The Center for Biomedical Informatics (CBMi) at the Children’s Hospital of Philadelphia (CHOP) and the NBSTRN have partnered to present a solution for collecting, managing, and delivering long-term care data for individuals identified with conditions through newborn screening. Effective capture of long-term clinical data for these individuals represents an exciting opportunity to establish a longitudinal data collective, which would produce a transformative resource for biomedical research. Delivery of a mechanism to collect, manage, and disseminate long-term clinical data in the context of newborn screening information and biomaterials is a key outcome for the remaining 3 years of the initial NBSTRN project period.

This project aims to establish a network of centralized and institutionally-enabled infrastructure to support the capture and managed storage of longitudinal clinical data from individuals following newborn screening. Data governance, security, and workflow processes will be developed and implemented to ensure that accrued data is standardized, secure, and of the highest possible quality for conducting research. These data will be made available to the research community using procedures that comply with established legislative and data practice guidelines. We plan to construct the NBSTRN data network as a highly scalable and extensible project that is compatible with other emerging national networks and data grids. We also plan to develop and contribute tools and procedures to the open-source community without restrictions to the greatest extent achievable.

Expected outcomes

• An active data governance committee that evaluates and establishes data best practices, data workflows, data standards, and compliance and security policies for long-term follow-up (LTFU) data capture and use
• Additional data governance committees for each target disease that contribute modifications to data best practices, data workflows, data standards, and compliance and security policies for LTFU data capture and use for enabling adaptation to specific disease areas
• Ability of consortium members and healthcare professionals to record and contribute LTFU data for a substantial number of disease areas in a secure, compliant, and uniform manner, including the ability to record information specific to these individual diseases
• Ability for authorized pilot disease investigators to browse, query, and download LTFU data from the central repository via a facile and robust web application
• Ability for any qualified investigator to record and contribute core LTFU data for any individual undergoing newborn screening in a secure, compliant, and uniform manner
• Support for any authorized investigators to browse, query, and download LTFU data from the central repository via a facile and robust web application
• A supported, web-enabled version of the centralized data resource that allows individual institutions to install and customize the resource for local extensibility and personalized workflows, but which still enables efficient electronic transfer of captured data to the central resource
• Mobile applications that support authorized investigators to upload, browse, query, and download LTFU data from disease-specific and a central data repository via a facile and robust mobile device interface
• An awareness campaign in the research community to promote usage of the LTFU database across a national spectrum, with additional focus upon the research communities for targeted disease areas
• Solutions designed to incentivize potential users to contribute data, and to overcome policy, adoption, and use barriers that may preclude such contributions
• A plan for long-term growth of the resource beyond the initial project period
• A documented code archive encompassing all project deliverables that is enabled for unrestricted use in the open-source community

For more information about the LTFU Data Collection Project please contact [email protected].