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Test Developed in Wisconsin Can Help Save Babies' Lives Worldwide
MADISON, Wis. – In 2008 Wisconsin became the first state to screen all newborn babies for Severe Combined Immune Deficiency (SCID). On January 21, 2010, a federal advisory committee recommended that SCID be added to the uniform newborn screening panel, which serves as a guide for what disorders states should include as part of their newborn screening testing programs. Babies born with SCID, sometimes known as "Bubble Boy Disease," have a defect in both T-cell and B-cell production. The disorder is severe and usually fatal without early diagnosis and treatment. Until recently there was no cure for SCID; however, recent advances in bone marrow transplantation have proven very effective, and the success rate could reach up to 95% when transplants are done in the first 3 months of life. Development of the method to test for SCID in high-volume newborn screening laboratories was the result of a funding and scientific collaboration between the Wisconsin State Laboratory of Hygiene (WSLH) at the University of Wisconsin-Madison, which performs all newborn screening testing in the state, the Children's Hospital of Wisconsin (CHW) in Milwaukee, and the Jeffrey Modell Foundation, which focuses on prevention of primary immunodeficiency diseases. Evaluation of the first years of screening in Wisconsin has shown that babies with other T-cell lymphocyte deficiencies can also be identified using the SCID test. The U.S. Department of Health and Human Services Secretary's Advisory Committee on Heritable Disorders and Genetic Diseases in Newborns and Children included these as part of its SCID recommendation. The WSLH is currently in the second year of a three-year grant from the Centers for Disease Control and Prevention to further develop screening programs for SCID in Wisconsin and to help other states bring this important testing on-line. Massachusetts has already added SCID to their state newborn screening panel. Other states and countries also have expressed an interest. With the addition of SCID, the federally-recommended uniform newborn screening panel went from 29 disorders to 30. Wisconsin screens the more than 70,000 babies born annually in our state for 48 disorders that if left untreated can lead to slow growth, developmental delays, blindness and even death. Recent news articles about newborn screening and SCID testing in Wisconsin: Federal Advisory Committee Recommends SCID be Added to Uniform Newborn Screening Panel (Appleton Post-Crescent, 1/23/10) Wisconsin Ahead of the Curve on Screening Babies for Genetic Diseases (Appleton Post-Crescent, 1/21/10) State is First to Test Newborns for T-cell Deficiency Diseases (Milwaukee Journal-Sentinel, 12/11/09) Statewide Newborn Screening for Severe T-Cell Lymphopenia (JAMA, 12/9/09)
Written By: Jan Klawitter, WSLH Public Affairs Manager
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