Abstract
The newborn screening paradigm of testing all newborns in the United States for treatable conditions within the first few hours of birth has proven to be a remarkable success story in the realm of public health by reducing neonatal and childhood morbidity and mortality. The Newborn Screening Saves Lives Act of 2007 and its successor, the Reauthorization Act of 2014, legislated the establishment of a Department of Health and Human Services Advisory Committee to make recommendations around newborn screening and a methodology to establish and add new conditions to a Recommended Uniform Screening Panel (RUSP) which currently includes 34 core conditions. In spite of the absence of a federal mandate that requires each of the states in the U.S. to screen for the disorders on the RUSP, most state public health laboratories have adopted the conditions on this panel. Moreover, the evolution of the evidence-based review process for adding new conditions to the RUSP has led to improvements in incorporating the public health impact and feasibility and implementation considerations. The cooperation between the federal partners who support implementation and rollout of state-based screening programs, develop technical standards and proficiency materials for laboratories, review and approve new technology platforms, and promote research to develop new assays and treatments for screenable disorders, points to the success of the newborn screening enterprise nationwide. As new technologic advances are made in the realm of genomic sequencing, the potential for incorporating these technologies holds great promise for newborn screening, but the ethical ramifications must be carefully considered to avoid harming the existing trust in the program.
Abbreviations
- ACHDNC:
-
Advisory Committee on Heritable Disorders in Newborns and Children
- ACMG:
-
American College of Medical Genetics and Genomics
- APHL:
-
Association of Public Health Laboratories
- CCHD:
-
Critical Congenital Heart Disease
- CDC:
-
Centers for Disease Control and Prevention
- CLIR:
-
Collaborative Laboratory Integrated Reports
- CRF:
-
case report forms
- ELSI:
-
Ethical, Legal and Social Issues
- HHS:
-
Department of Health and Human Services
- HRSA:
-
Health Resources and Services Administration
- IRB:
-
Institutional Review Board
- NBSTRN:
-
Newborns Screening Translational Research Network
- NHGRI:
-
National Human Genomic Research Institute
- NICHD:
-
Eunice Kennedy Shriver National Institute of Child Health and Human Development
- NICU:
-
Neonatal intensive care unit
- NIH:
-
National Institutes of Health
- PKU:
-
Phenylketonuria
- R4S:
-
Region 4 Stork
- RUSP:
-
Recommended Uniform Screening Panel
- SCID:
-
Severe Combined Immunodeficiency;
- TMS:
-
Tandem Mass Spectrometry
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Urv, T.K., Parisi, M.A. (2017). Newborn Screening: Beyond the Spot. In: Posada de la Paz, M., Taruscio, D., Groft, S. (eds) Rare Diseases Epidemiology: Update and Overview. Advances in Experimental Medicine and Biology, vol 1031. Springer, Cham. https://doi.org/10.1007/978-3-319-67144-4_19
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