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

Can sequencing of newborns' genomes provide useful medical information beyond what current newborn screening already provides? Pilot projects to examine this important question are being funded by the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD) and the National Human Genome Research Institute (NHGRI), both parts of the National Institutes of Health. Awards of $5 million to four grantees have been made in fiscal year 2013 under the Genomic Sequencing and Newborn Screening Disorders research program. The program will be funded at $25 million over five years, as funds are made available.

"Genomic sequencing has potential to diagnose a vast array of disorders and conditions at the very start of life," said Alan E. Guttmacher, M.D., director of NICHD. "But the ability to decipher an individual's genetic code rapidly also brings with it a host of clinical and ethical issues, which is why it is important that this program explores the trio of technical, clinical, and ethical aspects of genomics research in the newborn period."

The awards will fund studies on the potential for genome and exome sequencing to expand and improve newborn health care. Genomic sequencing examines the complete DNA blueprint of the cells, and exome sequencing is a strategy to selectively sequence exons, the short stretches of DNA within our genomes that code for proteins.

"We are at a point now where powerful new genome sequencing technologies are making it faster and more affordable than ever to access genomic information about patients," said Eric D. Green, M.D., Ph.D., director of NHGRI. "This initiative will help us better understand how we can appropriately use this information to improve health and prevent disease in infants and children."

Programs currently screen almost all of the more than 4 million infants born in the United States each year. Until now, the testing of DNA has not been a first-line newborn screeni
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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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