Amelia Sloan — a healthy baby girl — is one of the first to take part in a large-scale research project taking place outside Washington, DC to decode the DNA on hundreds of infants. The babies have been signed up by their parents for what's being called genome sequencing (fully mapping out a person's genes to assess health risks).
The research, which is ongoing, will help determine whether or not genome sequencing should become a standard part of newborn care. But the "newest frontier in the genetic revolution" has raised some very serious eyebrows. Researchers, still in the early stages of the study, are faced with the following questions: Should parents know about the threats facing their children? Should they know if they're carrying genes that could later give them cancer? Would knowing the risks ahead of time help families treat (and deal with) these conditions? And most importantly... Is the technology to be trusted?
To answer those questions, the National Institutes of Health (NIH) announced a $25 million, five-year pilot project spanning across four major cities (Boston, San Francisco, Kansas City and Chapel Hill) to offer up scientifically-backed answers before the technology is offered to all babies.
Genome sequencing would basically build on the newborn screening test heel prick already offered at hospitals, which provides doctors with a spot of blood that tests baby for anywhere between 17 and 30 rare diseases. And though the newborn screening tests help catch (and treat) several thousand affected babies each year, a complete genetic blueprint like genome sequencing would go miles beyond. It could potentially detect hundreds of other conditions — both childhood and adult diseases. The possible downside? While it would prevent treatable diseases, it would also detect some unpreventable conditions. The issue with the science then becomes, would parents want to know what they couldn't prevent?
Doctors and scientists, at the very least, agree — they would.
Former director of the National Cancer Institute, Dr. John Niederhuber, told ABCNews.com, "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?" Niederhuber now oversees one of the largest baby-sequencing research projects to date.
So, where does baby Amelia fit in?
Her mom, a nurse, was eager to enroll baby girl in the studies — even if she wasn't sure 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, she told ABC. "I guess I'm just the type of person, I would rather know and address it."
As for the future of medicine and preventative action, specialists in the field think that DNA-mapping will one day be commonplace. The cost, they estimate, will become way more affordable — and could offer doctors a way to treat sick babies and their families much better.
That said, though, there are still concerns looming in the air. "We aren't even sure that genome-scale sequencing in newborns is really a good idea," UNC lead researcher Dr. Jonathan Berg told ABC. Rather than a one-time mapping, it's possible that "we will use targeted sequencing at certain times in a person's life, when that specific information will actually be medically useful."
Much like creating a designer baby — you've got to ask: Is knowing ahead of time better than knowing at all?