NICHD has been at the forefront of newborn screening efforts since the 1960s. One of the Institute's earliest research successes was validation of the mass screening test developed by Dr. Robert Guthrie for the metabolic disorder phenylketonuria (PKU).1
NICHD's mission has always included conducting, promoting, and funding research to detect, treat, and even prevent diseases, including those that cause intellectual and developmental disabilities (IDDs) and other lifelong health problems.1
One of the Institute's early research efforts was a study of the effectiveness of the Phe-restricted diet for children diagnosed with PKU. This research showed that children with PKU who followed a restricted diet (one with limited amounts of the amino acid, Phe) 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 Today, children with PKU have outcomes similar to children who don't have PKU, and many go on to have their own healthy families.
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 screening. 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 Recommended Universal Screening Panel (RUSP). ACMG assigned another 25 conditions to a secondary level of screening because the conditions lacked an effective treatment or because the disease was not well understood. The remaining conditions were deemed not appropriate for newborn screening because no effective screening tool or treatment was available for them.3
In 2003, the majority of U.S. states screened for only six disorders. Since then, understanding of the importance of newborn screening has increased significantly. By April 2011, all states were testing for at least 26 disorders.4 Today, all states screen for at least 29 conditions.
ACMG also came up with procedures for adding conditions to the RUSP, namely that a condition should meet three minimum criteria:
- The condition can be detected 24 to 48 hours after birth, when it cannot usually be detected by a doctor's exam.
- It has a test that is specific and sensitive for the condition.
- Its early detection, timely intervention, and effective treatment offer proven benefit.5
In February 2003, the Advisory Committee on Heritable Disorders in Newborns and Children (ACHDNC) was formed to advise the HHS Secretary on newborn screening.6 ACHDNC 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, ACHDNC recommended the RUSP to the HHS Secretary 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 As of November 2016, the RUSP included 34 core conditions and 26 secondary conditions.8
The Newborn Screening Saves Lives Act of 2007 (P.L. 110-204) (PDF - 138 KB), reauthorized in 2014, (P.L. 113-240) (PDF – 216 KB) included several provisions to expand and strengthen newborn screening nationwide:
- Established the Clearinghouse of Newborn Screening Information (Baby's First Test )
- Expanded the responsibilities of the ACHDNC
- Authorized the renaming of NICHD's research program in newborn screening as the Hunter Kelly Newborn Screening Research Program
- Established a program to regulate the quality of laboratories that process the newborn screening tests3
NICHD supports the adoption of RUSP and participates in many efforts related to newborn screening research at the federal, state, and local levels. NICHD remains committed to improving newborn screening programs, technologies, and treatments.
- Alexander, D. (2003). The National Institute of Child Health and Human Development and phenylketonuria. Pediatrics, 112, 1514-1515.
- Baby's First Test. (2012). Screening resources. Retrieved February 20, 2017, from http://www.babysfirsttest.org/screening-resources
- Secretary's Advisory Committee on Heritable Disorders in Newborns and Children. (2011). 2011 annual report to Congress. Retrieved February 20, 2012, from https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/2011-annual-report.pdf (PDF 871 KB)
- Centers for Disease Control and Prevention. (2011). Ten great public health achievements—United States, 2001-2010. Morbidity and Mortality Weekly Report, 60, 619–623. Retrieved February 20, 2017, from http://www.cdc.gov/mmwr/preview/mmwrhtml/mm6019a5.htm
- American College of Medical Genetics. (n.d.). Newborn screening: Toward a uniform screening panel and system. Retrieved August 29, 2012, from http://www.ncbi.nlm.nih.gov/pubmed/16735256
- Health Resources and Services Administration.(n.d.) Secretary's Advisory Committee on Heritable Disorders in Newborns. Retrieved February 20, 2017, from https://www.hrsa.gov/advisory-committees/heritable-disorders/index.html
- Sebelius, K. (2011). Letter to R. Rodney Howell, M.D. Retrieved February 20, 2017, from https://www.hrsa.gov/sites/default/files/hrsa/advisory-committees/heritable-disorders/reports-recommendations/response-congenital-cyanotic.pdf (PDF 211 KB)
- Advisory Committee on Heritable Disorders in Newborns and Children. (2016). Recommended Uniform Screening Panel. Retrieved July 11, 2017, from https://www.hrsa.gov/advisorycommittees/mchbadvisory/heritabledisorders/recommendedpanel/index.html