The PKU Paradox: A Short History of a Genetic Disease

The PKU Paradox: A Short History of a Genetic Disease

by Diane B. Paul, Jeffrey P. Brosco
     
 

View All Available Formats & Editions

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

See more details below

Overview

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.

Johns Hopkins University Press

Read More

Editorial Reviews

Journal of Medical Genetics - Harvey L. Levy

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.

Social History of Medicine - Mara Buchbinder

The ability to illustrate a wide range of historical themes through a single, compelling case will make The PKU Paradox particularly useful for undergraduate teaching, as will the short, concisely written chapters. It is not an easy task to clearly portray the history of a subject as complex and elusive as disease, and Paul and Brosco have done an admirable job in this regard. The PKU Paradox will be essential reading for anyone interested in the sociocultural, ethical and historical aspects of PKU and newborn screening more generally.

Health and History - Philippa Martyr

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.

Quarterly Review of Biology - John B. Jenkins

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.

Isis - Soraya De Chadarevian

The PKU Paradox is a clearly and engagingly written book that provides an excellent introduction to the history of a disease and its broader implications in twentieth-century biomedicine.

Society for the Study of Inborn Errors of Metabolism - Neil R. M. Buist

This is a deeply researched and most readable history of PKU from its discovery in 1930... up to the success story of the present day.

Read More

Product Details

ISBN-13:
9781421411316
Publisher:
Johns Hopkins University Press
Publication date:
11/14/2013
Series:
Johns Hopkins Biographies of Disease
Pages:
320
Sales rank:
939,098
Product dimensions:
5.40(w) x 8.40(h) x 1.10(d)
Age Range:
18 Years

Related Subjects

What People are saying about this

M. Susan Lindee

A highly compelling story about a successful medical intervention—literally life changing—that has also had unintended consequences. This study is extremely relevant to contemporary genomic medicine.

Customer Reviews

Average Review:

Write a Review

and post it to your social network

     

Most Helpful Customer Reviews

See all customer reviews >