Genome-based newborn screening for severe, actionable, childhood genetic diseases in a NICU pilot study
Includes a Live Web Event on 03/12/2025 at 12:00 PM (EDT)
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Dr. Rebecca Reimers will discuss genome-based newborn screening for severe, actionable, childhood genetic diseases in a NICU pilot study.
Overview of Presentation:
- Review ongoing work in genome-based newborn sequencing studies and the ongoing BeginNGS trial
- Describe performance in NICU populations for a 412 disorder panel and for diagnostic genome sequencing in NICU patients not expected to have a genetic disorder
- Review utilization of federated data to improve the BeginNGS test and ongoing work to enhance test utility and performance
- Describe collaboration between genomic researchers and the State of California to provide high quality screening for critically ill newborns
Rebecca Reimers, PhD, MPH
Principal Investigator
Rady Children's Institute for Genomic Medicine
Dr. Rebecca Reimers is clinically trained in maternal-fetal medicine and clinical genetics. She currently practices pediatric genetics, perinatology, and leads two clinical trials; one in genome sequencing for newborn screening (BeginNGS) and the other in genome sequencing for prenatally diagnosed congenital heart disease. Her research is through Rady Children's Institute for Genomic Medicine and she is an assistant professor at the University of California, San Diego.
Dr. Reimers' long-term goal as a researcher is to improve equitable counseling and care for families with pediatric genetic disorders or fetal anomalies through rapid genetic diagnosis
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