Newborn screening for Severe Combined Immune Deficiency (SCID)

Background SCID is a primary immunodeficiency disease where affected infants lack T lymphocytes. Babies with SCID appear healthy at birth, but without early treatment, these infants cannot survive. Babies with SCID who receive a bone marrow transplant in the first 3.5 months of life have a survival rate of about 94 percent. The survival rate drops to less than 70 percent for infants who are transplanted later. Earlier treatment offers children the chance at living normal and healthy lives with fewer incidence of future serious healthcare needs. In 2010, HHS announced that SCID would be added to the core panel for newborn screening in the USA. Methods The Immune Deficiency Foundation (IDF), the national patient organization advocating on behalf of patients with primary immunodeficiency diseases, initiated a campaign to have SCID screening implemented in all 50 states. Results Five states and Puerto Rico currently screen for SCID. Nine states have decided to move forward with screening through their Newborn Screening Advisory Committees, though screening has not begun. As a result, the prevalence of SCID, once believed to be 1:100,000 births is now thought by some to be as frequent as 1:40,000. Additionally, in order to confirm diagnosis and treatment modalities, states have to develop new protocols for follow-up. Conclusions As state SCID newborn screening has already increased understanding of SCID's prevalence, positively impacted health care utilization, and produced healthier patient outcomes, states must further develop the infrastructure and cost effectiveness of follow-up diagnostics and treatment.