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NSIGHT Public Webinar

Event Details

The Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT) program was started in September 2013 with support from the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genomic Research Institute (NHGRI), two components of the National Institutes of Health. The purpose of the program is to explore the implications, challenges and opportunities associated with the possible use of genomic sequence information during the newborn period.

The NSIGHT program consists of four sites: Brigham and Women's Hospital, Boston Children's Hospital, Children's Mercy Hospital, Kansas City, University of California San Francisco and University of North Carolina at Chapel Hill. Each site presented an update on their research during the webinar.

6001 Executive Boulevard
North Bethesda, MD 20852


  • 9:30-9:40 a.m.
    Anastasia Wise - National Human Genome Research Institute
    Tina Urv - Eunice Kennedy Shriver National Institute of Child Health and Human Development
    Video | Slides 
  • 9:40-10:00 a.m.
    North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) Project
    The North Carolina Newborn Exome Sequencing for Universal Screening (NC NEXUS) project is studying the usefulness of this type of genetic testing in healthy newborns and those with conditions identified through standard newborn screening. The project is also developing tools to help parents make informed decisions about participating in this research.

    Cynthia Powell, University of North Carolina at Chapel Hill
    Video | Slides  
  • 10:00-10:20 a.m.
    NBSeq Project
    The UCSF NBSeq project explores potential applications of whole exome sequencing (WES) to public health newborn screening (NBS). In this presentation, we discuss WES from dried blood spots to diagnose newborns identified through screening for severe combined immunodeficiency (SCID), as well as preliminary results from focus groups examining parents' views and value preferences regarding NBS with WES.

    Jennifer Puck, University of California, San Francisco (UCSF)
    Video | Slides

    Barbara Koenig, University of California, San Francisco (UCSF)
  • 10:20-10:40 a.m.
    Clinical and Social Implications of 2-day Genome Results in Acutely Ill Newborns
    There are 8,000 genetic diseases. Together they are the leading cause of death in infants, especially those in Neonatal Intensive Care Units. We have developed methods for diagnosis of genetic diseases in 26 hours using whole genome sequencing. We are investigating the usefulness of 26-hour genomes for management of acutely ill infants.

    Stephen Kingsmore, Children's Mercy Hospital - Kansas City, Mo., Rady Children's Hospital - San Diego
    Video | Slides
  • 10:40-11:00 a.m.
    The BabySeq Project
    How can access to one's genome from the beginning of life shape healthcare? The BabySeq Project performs sequencing on healthy and sick newborns, returning results to explore how families and doctors use this information. The data remains available if the child later develops a disorder with a possible genetic cause.

    Alan Beggs, Brigham and Women's Hospital, Boston, Mass. 
    Meghan Towne, Boston Children's Hospital, Boston, Mass.

    Ingrid Holm, Baylor College of Medicine, Houston, Texas
    Video | Slides 

Last updated: November 23, 2015