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Saving Babies?

The Consequences of Newborn Genetic Screening

Saving Babies?

The Consequences of Newborn Genetic Screening

It has been close to six decades since Watson and Crick discovered the structure of DNA and more than ten years since the human genome was decoded. Today, through the collection and analysis of a small blood sample, every baby born in the United States is screened for more than fifty genetic disorders. Though the early detection of these abnormalities can potentially save lives, the test also has a high percentage of false positives—inaccurate results that can take a brutal emotional toll on parents before they are corrected. Now some doctors are questioning whether the benefits of these screenings outweigh the stress and pain they sometimes produce. In Saving Babies?, Stefan Timmermans and Mara Buchbinder evaluate the consequences and benefits of state-mandated newborn screening—and the larger policy questions they raise about the inherent inequalities in American medical care that limit the effectiveness of this potentially lifesaving technology.
Drawing on observations and interviews with families, doctors, and policy actors, Timmermans and Buchbinder have given us the first ethnographic study of how parents and geneticists resolve the many uncertainties in screening newborns. Ideal for scholars of medicine, public health, and public policy, this book is destined to become a classic in its field.


"Smart, humane, and beautifully written, Saving Babies? is respectful but critical of clinicians, parents, and policymakers as it vividly connects the reader to the human tragedies on the page. Without being maudlin, Stefan Timmermans and Mara Buchbinder show us how newborn screening really works. Despite the grim subjects, this profound book is a real treat to read."

Carol A. Heimer | Northwestern University

"Recently expanded newborn screening for genetic disorders aims to enhance one of the triumphs of public health, right up there with vaccination and sanitation. But with millions of babies screened each year in all fifty states, one can lose sight of the fact that each family’s situation is unique and that their perception of the screening program – its benefits, its anxieties, its unpronounceable disease names—will differ. Stefan Timmermans and Mara Buchbinder capture those individual stories with sensitivity and compassion. The clinical scenarios they describe, all true, are fascinating and eye-opening, revealing attitudes and responses by both the families and their physicians that are often quite unexpected, but always poignant."

Dr. Wayne W. Grody, M.D., Ph.D. | UCLA School of Medicine

"In this sophisticated and grimly fascinating analysis of the social realities of newborn screening, Stefan Timmermans and Mara Buchbinder  describe our brief experience with newborn genetic screening as a natural experiment, a sampling device illuminating the complex relationships among policy, technology, clinicians, medical institutions and medical advocacy—and their very powerful effect on patients and practitioners. As we have become all too well aware, technological progress can create new problems as it promises solutions to old ones. Saving Babies? should be of interest to anyone seriously concerned with health policy and the human condition in the twenty-first century."

Charles Rosenberg | author of Our Present Complaint: American Medicine, Then and Now

“Well integrated with research in the larger field. Overall, this volume is extremely interesting and worth reading for anyone working in the field of bioethics because it addresses a little-known but very important topic . . . [.] Extremely well-written, extensively researched, easy to read, and eye-opening.”

Ethics & Medicine

“The book is best when it evaluates the social dynamics of patients, parents, and staff (geneticists, dieticians, etc.) and how these dynamics are affected by uncertainties associated with the diagnosis and prognosis of babies with genetically determined metabolic abnormalities. . . . Saving Babies? effectively describes and analyzes the benefits and costs of newborn genetic testing for patients, parents, and clinicians. Recommended.”


“This is a fine, nuanced, multi-centered study of a complex social issue, and as a methodological model is well worth reading and having our students read.”

Contemporary Sociology

“Sociologist Timmermans and anthropologist Buchbinder have written a smart, sensitive, and compelling ethnography of the consequences of newborn genetic screening for babies who receive a positive test, for their parents, and for the clinicians and clinic staff who treat them. . . . [They] remain sympathetic to the goals of newborn genetic screening, and do not recommend that it be abandoned, but they insist that the entire story, the bad with the good, be taken into account.”

Journal of the History of Medicine & Allied Sciences

“Recommended reading.”

Canadian Studies in Population

Table of Contents

Introduction: The Consequences of Newborn Screening

Chapter 1. The Expansion of Newborn Screening
Chapter 2. Patients-in-Waiting
Chapter 3. Shifting Disease Ontologies
Chapter 4. Is My Baby Normal?
Chapter 5. The Limits of Prevention
Chapter 6. Does Newborn Screening Save Lives?

Conclusion: The Future of Expanded Newborn Screening


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