Newborn screening for inborn errors of metabolism: Principles, policies and weighing the evidence

Paediatrics and Child Health

Volumn 21, Issue 2, 2011, Pages 56-60

  Leonard, J V ^a   Dezateux, C ^b  

^a UNIVERSITY COLLEGE LONDON   (United Kingdom)

^b MEDICAL RESEARCH COUNCIL   (United Kingdom)

Author keywords

Genetic testing; Health policy; Healthcare evaluation mechanisms; High throughput screening assays; Infant, newborn; Mass screening; Metabolism, inborn errors; Neonatal screening; Public health practice; Tandem mass spectrometry

Indexed keywords

ASSAY; CLINICAL PRACTICE; COST BENEFIT ANALYSIS; GENETIC SCREENING; HEALTH CARE DELIVERY; HEALTH CARE POLICY; HIGH THROUGHPUT SCREENING; HUMAN; INBORN ERROR OF METABOLISM; MASS SCREENING; MEDICAL DECISION MAKING; MEDICAL ETHICS; NEWBORN; NEWBORN SCREENING; PRACTICE GUIDELINE; REVIEW; SCREENING TEST; TANDEM MASS SPECTROMETRY; UNITED KINGDOM; WORLD HEALTH ORGANIZATION;

EID: 79951476185     PISSN: 17517222     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.paed.2010.10.011     Document Type: Review

References (7)

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3. Human Genetics Society of Australasia HGSA-RACP Newborn Screening Joint Subcommittee. Newborn blood spot screening 2008.
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5. National Screening Committee. Criteria for appraising the viability, effectiveness and appropriateness of a screening programme. London: Department of Health, 2003. (accessed Sep 2010). http://www.library.nhs.uk/screening.
6. Wilcken B. Expanded newborn screening: reducing harm, assessing benefit. J Inherit Metab Dis 2010, 10.1007/s10545-010-9106-6.
7. Wilson J.M.G., Jungner G. Principles and practice of screening for disease 1968, World Health Organization, Geneva.