Moments of Truth in Genetic Medicine

Chapter 1: Introduction

chapter 1 I N T R O D U C T I O N Human genetics was transformed from a medical backwater to an appealing 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 during what might be called the long 1960s. For many critical intellectual and institutional innovations, the crucial period was even shorter. There were remarkable changes in many fields relevant to genetic disease during the four or five years after 1959. For public health genetics, behavior genetics, cancer genetics, and biochemical genetics , 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 produce 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 control . 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 disease is genetic disease is not an abstraction. It is a social experience manifest 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 consequences . 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 construction , 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 M O M E N T S O F T R U T H I N G E N E...