Funds awarded for newborn genomic sequencing studies

Four grantees have been awarded $5 million each under the Genomic Sequencing and Newborn Screening Disorders research program from the Eunice Kennedy Shriver National Institute of Child Health and Human Development and the National Human Genome Research Institute, according to a press release.

“Genomic sequencing has potential to diagnose a vast array of disorders and conditions at the very start of life,” Alan E. Guttmacher, MD, director of the National Institute of Child Health and Human Development, said in the release. “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.”


Alan E. Guttmacher

The studies being funded will examine the potential for genome and exome sequencing to expand and improve newborn health care. Awardees include Brigham and Women’s Hospital; Children’s Mercy Hospital; University of California, San Francisco; and University of North Carolina at Chapel Hill.

“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, MD, PhD, director of the National Human Genome Research Institute. “This initiative will help us better understand how we can appropriately use this information to improve health and prevent disease in infants and children.”

The Brigham and Women’s Hospital 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,” according to the press release.

Children’s Mercy Hospital researchers will evaluate benefits and risks of rapid genomic sequencing of newborns in the NICU.

The University of California project will explore “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,” according to the press release.

The project from the University of North Carolina at Chapel Hill will “identify, confront and overcome challenges” to implement genomic sequencing into a newborn population.

“These pilot studies build upon the nation’s very successful public health newborn screening programs that reach almost all infants born in the United States,” Guttmacher said. “We will carefully evaluate the use of genomic data in newborns, including how best to deliver genomic information to parents and health care providers, to see how we can improve our care of children, who are, of course, our future.”