Introducing new screens: why are we all doing different things?

J Inherit Metab Dis. 2007 Aug;30(4):423-9. doi: 10.1007/s10545-007-0647-2. Epub 2007 Jul 6.


The disease panels covered by newborn blood spot screening vary greatly from country to country. There are different interpretations of the Wilson and Jungner principles and of underlying data in the scientific literature, and great disparities between the value judgements applied in screening and in routine clinical practice.

MeSH terms

  • Genetic Predisposition to Disease
  • Genetic Techniques
  • Health Policy
  • Humans
  • Infant, Newborn
  • Mass Spectrometry / methods
  • Metabolism, Inborn Errors / diagnosis*
  • Metabolism, Inborn Errors / genetics*
  • Neonatal Screening / methods*
  • Sensitivity and Specificity