues politely listened to me complain and fret, including
Mark Adams, David Barnes, Robert Kohler, Nathan Ensmenger, and Nathan
Sivin. Patricia Johnson provided administrative and social support.
At Johns Hopkins, Barton Childs corrected and inspired me and was pa-
tient with my questions. I suspect that Barton is a few decades (centuries?)
ahead of his time, and it was a great privilege to be able to draw on his in-
sights. Scott Gilbert, at Swarthmore College, read chapters, provided feed-
back, and laughed at the jokes. He and Barbara Kimmelman, at Philadel-
phia University, also met me for bagels and conversation once a month
during a particularly confused period early in the project.
I benefited from ongoing feedback from Rayna Rapp, whose commit-
ment to justice I greatly admire, and from Vassiliki Betty Smocovitis, who
kept this project on track at several points. Faye Ginsburg was an informant,
commentator, and critical supporter, sending website addresses, e-mail
threads, amazing quotes, and sometimes T-shirts. Karen-Sue Taussig pro-
vided commentary, criticism, encouragement, and occasional dinners out.
I am also deeply indebted to Diane Paul and Jonathan Marks, both of
whom exemplify critically engaged scholarship.
Some people who played a role in the events I explore read and com-
mented on chapters or spoke with me about their research and their fields.
Barton Childs helped me understand the rise of PKU testing. John Hamer-
ton’s comments on the cytogenetics chapter were perceptive and extremely
helpful. Clarke Fraser generously read and commented on every chapter,
caught many infelicities, and encouraged and praised what was worthwhile.
I am deeply indebted to him; he was an excellent critic in every way. I also
drew on the insights of Felicia Axelrod, Joseph Dancis, Irving Gottesman,
x ACKNOWLEDGMENTS
Gladys Gropper, Alfred Knudson, Barbara Migeon, William Pollin, Artemis
Simopoulis, and Conrad Riley.
Thanks are due to Joyce and Richard Rosen, who happen to live across
the street from the house where I grew up in Houston. Joyce and Richard,
who have an affected son, told me about familial dysautonomia, a genetic
disease I had never heard of, and this disorder subsequently became the
focus of an important chapter in this book.
Archivists are always a crucial resource, and I am grateful to Daniel Bar-
biero and Janice Goldblum at the National Academy of Sciences; Marjorie
Ciarlante and Tab Lewis at the National Archives and Records Administra-
tion at College Park; and Matt Fulghum at the National Archives and
Records Administration in Washington, D.C. Special thanks are due to
archivists Nancy McCall, for her guidance and suggestions, and Gerard
Schorb, for his patient and efficient assistance in my efforts to negotiate the
papers of Victor A. McKusick at the Alan Mason Chesney Medical Archives
at Johns Hopkins University. Thanks are due to McKusick, for his permis-
sion to use this remarkable, rich collection.
Marion Robertson, at the Maryland Department of Health, is neither an
archivist nor a historian, but she saved old records in an unused cabinet in
Baltimore and I am grateful for her foresight.
The Burroughs Wellcome Fund Fortieth Anniversary Award supported
this project, providing funds for crucial writing and research time. The
award permitted me to begin serious research on a project that had been
quietly germinating for some time. I only regret that its completion has take
me so long, despite the fund’s support and that of the University of Penn-
sylvania, which provided me with sabbaticals over the years.
Jackie Wehmueller, at the Johns Hopkins University Press, was a sym-
pathetic and enthusiastic editor. Linda Strange copyedited a final manuscript
that desperately needed her skills. Paul Burnett patiently tracked down per-
missions for the illustrations.
Permissions to reprint earlier published works were graciously given by
the Chicago Kent Law Review, for a version of chapter 2 published as “Ba-
bies’ Blood: Phenylketonuria and the Rise of Neonatal Testing, 1955–1965”
(Chicago Kent Law Review75, no. 1 [1999]: 113–133); and also by the Univer-
sity of California Press, for a version of chapter 3 published as “Provenance
and the Pedigree: Victor McKusick’s Fieldwork with Ellis–van Creveld Syn-
ACKNOWLEDGMENTS xi
drome in the Pennsylvania Amish” (in Genetic Nature/Culture: Anthropology
and Science beyond the Two Cultures Divide, ed. Alan Goodman, Deborah
Heath, and Susan Lindee [Berkeley and Los Angeles: University of Califor-
nia Press, 2003]).
On a personal level, thanks are due to Dot’s husband, Mark Nelkin, and
daughter, Lisa Nelkin. I have also relied heavily on the generous support of
my sisters, Marguerite Lindee, of Houston, and Lauren Lindee, of Tregarth,
Wales; my brothers, Michael, Herbert, and Charles Lindee, all of Houston;
and my friends Annie Dannenberg of Arcata, California; Lee Dante of
Philadelphia; Barbara Kimmelman of Philadelphia; Sydney Rubin of Austin,
Texas; and Betty Smocovitis of Gainesville, Florida. In this group, only Betty
and Lauren read chapters, but all helped me produce this book nonetheless.
The caring labor they performed may not count as standard scholarly assis-
tance but it mattered a lot to me.
Finally, I wish to remember with gratitude my husband, Brett Skakun,
whose struggle with cancer ended in the fall of 2003. Brett supported my
work from its earliest stages. This book is dedicated in his memory to our
sons, Grant and Travis Skakun, with love.
xii ACKNOWLEDGMENTS
chapter 1
INTRODUCTION
Human genetics was transformed from a medical backwater to an appeal-
ing medical research frontier between 1955 and 1975. This periodization was
not obvious to me when I began my study, but over and over again I found
these twenty years emerging as a turning point in the fortunes of genetic
disease. This book, therefore, explores the institutions, disciplines, practices,
and ideas that began to reconfigure human disease in genetic terms dur-
ing what might be called the long 1960s.
For many critical intellectual and institutional innovations, the crucial pe-
riod was even shorter. There were remarkable changes in many fields rele-
vant to genetic disease during the four or five years after 1959. For public
health genetics, behavior genetics, cancer genetics, and biochemical genet-
ics, the early 1960s were transformative. Human cytogenetics was a sleepy
subspecialty of no interest to physicians in the late 1950s. By 1964 it was
glamorous enough that practicing clinicians wanted to learn to work with
chromosomes. Public health genetics did not exist, at least in the sense of
legislative or political support, in 1960. But by 1966 most U.S. states had
elaborate neonatal testing programs created by legislators intrigued by
phenylketonuria testing and clamoring for more tests. In the early 1960s,
experts interested in genetic disease (and they were not all geneticists by any
means) seem to have hit something like criticality—in physics, the point at
which there is a sufficient quantity of fissionable material to sustain a chain
reaction, and in culture, perhaps, the point at which interactive effects pro-
duce rapid institutional and social change. There were enough people and
institutions with a stake in genetic disease to support a series of related, and
sometimes independent, events that have had profound consequences for
the development of biomedicine. And so this book is a study of a period of
transformation in one of the most high-profile biomedical fields of the late
twentieth century.
At another level, it is a study of the realization of an idea. The idea is that
all human disease is a genetic phenomenon subject to technological con-
trol. The realization of this idea is its tangible manifestations, which are
threaded through the practices and policies of institutions and through the
most technical and most intimate interactions—between parent and child,
physician and patient, or scientist and research subject. The idea that all dis-
ease is genetic disease is not an abstraction. It is a social experience mani-
fest in language, technology, emotion, and policy. Increasingly, it plays a role
in the legal system, in the practices of hospitals, in the research priorities of
the armed forces, in the treatment of people with mental retardation, and in
medical education. It has become an idea with social force. The study of the
realization of an idea is the study of the imbrication or embeddedness of that
idea and the study of how and why it works and what it accomplishes. It is
also the study of the many diverse workers involved in building the network
of policies and practices that hold the idea in place and mediate its conse-
quences. When I look at the events that form the core of my story, then, I
am looking for the idea that all disease is genetic disease as it solidified
across so many social and epistemological fields and as it became one of the
most important ways of understanding the frailties of the human body.
Finally, at a more theoretical level, this book is a study of the patchwork
qualities of knowing. The “moment of truth” of my title is the moment of
recognition or understanding, the moment when a given phenomenon is
classified or categorized or placed in a narrative that explains it. It can be a
moment experienced by anyone—the scientist, the research subject, the
families of the research subject, or even people in general. In my construc-
tion, it becomes a moment of truth by virtue of having been incorporated
into a formal scientific text or into scientific and medical practice. At that
point, it has been taken up as a factual detail, a scrap of reality, perhaps with
some of the edges trimmed so that it is in effect camouflaged, presented
seamlessly along with other moments of truth experienced by other actors.
2 MOMENTS OF TRUTH IN GENETIC MEDICINE
This is a counterintuitive way of seeing scientific texts, which are usually
understood to be products of the knowledge of the author or authors or per-
haps of the scientific community that polices publication. In some ways, sci-
entific papers are precisely that, produced by a single person or laboratory
or research group and expressing the negotiated knowledge of that person,
laboratory, or group, as filtered through the broader scientific community.
But in other ways they are sometimes amalgamations of knowledge ac-
quired by many different people at many different times. What this per-
spective contributes to our understanding of biomedicine is one of my cen-
tral problematics, and the problem is by no means resolved here. At the very
least, it suggests that the process of producing technical knowledge is even
more complicated than it seems. Scientific knowledge is a community proj-
ect that can be (has been?) shaped quite directly by people in many differ-
ent social and professional locations. Although professional authority looms
large in many accounts of technical knowledge, the power to experience and
report truth may be much more dispersed than it sometimes appears.
A moment’s reflection suggests how active human beings are as subjects
in an experimental system. Those who work with mice, flies, or other non-
human organisms do encounter actions that might be identified as resist-
ance in their subjects. Flies die or fail to breed; mice behave in unexpected
ways. Organisms have biological agency that is the direct source of their
value to science, and when they resist, when they perform in unexpected
ways, their resistance is informative and revealing. Their agency is what
makes them potential resources for the elucidation of natural truth. But
human beings have a form of agency that is both more powerful and more
troubling. They have what might be called contaminated agency. Like sci-
entists, human subjects are sentient and capable of ignorance, emotional-
ity, superstition, and malice. A mouse cannot be unreliable in this way, but
human beings are commonly understood to be unreliable in this way at all
times. Human subjects are capable of resistance, hostility, illogical thinking,
and dishonesty. At the same time, they can also be extremely informative
and insightful, keen observers of their own world and their own bodies, able
to illuminate technical problems by virtue of their historical and social ex-
periences.
About two years into this project, I began to notice that conclusions about
heredity and disease reached by people who were not scientists and not tech-
nically trained were sometimes incorporated whole into scientific texts. I no-
INTRODUCTION 3