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 Children’s Hospital and Brigham and Women’s 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 what’s appropriate and what’s not,” said Alan Beggs, director of the Manton Center for Orphan Disease Research at Children’s, 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 Children’s, where the DNA analysis may be helpful in determining whether there is a genetic cause of the babies’ health problems.
Only half of the babies in each pool of participants 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.
The babies whose DNA is sequenced will have their results returned to the parents and the pediatrician, and they will be followed over time, to see how the information affects medical decision-making and also whether it has any psychological impact on the family.
Beggs said he is most interested to find out in how many cases newborn sequencing can provide information that is clinically useful. Not every analysis will pinpoint life-changing information, and not every search for a cause of sickness will zero in on an underlying gene mutation, but once physicians have a better handle on what percentage of cases benefit from such study, it will help inform thinking about how broadly the technology should be used. Already, he has already seen powerful examples of how DNA sequencing can help families.
For example, a child who was put on the transplant list because of her dangerously enlarged liver had her DNA sequenced earlier this year. She was found to have a very rare genetic mutation that causes liver problems that spontaneously resolve, a life-changing piece of information. She was taken off the transplant list and her liver has begun to regress, Beggs said, thereby avoiding a surgery that would have affected her health for a lifetime and required her to take powerful drugs to suppress her immune system.
The research study will cover the costs of the sequencing, which is a little under $1,000 for the portion of the genome that contains genes.
“I think we're very close to a tipping point where the added cost of doing this is going to be close to the benefit that accrues,” Beggs said. “Personally, I strongly believe in the future the benefits will far outweigh the costs, but we’re somewhere near the point right now.”
Carolyn Y. Johnson can be reached at firstname.lastname@example.org. Follow her on Twitter @carolynyjohnson.