Newborn Screening

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  • Topic: Genetic disorders, Inborn errors of metabolism, Autosomal recessive disorders
  • Pages : 9 (2573 words )
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  • Published : October 25, 2012
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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 patients. It is our hope that the concepts presented in this issue will provide an opportunity for all of us to realize our shared goals and support further collaboration to promote the health of all newborns. Lastly, the Teratogen Hot Topic for this issue is on the statin medications used to treat hypercholesterolemia. Currently all statins are FDA category X, meaning not to be used during pregnancy. This issue was spearheaded by Rebecca Anderson, RN, BS (UT) and Nicola Longo, MD, PhD (UT), with additional contributions from Randy Heidenreich, MD (AZ), Marzia Pasquali, PhD (UT), Jeffrey Botkin, MD, MPH (UT), Joseph Martinec (TX) and Dee Quinn, MS, CGC (AZ). Senior Editor is Carol Clericuzio, MD (NM).

Genetic Drift Vol. 21

Summer 2005

In This Issue Expanded Newborn Screening by Tandem Mass Spectrometry (MS/MS) . 3 Tandem Mass Spectrometry: Principles and Interpretation of Results ...... 7 The American College of Medical Genetics Draft Report: .................................. 9 Newborn Screening: Toward a Uniform Screening Panel and System ....... 9 Ethical Issues in Newborn Screening ........................................................................... 12 Teratogen Hot Topic: Use of Statins in Pregnancy............................................... 15

Newborn Screening Then and Now
Nearly seven years have passed since the Genetic Drift last dealt with newborn screening. While there are many new considerations, the following review and update of the topics in the previous edition seems timely and relevant. Alternative use of newborn screening blood spots still remains an issue for programs. It is clear that these blood spots represent a “treasure-trove” of population genetic information. Yet, genetic population studies are not the goal when these specimens are initially obtained, and the vast majority of states do not obtain consent from parents for such uses. Additionally, there is significant variation in the amount of time newborn screening...
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