A New Horizon for Newborn Screening

Abstract

MANY OF US remember a time when mental retardation (MR) affected significant numbers of children and adults. Before the 1960s, phenylketonuria (PKU) and several other preventable causes of developmental delay severely disabled thousands of children each year. Brosco, Mattingly, and Sanders (2006) reported that between 1950 and 2000, detection and treatment programs for seven conditions associated withMR (congenital syphilis, Rh hemolytic disease of newborns, measles, Haemophilus influenzae B meningitis, congenital hypothyroidism, PKU, and congenital rubella syndrome) reduced their prevalence from 16.5% to 0.005% as causes of MR in the United States. Although this is an impressive drop, Brosco et al. noted that these conditions represent only a small part of the overall prevalence of MR today. Nevertheless, this valuable review affirms the direction taken in the 1960s, led by President Kennedy with the establishment of federal programs using the findings of scientific research to ameliorate disease and disability. In 2005, the American Academy of Pediatrics supported a report from the American College of Medical Genetics recommending that state newborn screening programs adopt testing for a basic panel of 29 congenital conditions (many of them rare metabolic disorders) with the addition of 25 treatable conditions, all detectable using tandem mass spectrometry, a technology capable of rapidly and cheaply screening hundreds of dried blood spots available since the 1990s (American Academy of Pediatrics Newborn Screening Authoring Committee, 2008). This report was also endorsed by the U.S. Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children, and over the past few years, nearly all the states have instituted expanded newborn screening aimed at finding and treating affected