Dr. Jeff Brosco (FL LEND), Co-author of New Book Entitled, The PKU Paradox

December 5, 2013

Dr. Jeffrey  Brosco, LEND Director at the University of Miami Mailman Center for Child Development recently co-authored a book entitled The PKU Paradox: A Short History of a Genetic Disorder with Diane Paul, professor emeritus at the University of Massachusetts, Boston.

You can purchase the book here on Amazon.com.

The book summary, from Amazon:

"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."

The book explains the paradox of PKU, how did a disease with limited public health significance become the object of an unprecedented system for the routine testing of newborns? It utilizes interviews with scientists, clinicians, policymakers, and individuals who live with the disease. The PKU Paradox touches on ongoing controversies about newborn screening and what happens to blood samples collected at birth. Jeffrey Brosco, MD, PhD is a professor of clinical pediatrics at University of Miami Miller School of Medicine and associate director of Mailman Center for Child Development. He also serves as chair of the Pediatric Bioethics Committee at Jackson Memorial Hospital.