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

ng method, but has been used to confirm the screening results of some disorders, such as cystic fibrosis.

Each of the new awards will consist of three parts: Genomic sequencing and analysis; research related to patient care; and the ethical, legal and social implications of using genomic information in the newborn period. Teams of researchers will work to further the understanding of disorders that appear in newborns and to improve treatments for these diseases using genomic information. The four grantees are:

Brigham and Women's Hospital and Boston Children's Hospital, Boston

Principal Investigators: Robert Green, M.D., and Alan Beggs, Ph.D.

This research project will accelerate the use of genomics in pediatric medicine by creating and safely testing new methods for using information obtained from genomic sequencing in the care of newborns. It will test a new approach to newborn screening, in which genomic data are available as a resource for parents and doctors throughout infancy and childhood to inform health care. A genetic counselor will provide the genomic sequencing information and newborn screening results to the families. Parents will then be asked about the impact of receiving genomic sequencing results and if the information was useful to them. Researchers will try to determine if the parents respond to receiving the genomic sequencing results differently if their newborns are sick and if they respond differently to receiving genomic sequencing results as compared to current newborn screening results. Investigators will also develop a process for reporting results of genomic sequencing to the newborns' doctors and investigate how they act on these results.

Children's Mercy Hospital Kansas City, Mo.

Principal Investigator: Stephen Kingsmore, M.D.

Many newborns require care in a neonatal intensive care unit (NICU), and this group of newborns has a high rate of disability and death. Given the severity of il
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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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