Rare Diseases: President Signs Newborn Screening Saves Lives Reauthorization Act
On December 18th, U.S. President Obama signs into law the Newborn Screening Saves Lives Reauthorization Act of 2014 (H.R. 1281). This legislation reauthorizes and revises authorities for newborn screening activities carried out by the Department of Health and Human Services. New timetables and tracking methods are implemented to eliminate both the delays in the newborn screening process and the delays in sharing of information with providers and families.
Newborn screening started in the U.S. about 50 years ago. Newborn screening tests every newborn for medical conditions that can cause illness, developmental delays, and disabilities. It is an important tool for detecting rare genetic diseases. By screening newborns, this can help to facilitate early treatment of diseases. More than 98% of all newborns now undergo screening in the U.S. for 29 treatable conditions.
Most of the diseases that newborns are screened for are rare conditions. Screening for these conditions is performed on a sample of blood obtained by pricking the baby’s heel. The blood sample is usually taken within the first few days of life.
The Save Babies Through Screening Foundation has links for all of the states to find out about each state’s newborn screening program and also provides a list of disorders that are screened. For example in New York State, the following are a few disorders that are screened in newborns:
• Sickle cell disease
• Cystic fibrosis
• Severe Combined Immunodeficiency (SCID)
Some of the features of the Newborn Screening Saves Lives Reauthorization Act:
• Extends through FY2019 (Fiscal Year 2019) a grant program for screening, counseling, and other services related to heritable disorders detected in newborns. The purpose is to improve the timeliness of newborn screening and the sharing of medical and diagnostic information with families and providers
• Extends for 5 years, the Advisory Committee on Heritable Disorders in Newborns and Children
• Extends through FY2019, the clearinghouse for newborn screening information
• Extends through FY2019, requirements for the Director of the Centers for Disease Control and Prevention (CDC) to provide quality assurance of laboratories performing newborn and children screening for heritable disorders.
Please Note: “Newborn Screening” courtesy of the National Human Genome Research Institute (NHGRI)/National Institutes of Health (NIH) – Public Domain.