National Newborn Screening and Genetics Resource Center

Details

Capability: Capabilities

Subcapability: Biomonitoring

Project Timeline: 2/1/2012-5/31/2012

Sequoia Foundation completed this study to characterize missed cases of cystic fibrosis. To complete this project, data was collected and analyzed from pooled national newborn screening programs (NBS). Each state’s data was consolidated and then appended into a larger set for cleaning and analysis. Immunoreactive trysinogen (IRT) levels which, when elevated are highly predictive of cystic fibrosis, were converted to percentile values to enable comparison across different programs and the frequency of false negative cases were charted.

Individual level data from false negatives were then summarized for all states, and distributions were compared. Using the individual level data, Sequoia Foundation was able to identify characteristics that are statistically correlated  with one another to aid in the interpretation of the results.