CALIFORNIA-State to Implement Newborn Screening for SCID!

Welcome to California

California officially begins a Development Program for SCID Newborn Screening today, August 16, 2010! The program will screen all infants born in the state, roughly 520,000 babies per year, for low or absent T lymphocytes. It will continue until approximately 1 million babies have been tested. Any positive results that are found will be followed by a diagnostic blood test, with referral to a pediatric immunologist if an abnormal lymphocyte profile is confirmed.

 The test to be used to screen newborns in California, like those already implemented in Wisconsin and Massachusetts, will measure the number of T cell receptor excision circles (TRECs), which are stable circular DNA molecules generated during T cell development.  Low or absent of TRECs indicate the possibility of a primary immune defect that prevents a newborn from generating T lymphocytes.  TRECs below the cutoff value are considered as positive for a T-cell deficiency disease, including severe combined immunodeficiency, or SCID.

 California’s SCID Newborn Screening Development Program will have two phases. The first will use the PerkinElmer TREC test to screen for SCID.  This test’s accuracy has been verified using samples from California and has a 24 hour turnaround time. The second phase of the project will compare this method with a more automated one, but both will measure TRECs. The first phase of the program is expected to last between 7 and 8 months, and the second phase is planned for the spring of 2011 and will last an additional 8 to 10 months.

 The decision in California to move forward with newborn screening for SCID is momentous, as it is the first state to begin the screening following the decision of Secretary of HHS Kathleen Sebelius to add SCID to the newborn screening uniform panel of genetic disorders.  Other states are also considering adding SCID screening in the near future.  It can be assumed that when California and additional states begin publishing results from their pilot programs, more states will realize the need to implement this screening population-wide.

 Have you already been working to get SCID on your own state’s newborn screening panel?  Do you have a personal experience with SCID?  Please COMMENT below and contact IDF to find out how to join in the efforts! 

Also, check out the SCID Newborn Screening Campaign website to learn more about the background and necessity of SCID newborn screening.