A complete genetic blueprint would go well beyond what that newborn blood spot currently tells doctors and parents — allowing a search for potentially hundreds of other conditions, some that arise in childhood and some later, some preventable and some not.
“If I truly believed that knowing one’s genome was going to be transformative to medicine over the next decade or more, then wouldn’t I want to start generating that information around the time of birth?” asked Dr. John Niederhuber, former director of the National Cancer Institute who now oversees one of the largest baby-sequencing research projects to date.
At Niederhuber’s Inova Translational Medicine Institute in Falls Church, Va., researchers are mapping the genomes of newborns, along with their parents and other relatives for comparison. The long-term goal of the privately funded study is to uncover genetic patterns that predict complex health problems, from prematurity to developmental disorders.
But the experimental tests will turn up some gene mutations already well-known to cause serious ailments, and participating parents must choose upfront whether to be told. They don’t get a full report card of their baby’s genes. Only ones that cause treatable or preventable conditions — so-called medically actionable findings — are revealed, to the family’s doctor. That means in addition to pediatric diseases, parents also could learn whether a baby carries a particular breast-cancer-causing gene, information useful once she reaches young adulthood.
Nurse Holly Sloan was eager to enroll daughter Amelia, although she thought hard about how she’d handle any bad news.
“If it was something that we could hopefully prevent through diet or exercise or some kind of lifestyle change, we could start with that as early as possible,” said Sloan, of Warrenton, Va. “I guess I’m just the type of person, I would rather know and address it.” Five months after Amelia’s birth, she hasn’t gotten any worrisome results.