Beginning in early 2014, many newborns in Boston will have their entire genomes sequenced as a part of a five-year study to explore the effect of DNA sequencing on their future medical care.
The study, run by Brigham and Women’s Hospital and Boston Children’s Hospital, will take 480 newborn babies and families, half from the nursery at Brigham and Women’s and half from the neonatal intensive care unit at Boston Children’s, to determine where DNA analysis is effective in learning whether there is a genetic cause of newborn health problems. The study is funded by a $6 million grant from the National Institutes of Health.
“These analyses will help illuminate the full spectrum of benefits and risks associated with genome sequencing of newborns,” said Dr. Alan Beggs, the principal investigator of the study and the director of the Manton Center for Orphan Disease Research at Boston Children’s Hospital in a press release on Wednesday.
Massachusetts currently mandates that all babies be screened for conditions that are treatable, but not clinically evident in the newborn period. This study would go beyond these conventional screening methods to compare outcomes that occur when genomic newborn sequencing is used instead, according to the release.
Chief of Biomedical Genetics at Boston University School of Medicine Dr. Lindsay Farrer said although all babies in Massachusetts are screened for a number of rare conditions, this neo-natal screening could help make a diagnosis early. However, he is not sure if the study will be truly worthwhile.
“[The study] will probably pick up a number of things that may not be done on routine screening,” he said. “The majority of the things that they are going to find, however, are going to have low predictive value.”
Because genes show both causal factors and risk factors, Ferrar said most of what the researchers will find are risk factors — in other words, a child might be genetically disposed to having adult onset diabetes, but might not actually fall ill to it later in life.
“For all the time, effort and money that is invested in doing this screening, they will only learn something on one out of many patients,” he said.
Natasha Bonhomme, vice president at Genetic Alliance — an organization that launched the nation’s first center on newborn screening education — said she was concerned about support for the parents.
“There needs to be a lot of educational material on this idea that parents can make an informed decision with what happens next with their family, in this case with their newborn,” she said. “At the end of the day, this day isn’t about some interesting piece of technology. They are finding out about the health of their child.”
Farrer said there could be other potential problems with parents understanding their child’s genetic makeup at such an early point in the child’s life.
“What are the parents going to do with that information, especially if it’s associations that are related with mental health?” he said. “You are already potentially stigmatizing your child.”
Even though there are concerns about the study, Bonhomme said it is a great educational opportunity for the professionals and parents.
“There is a really great opportunity with this to be a little bit ahead of the game in thinking about what people need beyond a test and what would happen in a lab,” she said.
Farrer said the study will teach health care professionals new information about the human genome, even though much of the genome is still not understood.
“There are things to be learned, but this is not going to be the be all and end all,” he said. “We know a lot [about the genome] but there is probably umpteen times more that we do not.”