The purpose of the Newborn Sequencing In Genomic medicine and public HealTh (NSIGHT) program is to explore, in a limited but deliberate manner, the implications, challenges and opportunities associated with the possible use of genomic sequence information in the newborn period. Funds will be used to stimulate research in three component projects specifically applicable to newborn screening:
Each research project will also collect a comprehensive genomic dataset from infants with known newborn screening results (positive or negative) and analyze those data in the context of one or more of the following research questions:
This program was developed from the advice of experts who attended the December 13-14, 2010 meeting, Newborn Screening in the Genomic Era: Setting a Research Agenda. Funding will be provided jointly by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI).
NIH program explores the use of genomic sequencing in newborn healthcare
NHGRI/NIH News Release, September 4, 2013
Infant Possibilities [popsci.com]
Babies' genomes hold clues that can save their lives, but that same information could be used in far less noble ways. Where should we draw the line?
Popular Science, July 30, 2014
|Robert Green and
|Brigham and Women's Hospital||Genome Sequence-Based Screening for Childhood Risk and Newborn Illness|
Rady Children's Hospital and
|Clinical and Social Implications of 2-day Genome Results in Acutely III Newborns|
|Jennifer Puck, Barbara Koenig, and Pui-Yan Kwok||University of California,
|Sequencing of Newborn Blood Spot DNA to Improve and Expand Newborn Screening|
|Cynthia Powell and Jonathan Berg||University of North Carolina at Chapel Hill||NC NEXUS, North Carolina Newborn Exome Sequencing for Universal Screening|
NHGRI Program Directors
Anastasia Wise, Ph.D.
Division of Genomic Medicine
Division of Genomics and Society
Lu Wang, Ph.D.
Division of Genome Sciences
The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Program Directors
Melissa Parisi, M.D,, Ph.D.
NHGRI Program Analysts
Last Updated: August 3, 2017