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.
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:
Effective Follow-up in Newborn Screening Initiative
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 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/
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 helps expecting and new parents learn about newborn screening and lets families and health professionals share questions and experiences. See the video vignette 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.