Journal of Inherited Metabolic Disease

, Volume 34, Issue 3, pp 569–574 | Cite as

Newborn screening: how are we travelling, and where should we be going?

  • Bridget Wilcken
SSIEM Symposium 2010


In general, newborn screening is now a highly successful enterprise. The introduction of tandem mass spectrometry in the mid-1990s changed the pace of screening, raising its profile and increasing its relevance to a wider range of health professionals. The clinical effectiveness is not in doubt for some conditions, but is lacking for others. Evaluation has major difficulties for the rarer disorders and has been sadly neglected. Partly because clinical effectiveness has not been enthusiastically addressed, but also because of undue caution on the part of regulators, who often seem to ignore available evidence, there are huge differences in the adoption of screening programmes in different jurisdictions. New treatments, especially mutation-specific treatments, and technological advances in diagnostic testing are being rapidly developed, and this will further change the face of newborn screening and probably magnify these differences. The challenges will be considerable, especially with the increasing availability of DNA testing at modest cost. It is likely that there will be pressure to change the aims of newborn screening to encompass “personalised medicine”. We must all prepare in a thoughtful way for these future challenges.


Cystic Fibrosis Enzyme Replacement Therapy Newborn Screening Duchenne Muscular Dystrophy Congenital Hypothyroidism 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.


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Copyright information

© SSIEM and Springer 2011

Authors and Affiliations

  1. 1.The Children’s Hospital at WestmeadWestmeadAustralia
  2. 2.University of SydneySydneyAustralia

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