The history of research on phenylketonuria (PKU) provides a rich opportunity to examine an array of critical ethical and social issues that arise in the application of human genetics. Since the early 1960s, all newborns in the U.S. have been screened for the genetic disease PKU which, if untreated, leads to severe mental retardation and behavioral disorders. This screening program is generally considered the greatest success story of applied human genetics. However, its success is not unqualified. Because PKU screening has a relatively lengthy track-record, it can provide a guide to the probable trajectories and pitfalls of other screening programs. In particular, a history of this program can illuminate why solutions to problems that involve the application of science have singular appeal to the press, the public, and state officials; how even controversial screening programs, once instituted, may be quickly routinized and, once routinized, easily expanded for other purposes; how analyses of benefit and harm may come to be framed in ways that minimize the latter; how widely accepted ethical principles (as reflected in textbooks and in guidelines issued by professional organizations) may cease to inform on-the-ground practice. The project aims to provide insights of value both for policymakers and for scholars in the fields of science and technology studies and ethics and values studies. Its conclusions will be based on research in the scientific literature, supplemented by archival work and interviews with individuals involved in the early history of newborn screening. Through talks, articles and a book, the investigator aims to reach multiple audiences.
