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Newborn Screening

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Newborn screening is a test done once a baby is born to detect possible genetic diseases. Newborn screening is conducted using a dried blood spot specimen and a simple hearing test. These tests do not confirm if a baby has a genetic disease, but can provide early detection that make seeking treatment and managing a condition easier.

Why support Newborn Screening?

Genetic Alliance believes that newborns should be screened for specific genetic conditions. Currently, every state screens newborns for a broad range of genetic disorders. Most of the birth defects have no immediate visible effects on an infant but, unless detected and treated early, they can have negative effects on physical and mental development.

  • Presently all U.S. states screen newborns for phenylketonuria (PKU), a disorder where the infant cannot process a part of protein found in nearly all foods called phenylalanine. Without treatment, phenylalanine builds up in the bloodstream and causes brain damage and mental retardation. When PKU is detected early, mental retardation can be prevented.
  • Along with PKU, all states screen newborns for hypothyroidism, and most screen for galactosemia.

What has Genetic Alliance done to support Newborn Screening?

On February 19, 2020, White House Office of Science and Technology Policy (OSTP) opened up a new Request for Information (RFI) on the issue of Public Access to the Results of Federally Funded Research.

  • Genetic Alliance currently staffs a web resource called Baby’s First Test. Baby’s First Test contains state-specific information on newborn screening as well as other educational resources such as what to expect from the newborn screening process, condition specific information, and an interactive blog. We invite you to take advantage of this resource, by clicking here.
  • Genetic Alliance has also written to Congress on the funding of Maternal and Child Health programs as well as the retention and use of residual dried blood spot specimens in research.

Genetic Alliance's Previous Statements on Newborn Screening

Genetic Alliance Applauds Establishment of the Discretionary Advisory Committee on Heritable Disorders in Newborns and Children (DACHDNC), May 22, 2013

Genetic Alliance Opposes Cuts to Maternal and Child Health, February 14, 2011

Natasha Bonhomme Presents Public Comments to HIT Policy Committee Regarding Inclusion of NBS as an Area of Focus for Meaningful Use for 2013July 29, 2010

Genetic Alliance Submits Recommendations Regarding the Retention and Use of Residual Dried Blood Spot Specimens after Newborn Screening, July 1, 2010

 

 

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