2013 News Release: NIH program explores the use of genomic sequencing in newborn healthcare

National Human Genome Research Institute

National Institutes of Health
U.S. Department of Health and Human Services


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National Human Genome Research Institute
www.genome.gov

Eunice Kennedy Shriver National Insititute of Child Health and Human Development
www.nichd.nih.gov

NIH program explores the use of genomic sequencing in newborn healthcare

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

Bethesda, Md., Wed., Sept. 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 screening 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. Participation is voluntary for those research studies that involve returning results of DNA sequencing to families and physicians, and requires that families provide informed consent. Other research focuses on the analysis of de-identified data, which may be useful in developing and improving screening tests.

The four grantees are:

The following numbers represent the newly funded grants: 1U19HD077693-01, 1U19HD077632-01, 1U19HD077627-01, and 1U19HD077671-01.

NHGRI is one of the 27 institutes and centers at the National Institutes of Health. The NHGRI Extramural Research Program supports grants for research and training and career development at sites nationwide. Additional information about NHGRI can be found at www.genome.gov.

About the Eunice Kennedy Shriver National Institute of Child Health and Human Development (NICHD): The NICHD sponsors research on development, before and after birth; maternal, child, and family health; reproductive biology and population issues; and medical rehabilitation. For more information, visit the Institute's website at www.nichd.nih.gov.

About the National Institutes of Health (NIH): NIH, the nation's medical research agency, includes 27 institutes and centers and is a component of the U.S. Department of Health and Human Services. NIH is the primary federal agency conducting and supporting basic, clinical, and translational medical research, and is investigating the causes, treatments, and cures for both common and rare diseases. For more information about NIH and its programs, visit www.nih.gov.

Contact:

NHGRI Communications
Steven Benowitz
(301) 451-8325
Steven.Benowitz@nih.gov

NICHD Communications
Robert Bock
(301) 496-5133
bockr@mail.nih.gov

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Posted: September 4, 2013