Expert Commentary: Practical Issues in Newborn Screening for Severe Combined Immune Deficiency (SCID)

Excerpt

Kate Sullivan: We asked experts in the field to comment on some of the more pressing questions in the burgeoning field of newborn screening for severe combined immune deficiency (SCID). Their valuable perspectives are provided to guide the establishment of policies as additional states consider and implement newborn screening for SCID. Jennifer Puck has been a strong advocate for newborn screening and originated the concept of T cell receptor excision circle (TREC) screening using dried blood spots; the TREC assay has been performed on all newborns in California since August 2010, and Dr. Puck is the immunology consultant for the California Genetic Disease Lab; she has instituted a centralized follow-up model, with the screening program obtaining and sending follow-up tests throughout the state to a single immunology lab. Dr. Puck and her Southern California colleague, Dr. Joseph Church, interpret all flow cytometric results from a designated laboratory with a standardized analytic panel. Dr. Jack Routes was responsible for implementing the first state newborn screening program for SCID, which started in Wisconsin in January 2008. Wisconsin is a leader in the field of newborn screening. Dr. Alexandra (Lisa) Filipovich has developed Cincinnati Children's Hospital into one of the preeminent transplant centers. Novel protocols to limit toxicity and improve outcomes are central to the innovations at Cincinnati Children's Hospital. …