Hundreds of newborn babies will have their full DNA sequences analyzed in a five-year, U.S.-funded effort to understand how to use the results in clinical care.
Researchers at four medical centers received funds to look at whether quick studies of babies’ genomes can help explain and treat mysterious diseases and whether genetic analysis can assist doctors caring for healthy children, according to a statement today from the two U.S. agencies funding the $25 million effort, the National Human Genome Research Institute and the National Institute of Child Health and Human Development.
Costs for sequencing the human genome -- the code for making all the body’s cells and proteins -- are dropping. The information within contains clues to health and disease, and researchers are trying to determine when the information is most needed and how to handle it, Alan Guttmacher, director of the child health institute, based in Bethesda, Maryland, said in a statement.
“What happens in a world where genome sequencing is readily available?” said Robert Green, a Harvard University geneticist at Brigham and Women’s Hospital in Boston who’s leading one of the studies. “This is a place where questions of privacy, empowerment, the potential for misunderstanding and miscommunication all collide.”
Doctors are just beginning to study how to use the human genome to predict disease risk and diagnose conditions in adults. A study led by Green and Alan Beggs of Boston Children’s Hospital will receive $6 million to extend this line of inquiry in routine patient care of both ill and healthy babies.
Babies born in the U.S. are routinely screened for numerous disorders. When previously unseen diseases strike, analyzing the whole genome can help doctors diagnose and understand babies’ conditions. The U.S. research effort will provide $5.9 million to Stephen Kingsmore and his colleagues at Children’s Mercy Hospital in Kansas City, Missouri, who have a system for analyzing such children’s full genomes within 50 hours of birth.
The technique has already been used on about 40 newborns in the neonatal intensive care unit, and at least one of them was able to quickly get therapy as a result, Kingsmore said.
“This is an immense need,” he said in a telephone interview. “We think about 30 percent of babies in the NICU could benefit from this type of testing.”
The agencies are also funding a study at the University of California, San Francisco, led by geneticist Robert Nussbaum, that will explore legal and ethical issues in how families receive information about the results of broad-based genetic testing of newborns. Researchers Cynthia Powell and Jonathan Berg at the University of North Carolina, Chapel Hill, will study how to return the results of DNA sequencing to parents in a way that people from a variety of cultures can understand.