Center for Biomedical Informatics

The Development of the Longitudinal Pediatric Data Resource to Support Translational Research in Newborn Screening
1Center

Contact Information: Email: loutrelj@email.chop.edu The Center for Biomedical Informatics at CHOP

Jennifer G. Loutrel1, Stacey Wrazien1, Nicole M. Ferraro1, Jeffrey W. Pennington1, Mark Porter1, Amy M. Brower2, Peter S. White1,3,4
for Biomedical Informatics, The Childrens Hospital of Philadelphia, Philadelphia, PA; 2Newborn Screening Translational Research Network (NBSTRN) Coordinating Center, American College of Medical Genetics and Genomics, Bethesda, MD; 3Division of Oncology, The Childrens Hospital of Philadelphia, Philadelphia, PA; 4Department of Pediatrics, University of Pennsylvania School of Medicine, Philadelphia, PA

BACKGROUND
Newborn Screening Newborn screening (NBS) is used nationwide for the early identification, diagnosis, and treatment of a variety of disorders in order to improve health outcomes for affected infants. Each year in the United States approximately 12,500 infants are found by NBS to have a condition that requires medical intervention. The Newborn Screening Translational Research Network The Newborn Screening Translational Research Network (NBSTRN) Coordinating Center was established in 2008 by the NICHD to facilitate the development of a set of tools and infrastructure to support research in NBS. Because the majority of NBS conditions are rare, translating new discoveries about NBS disorders into clinical practice requires the prospective collection and aggregation of health information across the continuum of clinical care and diverse geographic settings. The Longitudinal Pediatric Data Resource The Center for Biomedical Informatics (CBMi) at the Childrens Hospital of Philadelphia (CHOP) was tasked with creating a long-term follow-up informatics system, the Longitudinal Pediatric Data Resource (LPDR), to enable enhanced data collection, data management, case reporting, and data analysis across disorders and institutions. The LPDR consists of multiple disease-specific REDCap projects, disease-specific paper case report forms (CRFs), and the Data Almanac, an electronic metadata resource available at the point of data entry.

METHODS

Generate PDFs for paper data collection

Obtain standard definitions from disease workgroups and national organizations

Align existing disease datasets with national standards and grantee specific aims and protocols

Develop electronic CRFs in REDCap1

Provide electronic definitions for elements in REDCap at the point of data entry

Collect feedback from national committees and workgroups using an electronic survey

RESULTS
Newborn Screening Visit Demographics and History Parents Siblings Biochemical labs Other labs Pharmacotherapy NBS Hearing screen Consent Status change Growth Development Medica<on Treatment Status Par<cipa<on

Newborn Screen

Visit Lab Studies

Family History

Visit Findings

Visit Health History

Past Health History

Demographics

Neonatal Past tes<ng

Genotype Other

Socioeconomics

Procedures

Emergency Management

For more information about the Longitudinal Pediatric Data Resource please visit http://www.nbstrn.org.

Three prospective studies are utilizing the completed case report forms detailing 52 conditions, 88% (46/52) are part of routine NBS and 12% (6/52) are the focus of pilots to determine if NBS is warranted. In the future the LPDR will enable investigators to submit genomic information to analyze along with clinical data.

CBMi is funded by a subcontract to the American College of Medical Genetics and Genomics (HHSN27520080001C-2-0-1) 8/1/11-9/23/13. 1. Paul A. Harris et al. Research electronic data capture (REDCap)-a metadata-driven methodology and workflow process for providing translational research informatics support, J Biomed Inform. 2009 Apr42(2):377-81.

Nutri<on

Diagnosis

Ini<al Tes<ng

Consent

Visit Studies-Other

Visit Ancillary Care

Prenatal

Diagnos<c

Health status Sick visits

Care coordina<on Educa<on

Home monitoring Other tes<ng

Recommenda<ons Diets

Study Status