LPDR

LPDR aggregates longitudinal genomic and phenotypic data from newborn screening (NBS) to enable analysis of genetic conditions and longitudinal assessment across the lifespan.

Key Features:

• Comprehensive Data Collection: Captures extensive longitudinal genomic and phenotypic health information for newborns identified through NBS.
• Data Organization: Organizes data into consensus-based common data elements (CDEs) curated with clinical care experts.
• Extensive Database: Contains 24,172 core and disease-specific CDEs covering 118 rare genetic conditions, with a per-condition range of 69 to 7,944 CDEs and an average of approximately 2,200 CDEs per condition.
• Data Accessibility: Provides de-identified case-level datasets for secondary research and data mining.

Scientific Applications:

• Facilitating Research: Provides comprehensive longitudinal data to support genetic disease research and secondary analyses.
• Enhancing Clinical Practice: Enables evaluation of long-term impacts of early identification and treatment strategies from NBS to inform clinical care.
• Supporting Public Health Initiatives: Informs state NBS programs, clinical researchers, and community-based organizations to guide public health policies and screening practices.

Methodology:

Question-and-answer sets were created, maintained, and evolved into common data elements (CDEs) using a consensus-based approach with clinical care experts, and these CDEs are made accessible through the NIH Common Data Elements (CDE) Repository to support standardized data collection and interoperability.