"We wanted to determine whether testing for SCID should be added to the universal screening panel for genetic disorders," said Dr. Sean McGhee, clinical instructor of pediatric immunology at Mattel Children's Hospital at UCLA. "Treatment is now advanced enough that 95 percent of children can be cured, but newborns must be detected in the first month, before the onset of severe infections."
In the first study -- detailed in the November edition of the Journal of Pediatrics -- UCLA researchers concluded that SCID screening could result in a large benefit to infants, making screening relatively cost-effective in spite of the low incidence of the disease. However, an adequate test would be critical to cost-effectiveness.
The analysis is the first of its kind to examine formally cost and benefits of SCID newborn screening.
To conduct the study, researchers used information about the costs of diagnosing and treating SCID and the benefits of early diagnosis, and performed a cost-benefit analysis comparing universal screening with screening only those with a family history of SCID.
Researchers determined that a SCID screening test that cost less than five dollars with a false-negative rate of 0.9 percent and a false-positive rate of 0.4 percent would be considered cost-effective by most currently accepted standards.
A nationwide screening program would cost an additional $23.9 million per year for screening costs, but would result in 760 years of life saved per year of screening.
In a related pilot study -- described in the December edition of Molecular Genetics and Metabolism -- McGhee and his colleagues looked at using a "two-tiered" strategy to imp
Contact: Amy Waddell
University of California - Los Angeles