Maverick Coltrin entered the world a seemingly healthy 8-pound boy. But within a week, he was having seizures that doctors could neither explain nor control. They warned that he would probably die within a few months. “I remember my world just came crashing down,” said his mother, Kara Coltrin, 24.
Coltrin and her husband, Michael, began taking hundreds of photos of their son. Family rushed to San Diego from across the country to meet him before he died.
Then, in a last-ditch effort, doctors at Rady Children’s Hospital-San Diego decided to analyze his DNA in case that it could reveal what was wrong.
In one of his genes, they found a mutation that had caused a seizure disorder. The attacks could be controlled with a few medicines.
Maverick, now a chubby 6-month-old, benefited from a groundbreaking $25 million federal effort studying the value of sequencing babies’ entire DNA, known as their genome.
While his case has shown that genome sequencing can help very sick infants, the potential to uncover diseases and risks hidden in DNA has sparked a debate: What if all babies had their genomes sequenced?
Other researchers in the same federal project, called Newborn Sequencing in Genomic Medicine and Public Health, have been investigating this broader notion, as well as the sticky ethical questions that come with it.
Using genetics to prevent disease has been envisioned since DNA was discovered more than half a century ago. Nowadays, delving into your genetic makeup requires little more than spitting into a tube and mailing away for results. Yet little is known about how easy access to such information could play out.
Many worry about whether parents may treat children differently once they have a window into their future. Researchers also warn that much genetic information isn’t predictive or even accurate, and will undoubtedly lead to anxiety among parents.
“It’s like drinking out of a fire hose,” said Dr. Tracy Trotter, co-chair of the American Academy of Pediatrics’ Council on Genetics.
Interpreting babies’ genes could dramatically reshape how people parent and how children grow up. Meanwhile, a 30-person research team charged with exploring the possibility of sequencing the DNA of every baby born in the United States is trying to develop ethics and guidelines.
Parents regularly ask Trotter about mail-in genetic tests, detailing their projected risks of lactose intolerance or macular degeneration. Other popular services promise to reveal whether your child will be athletic, overweight or go bald at a young age based on your DNA.
Currently, all U.S. babies have their heel pricked within hours of being born so their blood can be tested for dozens of diseases that require immediate treatment. But making the leap to screening babies’ entire DNA profile wouldn’t help most families and would cost a lot more, experts say.
Much of what a genome test would show cannot be clearly interpreted or acted upon. The San Diego program targets babies who seem likely to be suffering from a genetic condition and may have the most to gain from sequencing. Yet successes such as Maverick are still rare; the researchers have been able to diagnose and treat the disease of only a quarter of the children sequenced there.
Genetic science is messy. Many of the 20,000 genes encoded in human DNA remain a mystery to scientists.
Josephine Johnston, director of research at the Hastings Center, likened widespread genome sequencing to requiring people with no symptoms to undergo an MRI or a CT scan. The vast majority of what turns up would be meaningless, but might look alarming and prompt unnecessary tests.
There’s an unresolved tension, said Dr. Jonathan Berg, a genetics professor at University of North Carolina School of Medicine, between parents who want to protect their children with this information and children who may not want to know it.
Yet the dropping costs and availability of genetic testing seems poised to leave skeptics behind. The Boston-based company Veritas Genetics sells entire genome tests for newborns in China for $1,900, and will begin offering the same in the U.S. in the next two years, said chief marketing officer, Rodrigo Martinez. “We have a lot of interest and demand,” he said. “Over the next five to 10 years, it will be very clear: Everybody will be sequenced.”
This vision seems to be shared by Dr. Francis Collins, who runs the National Institutes of Health, which is funding the newborn screening research. In his book “The Language of Life: DNA and the Revolution in Personalized Medicine,” Collins cites the 1997 science fiction movie “Gattaca,” in which parents in the delivery room are told their baby’s chance of developing depression, ADHD and heart failure, as well as a probable age of death.
“Genes are generally not destiny,” wrote Collins, disputing the certainty of some of the predictions. “But a softer version of ‘Gattaca’ may be coming soon.”
Dr. Robert C. Green, a medical geneticist at Brigham and Women’s Hospital in Boston, said he thinks more parents will begin opting for such tests.
“I don’t think we’re actually thinking hard enough about the benefits,” he said.
Guidelines due this summer will not recommend that genome sequencing become a standard part of newborn screening, said Barbara Koenig, who runs the bioethics program at UC San Francisco and co-leads the team with Johnston.
“There’s been a lot of hype and hyperbole around this idea,” she said. “But it’s going to be quite a while before we actually know whether it’s a good idea to sequence every child at birth.”