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.
