Genomics Health Medical Education grants

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

Overview

The purpose of the Newborn Sequencing n Genomic medicine and public Healh (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).

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