Enhancing Data-Driven Disease Detection in Newborns

ED3N Project

At a glance

The Enhancing Data-driven Disease Detection in Newborns (ED3N) pilot program aims to provide a national data platform that will improve the quality and interpretation of newborn screening results.

Decorative: Puzzle piece labeled "evidence"

Overview

Newborn screening (NBS) professionals in the U.S. face greater data analytic challenges because of the continued expansion in the number of diseases being screened for by NBS programs. Other challenges include increased difficulty in disease detection and matching disease markers with risk and severity.

The addition of late-onset diseases to newborn screening panels requires a process to routinely capture clinical data and outcomes.

The Enhancing Data-driven Disease Detection in Newborns (ED3N) pilot program will assess the functionality of a CDC data platform in the Division of Laboratory Sciences Newborn Screening and Molecular Biology Brance (NSMBB). The project aims to help improve disease detection in newborns through dried blood spot screening.

Through collaboration between U.S. newborn screening programs and CDC's Newborn Screening and Molecular Biology Branch, the ED3N pilot project will help programs evaluate disease risks. The NSMBB project will pilot two modules within ED3N.

Biochemical analysis

Biochemical testing of analyte markers in dried blood spots is the traditional core of the newborn screening process. It faces ongoing challenges as the testing panel and complexity of diseases continue to grow.

View Larger
Graphic Image showing EDEN's Biochemical analysis solutions to multiple challenges: 1) Identified Challenge Variability in cut-off determination Challenges in harmonizing data1) Proposed Solution Apply sophisticated data harmonization techniques to aggregated data to allow comparability between programs 2) Identified Challenge Rare diseases with few cases within each program, limiting ability to develop robust detection algorithms2) Proposed Solution Allow for secure data sharing, aggregations, analysis, and visualization to improve accurate risk assessment for rare diseases 3) Identified Challenge High number of false positive NBS results while minimizing false negatives3) Proposed Solution Apply machine learning models to improve algorithm performance and enhance ability to detect disease
ED3N Biochemical Analysis Challenges and Solutions

Molecular analysis

Molecular testing has traditionally been used in newborn screening as a second or third-tier test after out-of-range biochemical testing results. The purpose of molecular testing in newborn screening is often to improve sensitivity and specificity and allow for the differentiation of disease onset and/or severity.

View Larger
Graphic Image showing EDEN's molecular analysis solutions to multiple challenges: 1) Identification and curation of rare variants without aggregated newborn screening data to inform interpretations 1) Proposed solutions Guided NBS-specific variant interpretation tool that documents interpretative decisions and alerts users to changes in interpretations 2) Identified Challenge Lack of access to and maintenance of an automated collaborative database of interpreted variants 2) Proposed solution A single collaborative platform to examine relevant variant evidence and compare with other state programs 3) Identified Challenge Inability to link molecular, biochemical, and clinical data from NBS programs across the Nation 3) Proposed solution Provide secure bioinformatics pipeline to support querying of variant data in conjunction with other NBS data types
ED3N Molecular Analysis Challenges and Solutions
Print
Content Source:
National Center for Environmental Health | Division of Laboratory Sciences