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NIH program explores the use of genomic sequencing in newborn healthcare
Date:9/4/2013

lness, these newborns may have the most to gain from fast genetic diagnosis through the use of genomic sequencing. The researchers will examine the benefits and risks of using rapid genomic sequencing technology in this NICU population. They also aim to reduce the turnaround time for conducting and receiving genomic sequencing results to 50 hours, which is comparable to other newborn screening tests. The researchers will test if their methods increase the number of diagnoses or decrease the time it takes to reach a diagnosis in NICU newborns. They will also study if genomic sequencing changes the clinical care of newborns in the NICU. Additionally, the investigators are interested in doctor and parent perspectives and will try to determine if parents' perception of the benefits and risks associated with the results of sequencing change over time.

University of California, San Francisco

Principal Investigator: Robert Nussbaum, M.D.

This pilot project will explore the potential of exome sequencing as a method of newborn screening for disorders currently screened for and others that are not currently screened for, but where newborns may benefit from screening. The researchers will examine the value of additional information that exome sequencing provides to existing newborn screening that may lead to improved care and treatment. Additionally, the researchers will explore parents' interest in receiving information beyond that typically available from newborn screening tests. The research team also intends to develop a participant protection framework for conducting genomic sequencing during infancy and will explore legal issues related to using genome analysis in newborn screening programs. Together, these studies have the potential to provide public health benefit for newborns and research-based information for policy makers.

University of North Carolina at Chapel Hill

Principal Investigators: Cynthia Powell, M.D., M.S., and Jon
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Contact: Steven Benowitz
steven.benowitz@nih.gov
301-451-8325
NIH/National Human Genome Research Institute
Source:Eurekalert

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