Newborn screening: rationale for a comprehensive, fully integrated public health system

Newborn screening has existed for approximately four decades [1]. During that period of time, newborn screening has evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part public health system involving education, screening, diagnostic follow-up, t...

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Detalles Bibliográficos
Autores principales: McCabe, Linda L., Bradford L., Therrell Jr., McCabe, Edward R.B.
Formato: Artículo
Lenguaje:Inglés
Publicado: Universidad de Belgrano - Documentos CEEGMD - Centro para el estudio de enfermedades genéticas, metabólicas y discapacidades. Facultad de Ciencias Exactas 2014
Materias:
PKU
Acceso en línea:http://repositorio.ub.edu.ar/handle/123456789/2876
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Sumario:Newborn screening has existed for approximately four decades [1]. During that period of time, newborn screening has evolved conceptually from a laboratory test for a single disorder, phenylketonuria (PKU), to a multi-part public health system involving education, screening, diagnostic follow-up, treatment/management, and system evaluation [2–5]. At a time when newborn screening is recognized as a model for predictive medicine [6,7], it also faces critical challenges that will determine its future credibility and viability. In order to understand these challenges, it is helpful to review briefly the history of newborn screening.