In the article, adapted from their book The PKU Paradox: A Short History of a Genetic Disease, Brosco and historian Diane B. Paul, Ph.D., discuss the politics of genetic testing in newborns and how a simple screening test for phenylketonuria (PKU) became the prototype for universal newborn screening programs.
The history of newborn screening in the U.S. dates back to the early 1960s, when American microbiologist Robert Guthrie introduced a simple screening test for PKU, a genetic condition causing intellectual disability that affected his 15-month-old niece. Although the genetic disorder is rare, affecting only 1 in 15,000 people, Guthrie’s test has become mandatory in most countries.
“PKU is a rare disease, but it is well known because it launched the newborn screening paradigm 50 years ago, and because it stands today as a prime example of a treatable genetic disease,” said Brosco, who also trained in history of medicine. “Writing this history of PKU allowed us to review critical moments in late 20th-century medicine, which help us better understand some of the challenges we now face in the genomic era.”
Published last month, the book is the first general history of PKU that explains the paradox and explores how a rare genetic disease became the object of an unprecedented system for routine testing. Its 320 pages also touch on ongoing controversies about newborn screening and what happens to blood samples collected at birth.
In a forward to the Pediatrics article, Jeffrey P. Baker, Section Editor of Historical Perspectives, says the book “tells a story that has left a far more complex legacy than most pediatricians recognize.”
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