Severe Combined Immunodeficiency Disorder (SCID) is a group of genetic disorders characterized by profound defects in the immune system. On May 21, 2010, the Secretary of the U.S. Department of Health and Human Services approved the addition of SCID to the list of screening tests that all children are recommended to get at birth. In preparation for the possible future addition of SCID to the Texas Newborn Screening (NBS) Panel, the state laboratory is currently conducting a pilot study for SCID newborn screening.
In collaboration with the New England Newborn Screening Program (NENSP), and with grant support from the federal Centers for Disease Control and Prevention (CDC), the Texas NBS Program SCID pilot study goals are to evaluate how SCID testing could be incorporated into the Texas NBS Program. The test will be performed using specimens collected for routine newborn screening in Texas, with the parents having provided advance written consent for participation in the study. While this is a limited pilot study and is not designed to be state-wide, if a parent outside of the study area wishes their child to participate in the study, DSHS will attempt to accommodate that participation (taking into account the numbers of interested parents, timing in relation to the study, etc.). Such parents would need to contact the DSHS Newborn Screening Laboratory and completely fill out and submit the consent form to DSHS. Please note that if you have already requested that DSHS destroy your child?s blood spot specimen and the blood spot has been destroyed, you would not be eligible to request participation in this pilot study.
In this pilot study, if a positive result is indicated during the testing, the infant?s primary care provider and a pediatric immunologist will be notified with a recommendation for a referral to a local immunologist to obtain a diagnostic test and evaluation. Because this is a study to determine how SCID testing would be made a part of the routine Texas NBS process, it is important to note that a positive result indicated during the study will not definitely mean that your child has SCID. Instead, it means that our preliminary study (where methodologies for testing, etc. are being worked out) indicates that SCID may be present. The further confirmatory testing that you would have conducted, after your physician receives the notice from us, will provide you with the final answer as to whether your child has SCID.
This pilot study provides important information that will complement the data from studies conducted by the states of Massachusetts and Wisconsin (as coordinated by CDC). The overall national study results will help determine the optimal SCID testing methodology for use when funding is available to add it to the Texas newborn screening panel. Ongoing research is critical to the future development of newborn screening services.
Click here for more information and FAQ about SCID. Parents with questions regarding enrolling their children in the study may contact the DSHS Newborn Screening Laboratory for more information.