Baton Rouge – The Department of Health is finalizing new regulations for the screening of an additional 18 genetic diseases in newborn babies. Previously, only 10 genetic disorders were screened for at birth.
About 65,000 babies are born in Louisiana each year and receive screenings for genetic diseases before they leave the hospital. The tests identify disorders from sickle cell anemia to cystic fibrosis to metabolic disorders that can cause mental retardation.
According to Charlie Myers, administrator of the Genetic Diseases Program, “Since we’ve begun the expanded screening, disorders have been detected in 33 children. If these disorders were not discovered and were left untreated, they could become catastrophic health problems.”
The new regulations are also welcome news to hospitals as they streamline the requirements for routine repeat testing. The regulations include requirements for follow-up action which is taken to ensure the infant with a positive screening result is immediately referred to specialized care.
“This effort is about ensuring the well being of our children from day one,” said LDH Secretary Alan Levine. “The more diseases we are able to detect earlier, the better we are able to prevent long-term problems by starting treatment as soon as possible. I’m proud of the Office of Public Health for implementing great recent advances in science and technology for the benefit of our state’s youngest.”
This effort is a result of legislation passed during the 2006 Legislative Session. Since that time, a pilot program has been in place to ease the new testing measures into hospitals throughout the state. The regulations went into effect on March 20, 2008.
For more information on the Louisiana Newborn Heel Stick Screen Program, check the Genetic Diseases Program Web site at http://www.genetics.dhh.louisiana.gov/ or call the Genetics office at (504) 219-4413.