The NICHD has led efforts on newborn screening since the Institute was founded in 1962. One of the new Institute's earliest research successes was validation of the screening test for phenylketonuria (PKU), which was developed by Dr. Robert Guthrie in the late 1950s. The NICHD's mission has always included conducting, promoting, and funding research on ways to detect, treat, and even prevent diseases, including those that cause intellectual and developmental disabilities (IDDs) and other lifelong health problems.1
Another of the Institute's early research efforts was a study of the effectiveness of the restricted diet for children diagnosed with PKU. This research showed that children with PKU who followed a restricted diet were as healthy at age 7 years as their brothers and sisters who did not have PKU. With an effective and efficient screening technology available, and a proven treatment for it, PKU became the first disorder for which newborns were routinely screened. As a result, every state soon required screening for PKU.1 For more than 50 years, newborn screening has been saving children's lives and improving their quality of life as a result.
The NICHD continues its involvement in newborn screening. NICHD and its staff aim to identify additional conditions to screen for, develop and test better ways to screen for conditions, study treatments and ways to improve outcomes, educate health care providers about newborn screening, participate in governmental efforts to coordinate and regulate state programs in newborn screening, and sponsor research and training programs related to newborn screening.2
In 2002, the federal Health Resources and Services Administration's Maternal and Child Health Bureau asked the American College of Medical Genetics (ACMG) to develop guidelines for newborn screenings. At that time, some states screened for as few as four conditions and others as many as 50.3
The ACMG looked at 81 conditions and placed 29 of them in a core screening panel, which made up the original RUSP. ACMG assigned another 25 conditions to a secondary level of screening because they lacked an effective treatment or because the disease was not well understood. At that time, the remaining 27 conditions were not appropriate for newborn screening because no effective screening tool or treatment was available for them.3
As late as 2003, all but four states screened for only six disorders. Since then, understanding of the importance of newborn screening has exploded. By April 2011, all states were testing for at least 26 disorders.4
ACMG also came up with procedures for adding conditions to the RUSP; to be included in the RUSP, a condition should meet three minimum criteria:
In February 2003, the Secretary's Advisory Committee on Heritable Disorders in Newborns and Children (SACHDNC) was formed to advise the Secretary of Health and Human Services (HHS) on newborn screening.6 SACHDNC worked closely with the ACMG as progress was made toward developing the RUSP and determining whether it could truly serve as a uniform standard for the whole United States.
In September 2005, SACHDNC recommended the RUSP to the Secretary of HHS as the nation's newborn screening standard. It was adopted in May 2010 with the addition of severe combined immunodeficiency (SCID).3 The list of screened disorders has since expanded to include critical congenital cyanotic heart disease.7
The Newborn Screening Saves Lives Act of 2007 (P.L. 110-204) (PDF - 138 KB) included a number of provisions to expand and strengthen newborn screening nationwide:
The NICHD supports the implementation of RUSP and participates in many efforts related to newborn screening at the federal, state, and local levels. The NICHD remains committed to improving newborn screening programs, technologies, and treatments.
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