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Toward a Realistic Assessment of PKU Screening

Published online by Cambridge University Press:  28 February 2022

Diane B. Paul
Diane B. Paul*
Affiliation:
University of Massachusetts, Boston
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Extract

Newborn screening for the genetic disease phenylketonuria (PKU) is generally considered the greatest success story of applied human genetics. Paradoxically, it is invoked both by those who stress the value and those who emphasize the limitations of genetic medicine.

PKU screening is often cited as a model for genetic medicine and as a precedent for those who favor the expansion of genetic tests (Azen 1991, 35; Scriver 1991; Bishop and Waldholz 1990, 18-19). But even those skeptical of most screening programs tend to describe this program in sunny terms (Natowicz and Alper 1991, 387-89; Nelkin and Tancredi 1989, 160). The near-consensus on the success of PKU screening is explained by the variety of interests the example serves. Untreated phenylketonuria results in severe mental retardation and behavioral disorders. But if it is identified in the newborn, the disease is treatable through a special diet.

Type
Part X. Policy Issues in Human Genetics
Information
PSA: Proceedings of the Biennial Meeting of the Philosophy of Science Association , Volume 1994 , Issue 2: Volume Two: Symposia and Invited Papers 1994 , 1994 , pp. 322 - 328
Copyright
Copyright © 1995 by the Philosophy of Science Association

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Footnotes

1

I am greatly indebted to Dr. Paul Edelson both for stimulating discussions and his generous sharing of unpublished work on the history of PKU screening.

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