Boston-area team to study DNA sequencing in newborn infants

By early next year, parents of newborns at two Boston hospitals will have the chance to participate in the first randomized study of the medical and ethical repercussions of sequencing the DNA of babies. The research is part of a major federal effort to finally settle a debate that has raged for years about the possible benefits and harms of finding out such information.

The five-year study, a joint effort of Boston Childrens Hospital and Brigham and Womens Hospital, was one of four proposals selected for funding, federal health officials announced Wednesday in a press conference. The National Institutes of Health will spend $25 million over five years to support the program, $6 million of which will support the Boston-based study.

The federal officials listed a litany of questions they hoped the studies, each testing a slightly different application of DNA sequencing to newborn care, would address. They included figuring out which babies might benefit most from the testing, and which genetic conditions should be search for in healthy newborns.

New parents in the Boston area who choose to participate in the research will be randomly assigned to either a group that has their infants DNA sequenced and learns the results, or a group whose babies do not undergo sequencing. The study will test whether that information helps guide the care of babies, and will monitor how pediatricians and parents react to knowing it.

Sequencing the DNA of newborns has been controversial, since the technology can reveal a vast amount of information about a baby, including risk for diseases that lie far in the future. Parents are making decisions to receive information that children might, when they are older, decide they do not want to know. Medical ethicists talk of keeping an open future for children, and knowing genetic information might influence parents relationships with their children. While the information may inform medical care, it might also create undue worry.

One of the goals, the purpose of the whole project, is for us to try and figure out in the real world whats appropriate and whats not, said Alan Beggs, director of the Manton Center for Orphan Disease Research at Childrens, who co-leads the study with Dr. Robert Green, a medical geneticist at the Brigham.

Having their genome is a resource that can be consulted at any age. If an illness occurs, or a new drug is going to be started, or if surgery is going to be considered, Beggs said, their DNA may provide clues about best treatments or important warning signs about risk factors.

Researchers plan to recruit 480 newborn babies and families: half will be healthy babies from the nursery at Brigham and Women's, and half will be from the neonatal intensive care unit at Childrens, where the DNA analysis may be helpful in determining whether there is a genetic cause of the babies health problems.

Among both pools of participants, only half of the babies will have their DNA sequenced; the other half will be followed as a comparison group.

The researchers have yet to decide what genetic risk factors they will look for in both the healthy and sick babies DNA, but Beggs said they would use guidelines released by the American College of Medical Genetics and Genomics earlier this year as a starting point.

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Boston-area team to study DNA sequencing in newborn infants