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H H S Department of Health and Human Services
Health Resources and Services Administration
Maternal and Child Health

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Newborn Screening

Newborn screening and genetics public health infrastructure initiatives help support State newborn screening and genetics programs, integrate newborn and genetic screening programs with other community services and medical homes, and strengthen existing newborn and genetic screening and service programs.  Most human disease results from a combination of inherited genetic variations and environmental factors (such as lifestyle, social conditions, chemical exposures, and infections).  Advances in genetic medicine need to be integrated into the science and art of preventing disease, prolonging life and promoting health through the organized efforts and informed choices of society, organizations, public and private, communities and individuals.

Activities

All States and Washington, DC have newborn screening programs. These programs help integrate genetics into public health and population health by supporting state newborn screening programs, genetic education programs and health information technology initiatives that work to link families, consumers and providers.

Newborn screening and genetics public health infrastructure initiatives seek to build on these programs to implement projects in the following areas:

  • Needs assessment for State newborn screening programs, genetics programs, and service systems
  • Integration of newborn screening and genetic services for newborns and children who have, or are at risk of having, heritable disorders into existing State systems of care, which are networks of services and supports that meet the diverse and changing needs of mothers, children, and families, including those with special health needs
  • Evaluation of new technologies, such as the use of tandem mass spectrometry and DNA-based technologies, for diagnosis and in screening programs
  • Development of guidelines for genetic and newborn screening services and uniform State newborn screening program standards

Highlights

Effective Follow-up in Newborn Screening Initiative 

  • The goal of follow-up requires effective and timely communication and information sharing among patients/families, clinicians, laboratorians, public health agencies, researchers, and relevant community support services.
  • The initiative focuses on the use of electronic health information exchange (HIE) to improve the newborn screening system, with attention to both short and long-term follow-up.
  • The grantees are implementing systems that facilitate meaningful electronic HIE for attaining effective short-term and long-term follow-up of children and youths with conditions identified by newborn screening, including the collection of clinical data to determine health outcomes. These outcomes will provide an assessment of the impact of the newborn screening system specifically related to short and long-term follow-up efforts.

Regional Genetics and Newborn Screening Service Collaboratives (RCs) respond to legislative requirements of the Heritable Disorders Program under Public Health Service Act, 42 U.S.C.300b-10,"Screening for Heritable Disorders," as amended in the “Newborn Screening Saves Lives Act of 2008.  

  • The RCs implement activities to improve the ability and capacity of States across the country and US Territories to provide genetics and expanded newborn and child screening services for heritable disorders, and to improve education, outreach, coordinated follow-up care, and laboratory quality and surveillance for newborn screening.  The program infrastructure includes seven Regional Genetics and Newborn Screening Service Collaboratives (RCs).  Regional activities are the collaboration of State public health agencies, geneticists and other sub specialists, primary care providers, newborn screening and genetic testing laboratories, and consumers.  The Collaboratives take a regional approach to improve access to services, quality care, and genetics expertise in a medical home environment that is culturally sensitive.  The goal is to improve the health outcomes of individuals affected with heritable disorders over the life span and their families; especially populations medically underserved and in rural areas.  RC projects utilize long distance strategies (telemedicine), advanced newborn screening technologies, health information technology, quality assurance, quality improvement measures. Interregional activities of national significance include implementation of laboratory quality assurance, long-term follow-up program systems, laboratory and clinical emergency preparedness, and annual national reports of common program performance and outcome measures. 

Resources

The National Coordinating Center (NCC) for the Regional Collaboratives (RCs) is responsive to the priorities of the Heritable Disorders Program under Public Health Service Act, 42 U.S.C.300b-10,"Screening for Heritable Disorders," as amended in the “Newborn Screening Saves Lives Act of 2008. The NCC serves as the primary vehicle for:  information sharing among the RCs; the collaborative development, implementation, and dissemination of projects of interregional and national significance; and the evaluation of the implementation of RC activities.   NCC activities include:  activity matrices of current and completed RC activities; 3 national annual evaluations of RC activities; and editions of the official NCC newsletter, “NCCCollaborator”. Key NCC ongoing projects are:  ACTion Sheets and Confirmatory Algorithms for conditions screened in newborn screening designed for short term actions by primary care providers; ACT Sheets for Carrier Conditions, Transition from pediatric to adult care, and Family History.  NCC Work groups developed for RC information sharing and national collaboration include: Emergency Preparedness, Long–Term Follow-up, Telegenetics, Medical Home, and Publications. All NCC work is posted on the website -  http://www.nccrcg.org/. (Note:  a map of the Regional Collaborative Grant Program with an electronic link to each of the 7 RCs.)
 
The National Consumer Center for Genetic Resources and Services works to enhance access to quality information, the sharing of quality and vetted resources, peer-to-peer partnership, and organizational development resources in order to achieve parity in access and to increase the quality of care. http://geneticalliance.org/

Baby's First Test is a objective resource for expecting and new parents to learn about newborn screening and is a place for families and health professionals to share their questions and experiences. See the video vignette depicting a discussion of newborn screening in a prenatal office visit setting. http://www.babysfirsttest.org/

A clinician with a mother and infant patient

Newborn Screening Key Resources

Newborn Screening: Toward a Uniform Screening Panel and System is a report from HRSA and the American College of Medical Genetics (ACMG) that 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. More >

Baby's First Test Exit Disclaimer. helps expecting and new parents  learn about newborn screening and lets families and health professionals share questions and experiences. See the video vignette Exit Disclaimer. depicting a discussion of newborn screening in a prenatal office visit setting. Funded by a HRSA Cooperative Agreement.

The Secretary's Advisory Committee on Heritable Disorders works to reduce morbidity and mortality in newborns and children who have or are at risk for heritable disorders, such as sickle cell anemia, cystic fibrosis and hearing impairment.