The Longitudinal Pediatric Data Resource: Facilitating Longitudinal Collection of Health Information to Inform Clinical Care and Guide Newborn Screening Efforts

Amy Brower,Michael Hartnett,Jennifer Taylor,Kee Chan

doi:10.3390/ijns7030037

Amy Brower, Michael Hartnett + Show 2 more

Open Access

https://doi.org/10.3390/ijns7030037

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Abstract

The goal of newborn screening is to improve health outcomes by identifying and treating affected newborns. This manuscript provides an overview of a data tool to facilitate the longitudinal collection of health information on newborns diagnosed with a condition through NBS. The Newborn Screening Translational Research Network (NBSTRN) developed the Longitudinal Pediatric Data Resource (LPDR) to capture, store, analyze, visualize, and share genomic and phenotypic data over the lifespan of NBS identified newborns to facilitate understanding of genetic disease and to assess the impact of early identification and treatment. NBSTRN developed a consensus-based process using clinical care experts to create, maintain, and evolve question and answer sets organized into common data elements (CDEs). The LPDR contains 24,172 core and disease specific CDEs for 118 rare genetic diseases, and the CDEs are being made available through the NIH CDE Repository. The number of CDEs for each condition average of 2200 with a range from 69 to 7944. The LPDR is used by state NBS programs, clinical researchers, and community-based organizations. Case level, de-identified data sets are available for secondary research and data mining. The development of the LPDR for longitudinal data gathering, sharing, and analysis supports research and facilitates the translation of discoveries into clinical practice.

Highlights

Each of the approximately 4 million babies born in the United States each year receives neonatal screening for over thirty-six rare genetic diseases [1]
The neonatal screening of newborns each year leads to the diagnosis of infants with a genetic condition that requires referral to clinical care and, in most cases, lifelong management
Setsof 24,172 core and disease specific common data elements (CDEs) have been developed for use in longitudinal health information data collection efforts

Summary

Introduction

Each of the approximately 4 million babies born in the United States each year receives neonatal screening for over thirty-six rare genetic diseases [1]. Screening and short-term follow-up occur within the state-based public health system while diagnosing, treating, and managing sick newborns occurs in pediatric care settings. This series of hand-offs from prenatal care to public health to clinical care creates a unique opportunity to capture crucial longitudinal health information for infants diagnosed through. Longitudinal collected on children diagnosed through population-based screening offers significant data collected on children diagnosed through population-based screeningand offers signifipotential to advance scientific and clinical understanding of NBS conditions document cant potential to advance scientific and clinical understanding of conditions and docthe life-saving benefit of NBS. NBS.and dissemination of health information on newborns diagnosed with a condition through NBS

Newborn

Longitudinal Pediatric Data Resource

Results

LPDR: Phenotypic and Genomic Data

Discussion