Systematic data collection to inform policy decisions: Integration of the region 4 stork (R4S) collaborative newborn screening database to improve ms/ms newborn screening in washington state

Abstract

In the past 50 years, newborn screening (NBS) has grown significantly in the breadth of screening programs and the number of conditions tested for each baby. The adaptation of tandem mass spectrometry (MS/MS) technology to detect inherited metabolic diseases is arguably one of the most impactful advancements in NBS testing. The addition of new conditions to the screening panel and the rarity of these conditions pose challenges for NBS program development, improvement, and evaluation. The Region 4 Stork (R4S) project is an international collaborative NBS database and a resource for programs across the world to overcome these challenges. By pooling true-positive case and laboratory testing data, the R4S database provides insight into complex MS/MS profiles for these rare conditions. The Washington State NBS Program is integrating aspects of the R4S web application and utilizing R4S resources to examine current protocols, identify improvements, implement changes, and review outcomes. Washington uses R4S resources to choose informative analytes and evaluate cutoffs. The program also examines the performance of R4S tools that are designed to aid in evaluating a baby’s MS/MS screening results. This article documents these efforts in utilizing a subset of the R4S tools to improve their program, demonstrating the flexibility of the application. Other NBS programs can use the knowledge Washington has gained to strengthen their ability to correctly identify babies with metabolic disorders and mitigate the impact of screening on babies and their families.