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.

Competing interests: None declared

Appendices

Synopsis

Newborn screening programs can integrate tools from the Region 4 Stork (R4S) collaborative database to evaluate current protocols, identify improvements, and review outcomes of implemented changes. The power of a large pool of data for rare conditions makes R4S an excellent resource for newborn screening programs.

Compliance with Ethics Guidelines

Conflict of Interest

Ashleigh Fleischman, John D. Thompson, and Mike Glass declare that they have no conflicts of interest.

Animal Rights and Human Subjects

This article does not contain any studies with human or animal subjects performed by any of the authors.

Details of the Contributions of Individual Authors

Ashleigh Fleischman attended the Region 4 Stork MS/MS training and is assigned to follow-up for abnormal MS/MS conditions. She performed the review of the MS/MS panel, identified new markers to add to the panel, executed the cutoff review, proposed cutoff changes, conducted validation of the Post-Analytical tools including running specimens through the R4S tools, and recording results. Ashleigh was responsible for generating and reviewing the data and is the primary author of this article.

John D. Thompson is the supervisor for the follow-up group in Washington State’s Newborn Screening program. He attended the Region 4 Stork MS/MS training, collaborated and approved changes in the Washington MS/MS panel and cutoff algorithms, and oversaw the data collection and validation of the Post-Analytical tools. He served as an advisor for this article including planning, editing, and content review.

Mike Glass is the director of Washington’s newborn screening program. He reviewed and approved all changes made in follow-up or lab protocols. He served as an advisor for this article including, planning, editing, and content review.