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Neonatal screening: from the ‘Guthrie age’ to the ‘genetic age’
Author(s) -
Dhondt JeanLouis
Publication year - 2007
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-007-0624-9
Subject(s) - newborn screening , medicine , pediatrics , human genetics , genetic testing , endocrine system , intensive care medicine , biology , endocrinology , genetics , gene , hormone
Summary Newborn screening has ‘traditionally’ been performed to detect metabolic or endocrine diseases that are severe, frequent and treatable, according to criteria established in the late 1960s. Technological advances in laboratory testing over the past ten years open new possibilities. However, many new problems have to be explored before the establishment or expansion of a newborn screening programme. The purpose of this paper is to present some of the major problems that screening programmes will face in the near future.