Principal Investigator: Michele Caggana, ScD
Institution: New York State, Department of Health-Wadsworth Center
Project Start Date: August 2010
Project End Date: June 2011
Project Uses: CLPR, VRDBS, LDPR
“National SCID Pilot Study”
The “National SCID Pilot Study,” funded as an extension of the “Novel Technologies” contract awarded to New York, had the goal of providing comprehensive newborn screening for severe combined immunodeficiency for as many newborns as possible. California, Louisiana (Wisconsin Newborn Screening Program), Puerto Rico (New England Newborn Screening Program), and New York participated, based on population demographics and/or size. Deliverables of this contract included establishment of the T-cell receptor excision circle assay into routine, high-volume newborn screening protocols, creation of laboratory and clinical follow-up algorithms, mechanisms for reporting, and protocols for treatment. The collaborative established a portal in the Region 4 Stork Collaborative website for deposition of SCID cases. Lastly, the group created a guidance table that collates assay variables, equipment, and other pertinent information for other Programs. The Newborn Screening Translational Research Network provided assistance with meetings, phone calls, and organization of all interested parties. In total 654,053 babies were screened, and 307 were referred. A total of 12 babies were confirmed with SCID (1/54,504), 3 babies were confirmed with a SCID variant, and 38 babies were confirmed with an immunodeficiency related to another condition. No babies were diagnosed with SCID who were not detected via screening. The National SCID Pilot Study assessed screening technologies for SCID and established confirmatory tests and definitions for presumed positive cases. A new module of the laboratory performance tool was developed to support the analytical and clinical validation of SCID screening. The NBSTRN SCID screening laboratory performance tool was designed to capture data related to the analytical and clinical validation of the TREC assay for a pilot of SCID newborn screening, and it has proven useful as SCID joins the panel of screened conditions in many states. This is a useful model for future investigations of new technologies and conditions.
List of Appendices:
11. CA Educational Materials for Families and Providers:
- Why Does My Baby Need Another Newborn Screening Test?
- Why Does My Baby Need Another Newborn Screening Test? - Spanish
- Why Does My Baby Need More Testing for Severe Combined Immunodeficiency (SCID)?
- Why Does My Baby Need More Testing for Severe Combined Immunodeficiency (SCID)? - Spanish