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Cover image of The PKU Paradox
Cover image of The PKU Paradox
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The PKU Paradox

A Short History of a Genetic Disease

Diane B. Paul and Jeffrey P. Brosco

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How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics?  

In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox.

PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated...

How did a disease of marginal public health significance acquire paradigmatic status in public health and genetics?  

In a lifetime of practice, most physicians will never encounter a single case of PKU. Yet every physician in the industrialized world learns about the disease in medical school and, since the early 1960s, the newborn heel stick test for PKU has been mandatory in many countries. Diane B. Paul and Jeffrey P. Brosco’s beautifully written book explains this paradox.

PKU (phenylketonuria) is a genetic disorder that causes severe cognitive impairment if it is not detected and treated with a strict and difficult diet. Programs to detect PKU and start treatment early are deservedly considered a public health success story. Some have traded on this success to urge expanded newborn screening, defend basic research in genetics, and confront proponents of genetic determinism. In this context, treatment for PKU is typically represented as a simple matter of adhering to a low-phenylalanine diet. In reality, the challenges of living with PKU are daunting.

In this first general history of PKU, a historian and a pediatrician explore how a rare genetic disease became the object of an unprecedented system for routine testing. The PKU Paradox is informed by interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The questions it raises touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.

Reviews

Reviews

Paul and Brosco are to be congratulated on producing an extremely worthwhile, interesting and very readable book. I highly recommend it to geneticists, bioethicists, to those directly or indirectly involved in newborn screening, and to all others who wish to understand the basis for the current enthusiasm about the role of genetics and genetic screening in health and the prevention of disease.

The PKU Paradox will be essential reading for anyone interested in the sociocultural, ethical and historical aspects of PKU and newborn screening more generally.

This book is a fascinating biography of this syndrome... enriched by illustrations from public health campaigns, advertising material for PKU-friendly supplements, and interviews with people who have lived with PKU and who have given first-hand accounts of their lived experience... The PKU Paradox is a useful and provoking addition to the Biographies of Disease series.

Paul and Brosco are to be commended for reminding us all how central the PKU story has been to the development of genetics and medicine, the connection of genotype to phenotype to society, and to the way this society views people with intellectual disabilities. This is a book that should be read by all geneticists and physicians and people with an interest and concern about individuals for with intellectual impairments.

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Book Details

Publication Date
Status
Available
Trim Size
5.5
x
8.5
Pages
320
ISBN
9781421411316
Illustration Description
12 b&w illus.
Table of Contents

Foreword, by Charles E. Rosenberg
Preface
List of Abbreviations
Introduction: Pearl Buck, PKU, and Mental Retardation
1. The Discovery of PKU as a Metabolic Disorder
2. PKU as a Form of Cognitive

Foreword, by Charles E. Rosenberg
Preface
List of Abbreviations
Introduction: Pearl Buck, PKU, and Mental Retardation
1. The Discovery of PKU as a Metabolic Disorder
2. PKU as a Form of Cognitive Impairment
3. Testing and Treating Newborns, 1950–1962
4. The Campaign for Mandatory Testing
5. Sources of Skepticism
6. New Paradigms for PKU
7. Living with PKU
8. The Perplexing Problem of Maternal PKU
9. Who Should Procreate? Perspectives on Reproductive Choice and Responsibility in Postwar America
10. Newborn Screening Expands
Epilogue: "The Government Has Your Baby's DNA": Contesting the Storage and Secondary Use of Residual Dried Blood Spots
Acknowledgments
A Note on Sources
Notes
Index

Author Bios
Featured Contributor

Diane B. Paul, Ph.D.

Diane B. Paul is a professor emerita at the University of Massachusetts, Boston, and a research associate at the Museum of Comparative Zoology, Harvard University.
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