Newborn blood spot screening: new opportunities, old problems.

ABSTRACT

Newborn screening is evolving very rapidly. Geographical coverage is expanding, particularly for common disorders such as congenital hypothyroidism. New technologies, particularly tandem mass spectrometry and high throughput mutation analysis, have increased greatly the range of disorders which could be covered. However, these new possibilities are being exploiting at very different rates in different countries. This is due in part to the different ways in which generally-accepted screening criteria, based on the ten principles of Wilson and Jungner, are being interpreted and applied to policy. The appropriate management of some of the conditions newly-detectable by screening also remains controversial and there is a pressing need to align screening policy and clinical practice. Critical analysis and careful collection of data on an international basis are required to resolve these issues.