Description
A key component of the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Hunter Kelly Newborn Screening Research Program is the Newborn Screening Translational Research Network (NBSTRN). Since its beginning in 2008, the NBSTRN has been led by the American College of Medical Genetics and Genomics (ACMG). In the past fourteen years, NBSTRN data tools, resources, and expertise has been used by researchers to advance understanding of genetic disease and discover novel technologies to screen and diagnose disease. This has led to the population-based screening of the 3.8 million babies born each year in the United States. Collectively, the NBSTRN team has guided efforts by working with an individual research team conducting studies that have enrolled over 1 million newborns in pilots, clinical trials, or natural history studies.
With the emerging use of genomics as a 2nd tier or confirmatory testing strategy in newborn screening and advancements in antisense oligonucleotide (ASO)-mediated exon skipping compounds, the potential to advance precision medicine using newborn screening has never been more promising.
This workshop will provide in-depth training on the design and implementation of research studies using the principles and practices of population-based newborn screening. Four use cases will enable participants to carry out data-driven discovery using three NBSTRN developed data tools. The use cases will include a wide array of data elements and components to allow customization of the experience for each participant. The use cases will include both hypothesis-driven and data-driven scenarios, and formatting of data for submission to 3rd party databases like dbGaP will be included. The data tools include the Longitudinal Pediatric Data Resource (LPDR), housed within a FISMA Moderate cloud environment, and designed to share new findings and foster secondary use of accumulated data. The two other data tools are the NBS- Condition Resource (NBS-CR) which helps researchers choose diseases, genes, and variants, and the NBS-Virtual Repository of States, Subjects & Samples (NBS-VR) with an interactive map tool to navigate state NBS programs and locate subjects and samples to execute the use cases.
