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Screening for SCID

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Georgia parents may soon get the option to have their newborns screened for SCID, an inherited disorder commonly known as "boy-in-the-bubble disease," marked by severe, chronic infections. The state's Newborn Screening Advisory Committee voted unanimously to endorse the screening for Georgia. The next step is for Georgia's Department of Public Health (DPH) to add the screening to the battery of tests it recommends hospitals give to all newborns. The SCID screening would be the first test added since cystic fibrosis screening was added 10 years ago.

The committee recommended adding the SCID screening after the state's only pediatric immunologist, Lisa Kobrynski of Emory, presented information to the panel that although SCID was thought to be rare, newborn screening in nine other states has shown it to be relatively common: one in 40,000. Given nearly 140,000 births per year in Georgia, Kobrynski says that two or three babies are likely born with SCID in the state each year and that many cases of the disorder may have been missed. Deaths may be wrongly attributed to sudden infant death syndrome or other causes. The answer to this pressing problem, Kobrynski says, is to institute a newborn screening test for SCID, so that SCID can be diagnosed and babies treated in time.

Children with SCID cannot make T cells, a key part of the immune system's defense against hostile bacteria and viruses. If children with the disorder receive bone marrow or peripheral blood cell transplants in the first six months of life, their immune systems are "rebooted," enabling them to make their own T cells and protect themselves against infection. After transplant, most children can live normal lives without additional interventions. However, the timing of transplantation is crucial. If the transplant is done after the first six months of life, outcomes are not nearly as good.

Kobrynski, a Marcus Professor at Emory and director of the Jeffrey Modell Foundation Center for Excellence, is helping federal and private agencies develop clinical guidelines for the diagnosis and treatment of SCID. If the Georgia DPH adds the SCID screening test, Kobrynski will partner with them to provide follow-up care to infants who test positive for the disorder.—Yael D Sherman

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Georgia Newborn Screening Program

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