Infant genome sequencing raises ethical issues
WASHINGTON — Little Amelia Sloan is a pioneer: Shortly after her birth, scientists took drops of the healthy baby’s blood to map her genetic code.
Amelia is part of a large research project outside the nation’s capital that is decoding the DNA of hundreds of infants. New parents in a few other cities soon can start signing up for smaller studies to explore if what’s called genome sequencing — fully mapping someone’s genes to look for health risks — should become a part of newborn care.
Nonetheless, the project has drawn a list of ethical questions: Should parents be told only about childhood threats? Or would they also want to learn if their babies carried a key gene for, say, breast cancer after they are grown? Could knowing about future risks alter how a family treats an otherwise healthy youngster? And how accurate is this technology — could it raise too many false alarms?
“This was something that was looming over the horizon,” said Dr Alan Guttmacher, a pediatrician and geneticist at the National Institutes of Health (NIH). Last month, NIH announced a US$25 million (S$31 million), five-year pilot project in four cities — Boston, San Francisco, Chapel Hill, and Kansas City — to start answering some of the questions before the technology is widely offered for babies.
Today, the four million United States babies born annually have a heel pricked in the hospital, providing a spot of blood to be tested for signs of at least 30 rare diseases. This newborn screening catches several thousand affected babies each year in time for early treatment to prevent death, brain damage or other disabilities. It is considered one of the nation’s most successful public health programs.
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 Dr Niederhuber’s Inova Translational Medicine Institute in Falls Church, 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 do not 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 paediatric 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 enrol daughter Amelia, although she thought hard about how she would handle any bad news.