These resources provide additional information about newborn screening and related codes and data standards.
Genetics Home Reference (GHR) is the National Library of Medicine (NLM®) Web site for consumer information about genetic conditions and the genes or chromosomes related to those conditions. This resource offers consumer-friendly summaries of all of the health conditions recommended for newborn screening in the HRSA/ACMG report.
This consumer resource from the National Library of Medicine provides links to a variety of reputable sources of information about newborn screening.
Many parents are unaware of the conditions included in screening, or that it varies from state to state. Baby's First Test brings together resources to help guide parents and health professionals alike. The Newborn Screening Clearinghouse housed on BabysFirstTest is supported by the Health Resources and Services Administration (HRSA) of the U.S. Department of Health and Human Services (HHS) under Cooperative Agreement no. U36MC16509 (Quality Assessment of the Newborn Screening System).
The Newborn Screening Technical assistance and Evaluation Program (NewSTEPs), funded through a cooperative agreement to the Association of Public Health Laboratories (APHL) by the Genetic Services Branch of the Health Resources and Services Administration (HRSA), provides quality improvement initiatives, an innovative data repository and technical resources for newborn screening programs.
The NNSGRC provides information about newborn screening and genetics to benefit health professionals, the public health community, consumers, and government officials.
This report from the Health Resources and Services Administration (HRSA) and American College of Medical Genetics (ACMG) outlines the standardization of outcomes and guidelines for state newborn screening programs and defines responsibilities for collecting and evaluating outcome data, including a recommended uniform panel of conditions to include in state newborn screening programs.
Genetic Alliance is a health advocacy organization that connects members of parent and family groups, community organizations, disease-specific advocacy organizations, professional societies, educational institutions, corporations, and government agencies to create novel partnerships. It engages in improving access to information for individuals, families and communities, while supporting the translation of research into services.
This statement from the American College of Medical Genetics and the American Society of Human Genetics (ASHG) offers guidelines for the use of tandem mass spectrometry in newborn screening programs.
ACMG has developed ACTion (ACT) sheets that describe the short-term actions a health professional should follow in communicating with the family and determining the appropriate steps in the follow-up of an infant who has screened positive. Algorithms present an overview of the basic steps involved in determining the infant's diagnosis.
This report from the Office of the Assistant Secretary for Planning and Evaluation of the U.S. Department of Health & Human Services (HHS) presents the rationale for designing and implementing a web-based information exchange intended to support the newborn screening information needs of a community using disparate and heterogeneous information systems with limited system interoperability. The proposed interchange will provide a conduit to facilitate newborn screening information exchange, allow assessment of program performance and improve quality of care.
In 2009, Downing et al. described the potential benefits of using health information technology (IT) for newborn screening and the initial steps that had been taken to enable the use of health IT. In this update, we summarize the efforts over the last 5 years to make health IT use for newborn screening a reality.
The Committee was chartered in February 2003 to advise the Secretary regarding the most appropriate application of universal newborn screening tests, technologies, policies, guidelines and standards for effectively reducing morbidity and mortality in newborns and children having, or at risk for, heritable disorders.
This article, originally published by the American Academy of Pediatrics (AAP) in the journal Pediatrics, suggests a system of nomenclature that correlates the panel of disorders recommended for newborn screening in the HRSA/ACMG report with the accepted nomenclature for health conditions and related screening analytes.
The Newborn Screening Saves Lives Act of 2007, signed into law on April 24, 2008 as Public Law 110-204, authorizes new programs through HRSA for education and outreach regarding the importance and availability of newborn screening. The bill also establishes an Interagency Coordinating Committee on Newborn and Child Screening with representation from HRSA, NIH, the Centers for Disease Control and Prevention (CDC), and the Agency for Healthcare Research and Quality (AHRQ). The title changed to the Newborn Screening Saves Lives Act of 2008 as part of a technical correction act passed May 27, 2008 (P.L. 110-237).
This Web site provides a table of the core and secondary conditions recommended for newborn screening in the HRSA/ACMG report.
The ACMG Web site offers a downloadable version of this entire report on newborn screening recommendations.
This document from the American Association for Clinical Chemistry (AACC) offers guidelines for follow-up testing to confirm a diagnosis suggested by newborn screening. It focuses on metabolic disorders identified using tandem mass spectrometry.
The U.S. National Screening Status Report specifies which newborn screening tests are required by each state and lists the status of newborn screening in the United States provided by the National Newborn Screening and Genetics Resource Center (NNSGRC).
The Federal Advisory Committee on Heritable Disorders in Newborns and Children periodically produces white papers and reports to the Secretary of the U.S. Department of Health and Human Services. Along with providing their recommendations, these reports and papers address the mission of the committee, to reduce morbidity and mortality in newborns and children who have, or are at risk for, heritable disorders.