Newborn Screening
Vol. 21
Summer 2005
Newborn Screening in the 21st Century
From the Editors and Authors: Since our last Update on Newborn Screening in 1998, there has been significant expansion of newborn screening programs in various regions of the country, mostly to include metabolic disorders identifiable by tandem mass spectrometry. States in our region are just now starting to expand their programs. The Summer 2005 Genetic Drift provides an update on newborn dried blood spot screening (NBS). Specifically, this Genetic Drift issue explains for health care providers the new laboratory techniques (tandem mass spectrometry or MS/MS) used to screen for a large number of metabolic disorders, provides a brief and simple description of the main categories of disorders that can be identified by MS/MS, and differing ethical views on newborn screening expansion. Some of the views expressed in the articles differ from those of the Editors or other Authors. However, it is important to present different viewpoints of this important public health service to the readers to allow them to recognize the challenges we face in this genomic age. At the national level, the American College of Medical Genetics (ACMG) has issued a comprehensive report supporting the expansion and uniformity of newborn screening panels among different States. This report presents one of the rare evidence-based recommendations in favor of screening neonates for additional disorders. A brief summary of the criteria used to identify disorders to be included in newborn screening programs and a list of the disorders identified is also provided in this issue of Genetic Drift. Newborn screening programs are probably one of the best examples on how advances in genetic research can be translated into medical care and preventive medicine. Newborn screening can work well only if there is a close collaboration between the public health sector, laboratory medicine, metabolic specialists, and the medical home of affected
Summer 2005
Newborn Screening in the 21st Century
From the Editors and Authors: Since our last Update on Newborn Screening in 1998, there has been significant expansion of newborn screening programs in various regions of the country, mostly to include metabolic disorders identifiable by tandem mass spectrometry. States in our region are just now starting to expand their programs. The Summer 2005 Genetic Drift provides an update on newborn dried blood spot screening (NBS). Specifically, this Genetic Drift issue explains for health care providers the new laboratory techniques (tandem mass spectrometry or MS/MS) used to screen for a large number of metabolic disorders, provides a brief and simple description of the main categories of disorders that can be identified by MS/MS, and differing ethical views on newborn screening expansion. Some of the views expressed in the articles differ from those of the Editors or other Authors. However, it is important to present different viewpoints of this important public health service to the readers to allow them to recognize the challenges we face in this genomic age. At the national level, the American College of Medical Genetics (ACMG) has issued a comprehensive report supporting the expansion and uniformity of newborn screening panels among different States. This report presents one of the rare evidence-based recommendations in favor of screening neonates for additional disorders. A brief summary of the criteria used to identify disorders to be included in newborn screening programs and a list of the disorders identified is also provided in this issue of Genetic Drift. Newborn screening programs are probably one of the best examples on how advances in genetic research can be translated into medical care and preventive medicine. Newborn screening can work well only if there is a close collaboration between the public health sector, laboratory medicine, metabolic specialists, and the medical home of affected