A vision of the future of newborn screening.
In 40 years, newborn screening has evolved to become a standard component of preventive public health. Despite its widespread acceptance, efforts need to be made to overcome some significant problems. There is inequity in the conditions for which states screen routinely, and many conditions that could be screened for are not, for economic or logistic reasons. Existing (tandem mass spectrometry) and potential (DNA microarray) technologies could be developed and put in place to correct these existing shortcomings. To do so will require investment in the technologies, combined with public and professional education and provision of a high-quality, accessible system for confirmation of diagnoses, family counseling, initiation of treatment, and the opportunity to participate in research to develop new or improved therapies.
Alexander
Duane
D
National Institutes of Health, Bethesda, MD 20892, USA.
van Dyck
Peter C
PC
D005544:Forecasting; D017408:Guidelines as Topic; D006801:Humans; D007231:Infant, Newborn; D015997:Neonatal Screening / Q000592:standards / Q000639:trends*