Systematic evidence review of newborn screening and treatment of severe combined immunodeficiency

• Published in: Pediatrics (Evanston) Vol. 125; no. 5; pp. e1226 - e1235
• Main Authors: Lipstein, Ellen A, Vorono, Sienna, Browning, Marsha F, Green, Nancy S, Kemper, Alex R, Knapp, Alixandra A, Prosser, Lisa A, Perrin, James M
• Format: Journal Article
• Language: English
• Published: United States American Academy of Pediatrics 01-05-2010
• Subjects: Babies; Bone Marrow Transplantation - economics; Child; Child, Preschool; Cost-Benefit Analysis; Evidence-Based Medicine - economics; Female; Health Policy - economics; Health Priorities - economics; Histocompatibility Testing; Humans; Infant; Infant, Newborn; Male; Medical disorders; Medical screening; Medical treatment; Neonatal Screening - economics; Pediatrics; Severe Combined Immunodeficiency - diagnosis; Severe Combined Immunodeficiency - economics; Severe Combined Immunodeficiency - mortality; Severe Combined Immunodeficiency - therapy; Survival Rate; Systematic review; Treatment Outcome; United States; United States
• ISSN: 0031-4005; 1098-4275
• DOI: 10.1542/peds.2009-1567

Severe combined immunodeficiency (SCID) is a group of disorders that leads to early childhood death as a result of severe infections. Recent research has addressed potential newborn screening for SCID.
To conduct a systematic review of the evidence for newborn screening for SCID, including test characteristics, treatment efficacy, and cost-effectiveness.
We searched Medline and the OVID In-Process & Other Non-Indexed Citations databases. We excluded articles if they were reviews, editorials or other opinion pieces, or case series of fewer than 4 patients or if they contained only adult subjects or nonhuman data. The remaining articles were systematically evaluated, and data were abstracted by 2 independent reviewers using standardized tools. For topics that lacked published evidence, we interviewed experts in the field.
The initial search resulted in 719 articles. Twenty-six met inclusion criteria. The results of several small studies suggested that screening for SCID is possible. Interviews revealed that 2 states have begun pilot screening programs. Evidence from large case series indicates that children receiving early stem-cell transplant for SCID have improved outcomes compared with children who were treated later. There is some inconclusive evidence regarding the need for donor-recipient matching and use of pretransplant chemotherapy. Few data on the cost-effectiveness of a SCID-screening program.
Evidence indicates the benefits of early treatment of SCID and the possibility of population-based newborn screening. Better information on optimal treatment and the costs of treatment and screening would benefit policy makers deciding among competing health care priorities.