Division of Genomic Medicine Current Research Programs

Newborn Sequencing in Genomic Medicine and Public Health (NSIGHT)

Newborn baby feet and letters of A, T, C, G  

Overview

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:
  • Acquisition and analysis of genomic datasets that expand considerably the scale of data available for analysis in the newborn period.
     
  • Clinical research that will advance understanding of specific disorders identifiable via newborn screening through promising new DNA-based analysis.
     
  • Research related to the ethical, legal and social implications (ELSI) of the possible implementation of genomic sequencing of newborns.
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:
  • For disorders currently screened for in newborns, how can genomic sequencing replicate or augment known newborn screenig results? 
  • What knowledge about conditions not currently screened for in newborns could genomic sequencing of newborns provide?
  • What additional clinical information could be learned from genomic sequencing relevant to the clinical care of newborns?  

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).

News

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

NSIGHT Investigators

Principal Investigator Institution Title
Robert Green and
Alan Beggs
Brigham and Women's Hospital Genome Sequence-Based Screening for Childhood Risk and Newborn Illness
Stephen Kingsmore Children's Mercy Hospital Clinical and Social Implications of 2-day Genome Results in Acutely III Newborns
Robert Nussbaum University of California,
San Francisco
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
 

Funding Opportunity Announcements (FOAs)

  • RFA-HD-13-010: Genomic Sequencing and Newborn Screening Disorders (U19)
  • PAR-13-203: Methods Development for Obtaining Comprehensive Genomic Information from Human Specimens that are Easy to Collect and Store (R43/R44)    

Program Contacts

NHGRI Program Directors

Anastasia Wise, Ph.D.
Division of Genomic Medicine
E-mail: wisea2@mail.nih.gov
 
Joy Boyer
Division of Genomics and Society
E-mail: boyerj@exhange.nih.gov
 
Lucia Hindorff, Ph.D., M.P.H.
Division of Genomic Medicine
E-mail: hindorffl@mail.nih.gov
 
Jeffery Schloss, Ph.D.
Division of Genome Sciences
E-mail: schlossj@exchange.nih.gov  
 
Lu Wang, Ph.D.
Division of Genome Sciences
E-mail: wanglu@mail.nih.gov  
 
The Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) Program Directors
Tiina Urv, Ph.D.
E-mail: urvtiin@mail.nih.gov

NHGRI Program Analysts
Brenda Iglesias
E-mail: brenda.iglesias@nih.gov

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Posted: August 11, 2014