Funded Projects

Improving the Newborn Screening System in the Genomic Era

Grantee: Case Western Reserve University
Principal Investigator: Aaron Goldenberg
Project Number: R40MC26805
Project Date: 04/01/2014

Final Report

Improving the Newborn Screening System in the Genomic Era Final Report (PDF)

Age group(s)

• Perinatal/Infancy (0-12 months)

Abstract

Background: Newborn screening (NBS) is one of the most successful public health systems in the U.S. By identifying children with rare inherited diseases shortly after birth and starting them on treatment, the NBS system has saved the lives of thousands of children. Newborn screening programs represent a vital health system that relies on a state-coordinated infrastructure to collect blood samples from newborns, screen for conditions, report findings to parents and providers, and provide support for follow-up services. The expected addition of next generation genomic sequencing (NGGS) technology (i.e., determining the exact genetic code for an individual's gene, a portion of a individual's genetic code, or an individual's entire genetic code) to NBS programs may create programmatic and policy challenges that could threaten the programs' ability to serve newborns and their families. Historically, responses to the challenges raised by the NBS system's adoption of new testing technology have been reactive rather than proactive. Taking this approach with the integration of NGGS may have negative consequences on the infrastructure needed to run newborn screening programs, and ultimately harm this life-saving public health service system. Goals of this study: The goal of the proposed project is to proactively identify and address the programmatic and policy challenges to state NBS programs created by the integration of NGGS technology into NBS. This project will achieve this goal by: 1) conducting focus groups with NBS officials to identify programmatic and policy challenges of integrating NGGS into NBS programs; 2) utilizing data generated from the focus groups to develop, test, and disseminate toolkits that can be used by state NBS programs to address these challenges. How we will conduct the study: Seven Regional Genetics Collaboratives (RCs) across the U.S. are responsible for strengthening and supporting the functioning of state NBS programs. We will partner with the RCs to conduct focus groups with NBS officials who attend the annual RC conferences. This recruitment method will allow us to ensure coverage of NBS programs throughout the U.S. We will integrate our findings to develop, test, and disseminate toolkits to be used by NBS programs to address the programmatic and policy challenges that they have identified. What we hope to achieve: We will identify the programmatic and policy challenges NBS programs face with the addition of NGGS into this public health system. We will use this information to develop toolkits to address the programmatic and policy needs of NBS programs. By addressing these needs, we will ultimately ensure that NGGS can be utilized within NBS programs in ways that protect and strengthen the programs' existing infrastructure, while also preserving the benefits of this important public health service for newborns and their families.