The S.C. Department of Health and Environmental Control (DHEC) has announced plans to expand the agency’s Newborn Screening program (NBS). NBS tests every newborn for difficult to diagnose metabolic disorders that disrupt the body’s natural processes. The panel of tests will include a new test for Severe Combined Immunodeficiency (SCID), a rare and potentially fatal disorder characterized by an inability to fight infections.
Newborns with SCID, sometimes referred to as “Bubble Boy Disease,” lack the white blood cells that fight infections caused by viruses, bacteria, and fungi. Early diagnosis, made possible by newborn screening, can reduce hospitalizations and improve health outcomes. South Carolina will join 19 other states that currently test for SCID.
DHEC is working with a number of partners and advocates, including children’s hospitals, the March of Dimes, and the South Carolina Hospital Association (SCHA) to incorporate SCID testing.
DHEC Director Catherine Templeton underscored the importance of the program, “We’ve worked hard over the last year to take a fresh look at a lot of different programs – but few are as important as Newborn Screening. Improvements like the new SCID test will put physicians and parents in the best possible position to make decisions about newborn health.”
Today, the agency also announced plans to provide regular reports to hospitals tracking the timeliness of samples shipped to DHEC. This comes as public health laboratories across the country are reviewing their programs to safeguard against hospital delays. DHEC will add laboratory staff in an effort to expand lab hours and physician notifications to further improve processing and reporting of test results. The agency also plans to acquire a new data management system that will streamline the testing process and enhance feedback for hospitals.
As part of this effort, DHEC is also partnering with the South Carolina Hospital Association to get information into the hands of physicians faster. SCHA President Thornton Kirby said, “DHEC provides a valuable service to parents and physicians in caring for children in the first days of life. As a partner in Newborn Screening, we support the addition of the SCID test and offer our full support for DHEC’s efforts to arm physicians with these important test results.”
Dr. Maria Streck, pediatric immunologist at MUSC, applauded the decision, “The addition of SCID to the Newborn Screening Panel is a very important step in ensuring good health for all children in South Carolina. Early detection is imperative and screening for SCID will guarantee that children who have the disease can receive appropriate medical care prior to developing any manifestations. Through newborn screening and early detection, we can achieve a very favorable outcome for a disease that previously took the lives of many children.”
State law requires physicians to provide a blood sample from every newborn. The sample, taken from the newborn’s heel within 24-48 hours of birth, is run through a series of tests and interpreted by DHEC laboratory professionals. Abnormal results are reported immediately to physicians by DHEC.
DHEC currently screens for 28 metabolic conditions that are recommended by the March of Dimes and the American College of Medical Genetics, in addition to 24 secondary metabolic conditions that can cause severe problems if not found very early in life. DHEC began testing in 1965, before a 1976 law made newborn screening mandatory in South Carolina.
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