Severe Combined Immunodeficiency Added to Newborn Screening Panel

Laurie Barclay, MD

January 28, 2010

January 28, 2010 — A unanimous vote on January 21 by the Secretary's Advisory Committee for Heritable Disorders in Newborns and Children (ACHDNC) resulted in the committee's recommendation to add severe combined immunodeficiency (SCID) to the uniform newborn screening panel. This addition to the mandatory newborn screening panel performed by state public health programs is the first since September 2005.

"[The Advisory Committee] has carefully reviewed the detailed, updated evidence review for SCID and related T-lymphocyte deficiencies and found the condition(s) ready to be added to the uniform and secondary panel," ACHDNC Chairman R. Rodney Howell, MD, said in a news release. "The Advisory Committee, however, understands that there will be additional work from the [National Institutes of Health], [the Health Resources and Services Administration,] and the [Centers for Disease Control and Prevention] to be reported back to the Committee as this newborn screening proceeds."

SCID, which has an estimated incidence of 1 in 100,000 to 1 in 40,000 newborns, is a group of disorders characterized by the absence of an immune system, resulting in recurrent infections and early childhood mortality unless treated in the first months of life.

Cost-effective methods for universal screening for SCID were developed in Wisconsin and Massachusetts, and several other states have begun training laboratory personnel to start SCID screening.

"This recommendation by the [Advisory] Committee is significant for both newborn screening and for the evidence-based process for decision making," said Sharon Terry, MA, president and chief executive officer of Genetic Alliance and ACHDNC liaison. "The recommendation includes surveillance, education and quality control, to be contributed by the National Institutes of Health, Health Resources and Services Administration and Centers for Disease Control and Prevention, and thereby supports the development of a systems approach in newborn screening."

There is currently a formal process for individuals or organizations to nominate a heritable disorder to be considered by the ACHDNC for inclusion in the recommended uniform screening panel. Of 6 conditions (Fabry disease, Krabbe disease, Niemann-Pick disease, Pompe disease, SCID, and spinal muscular atrophy) brought to the advisory committee since it adopted a list of 29 recommended conditions in September 2005, only SCID has been recommended for addition to the uniform screening panel.

"[The] unanimous vote to add SCID to the National Newborn Screening Core Panel was a milestone victory," said Vicki Modell, cofounder of the Jeffery Modell Foundation. "We thank the Committee for their positive decision on behalf of all the babies with SCID that we lost, the babies today who have hope, and for all the future babies yet to be born, who will have a really good chance at life."


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