The New England Newborn Screening Program, which is operated by UMMS, has been performing newborn screening in Massachusetts since 1962 and now provides screening for about 500 newborns every day in Massachusetts, Maine, New Hampshire, Rhode Island and Vermont SCID screening has been offered statewide in Massachusetts since early 2009 and Maine and Rhode Island recently authorized the New England Newborn Screening Program to test infants for SCID. Currently 23 states, the District of Columbia and the Navajo Nation screen approximately two-thirds of all infants born in the United States for SCID.
With data generated by these pilot programs, SCID was added to the national recommended uniform panel for newborn screened disorders in 2010. In 2008, Wisconsin and Massachusetts were awarded grants from the Centers for Disease Control to develop, demonstrate and transfer testing strategies that could be adopted by other newborn screening programs. Unlike other conditions included in newborn screening, SCID requires a DNA-based testing strategy for every infant screened. Early detection is critical for treatment of SCID and, in most cases, population-based testing through newborn screening programs is the only means to detect SCID prior to the onset of infections. However, the advance of stem cell transplantation to replace the immune system, coupled now with the opportunity to identify SCID early through newborn screening, holds the promise that affected children can lead normal, healthy lives. SCID babies are born without a developed immune system and are subject to a wide variety of life-threatening infections. The first heritable immune disorders to which newborn screening has been applied are those that together comprise severe combined immunodeficiency. Newborn screening programs enable early detection of conditions for which prompt treatments can reduce the risk of death or irreversible damage. “This paper is an excellent example of translational science and medicine yielding the successful public health system necessary for early diagnosis and treatment of SCID,” said Anne Marie Comeau, PhD, deputy director of the New England Newborn Screening Program and professor of pediatrics at UMMS. 20 issue of the Journal of the American Medical Association (JAMA) showed the rate of SCID in newborns is higher than previously thought and believed to be 1 in 58,000.
Data from 11 newborn screening programs published in the Aug. Using population-based screening outcomes of approximately 3 million infants, a team of scientists across 14 states, including four researchers at UMass Medical School, have shown that newborn screening for severe combined immunodeficiency (SCID) can be successfully implemented across public health newborn screening programs.
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