The Importance of Long-Term Follow-Up in Newborn Screening Research
The ability to capture clinical information early in the clinical course of a disease, even before clinical symptoms appear, advances disease understanding, helps to establish the efficacy of new treatments and management approaches, informs the community at large about the value of early identification and treatment through newborn screening, and identifies areas for improvement in disease management throughout the lifespan.
Rare Disease Research
The majority of the conditions that are part of, or candidates for, newborn screening in the United States are rare or very rare. This necessitates the sharing of data from basic research designed to advance understanding of the disease process, to translational research to develop technologies to screen and therapies to treat, to public health implementation of a comprehensive newborn screening program to identify newborns at risk.
Advances in information technology have enabled the creation of tools to facilitate this sharing, aggregation and analysis of data. The use of standardized vocabularies, interactive computer systems, and robust security measures are key components that enable the creation of a shared infrastructure available to researchers, public health team members, and clinicians.
NBSTRN Tools Facilitate Long-Term Follow-Up
We have incorporated all of these principles in the development of a suite of secure, web-based information technology tools called the Longitudinal Pediatric Data Resource (LPDR). The suite of tools enables data collection, aggregation, analysis, sharing, and visualization in a FISMA Moderate environment monitored by NICHD. The FISMA Moderate environment supports the collection of personally identifiable data central to longitudinal studies and the use of dates to mark events in an individual’s clinical course (e.g. date of a bone scan).
The LPDR houses a Research Electronic Data Capture (REDCap™) module for data collection using common data elements (CDEs) developed by a national panel of clinical experts and newborn screening teams; a Data Almanac application that provides the ability to search available CDEs and create custom data dictionaries and electronic case report forms; a data discovery and query application, NBsmart, that enables visualization and interaction with data sets across different studies; and a module to process, store, access, share and analyze genomic data called VIVA.
Collaboration with Other Researchers
Over 100 researchers and newborn screening program team members have registered to use the LPDR, and the LPDR has been used in over thirty basic, translational, public health and clinical research projects. The LPDR is designed to facilitate the dissemination of new findings and to foster the secondary use of the original data sets. Researchers who use the LPDR for data collection are able to share their data with other investigators to aggregate data on the rare conditions included in newborn screening.
The LPDR Data Contributor Worfklow provides an example of how researchers and team members can store and use their own phenotype and genomic data as well as work with other groups to collaborate, generate sandbox environments, and disseminate projects to external groups.