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- ACHDNC —
- Advisory Committee on Heritable Disorders in Newborns and Children
- ACMG —
- American College of Medical Genetics
- CCHD —
- critical congenital heart disease
- NBS —
- newborn screening
- RUSP —
- Recommended Uniform Screening Panel
Newborn screening (NBS) began 50 years ago with the ability to screen for phenylketonuria from dried-blood spots and prevent long-term disability through dietary intervention. Now nearly all of the 4 million infants born in the United States are screened for a wide array of significant medical conditions by using dried-blood spots and point-of-care tests, leading to early diagnosis and treatment of more than 12 500 newborns each year.1 NBS is an unqualified public health success; it saves lives, prevents severe disability, and is a good use of limited health care dollars. NBS is not a test, but a complex system that includes the initial screen to identify infants with a high probability of having the condition, a follow-up diagnostic test to identify true cases, and the ongoing treatment of the condition. To make this system efficient and effective requires several key players, including public health, primary and specialty care providers, and families. On this anniversary of NBS, we would like to share our reflections on these 3 perspectives, acknowledging that they capture only some of the important considerations and advances in NBS.
THE PUBLIC HEALTH PERSPECTIVE: COLEEN BOYLE WRITES
Ten years ago, there was considerable variation in NBS, with as few as 3 to as many as 45 conditions included in state screening panels. In 2004, under guidance from the Health Resources Services Administration, the American College of Medical Genetics (ACMG), by using an expert-informed review process, recommended an NBS panel of 29 disorders.2 Concurrent with this recommendation, the Newborn Screening Saves Lives Act authorized a federal advisory committee (the Advisory Committee on Heritable Disorders in Newborns and Children [ACHDNC]) to provide guidance to the Secretary of the Department of Health and Human Services on the practice of NBS in the United States. This led to the development of the ACHDNC Recommended Uniform Screening Panel …
Address correspondence to Coleen Boyle, PhD, National Center on Birth Defects and Developmental Disabilities, Centers for Disease Control and Prevention, 1600 Clifton Rd NE, Atlanta, GA 30333. E-mail: cboyle{at}cdc.gov
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