Newborn screening: new developments, new dilemmas.
Scientific and technological advances are lending pressure to expand the scope of newborn screening. Whereas this has great potential for improving child health, it also challenges our current perception of such programmes. Standard newborn screening programmes are clearly justified by the fact that early detection and treatment of affected individuals avoids significant morbidity and mortality. However, proposals to expand the scope and complexity of such testing are not all supported by a similar level of evidence for unequivocal benefit. We argue that screening for genetic susceptibility to complex disorders is inherently different from standard screening and, while of potential value, must be considered separately from conventional testing.
Department of Paediatrics and Child Health, Dunedin School of Medicine, University of Otago, PO Box 913, Dunedin, New Zealand. nikki.kerruish@stonebow.otago.ac.nz
N J
NJ
Kerruish
S P
SP
Robertson
D003920:Diabetes Mellitus / Q000235:genetics / Q000517:prevention & control; D020022:Genetic Predisposition to Disease; D005820:Genetic Testing / Q000941:ethics / Q000379:methods; D006801:Humans; D007231:Infant, Newborn; D007232:Infant, Newborn, Diseases / Q000175:diagnosis*; D007258:Informed Consent; D015997:Neonatal Screening / Q000941:ethics*; D010290:Parents / Q000523:psychology; D026684:Personal Autonomy; D010661:Phenylketonurias / Q000175:diagnosis; D012935:Social Justice / Q000941:ethics