Baby DNA analysis ushers in brave new world of treatment

By John Lauerman Bloomberg News KANSAS CITY, Mo. -- When Kira Walker was three weeks old, her pediatrician noticed a problem. She was frequently hungry and had dangerously low blood sugar for no obvious reason. Kira was born in Kansas City, Mo., ...

Dr. Stephen Kingsmore, geneticist at Children’s Mercy Hospital in Kansas City, Mo., says “medicine will be transformed when the genome is part of our medical record. The art of medicine will move closer to becoming a science.” (Bloomberg Photo/Children’s Mercy Hospital)

By John Lauerman

Bloomberg News

KANSAS CITY, Mo. - When Kira Walker was three weeks old, her pediatrician noticed a problem. She was frequently hungry and had dangerously low blood sugar for no obvious reason.

Kira was born in Kansas City, Mo., where her doctors had access to a service few hospitals can match. Her DNA was sent to Children’s Mercy Hospital geneticist Stephen Kingsmore, who is able to determine a diagnosis in a day or two for half the babies with mysterious diseases referred to him. Until recently, these riddles took years to solve, or were never unraveled at all.

Hundreds of babies across the United States are having massive portions of their DNA deciphered as part of a five-year, U.S.-funded project to understand and navigate the brave new world of infant genetic testing. Kingsmore and a handful of other scientists are taking gene sequencing to the next level, using the technology to design treatment for infants with rare and unusual illnesses, and in some cases, finding therapies for genetic abnormalities never seen before.


“The big picture is that medicine will be transformed when the genome is part of our medical record,” he said in an interview in his laboratory. “The art of medicine will move closer to becoming a science.”

About 5 percent of all babies born in the U.S., some 200,000 a year, probably suffer from a rare disorder, said Michael Watson, executive director of the American College of Medical Genetics and Genomics in Bethesda, Md.

Infant genetic testing may succeed in shedding light on conditions such as progeria, the disease of premature aging that killed Sam Berns, a 17-year-old from Foxborough, Mass., who was the subject of a recent HBO documentary. Testing some babies might lead to more knowledge about the disease and perhaps enable early experimental treatment, Watson said.

Sequencing gives a readout of the genome, the instructions each of the body’s cells carries for making and maintaining tissues. Genomes change from one generation to the next and certain alterations can result in diseases, some of them both rare and serious. That’s why sequencing the genes of infants holds so much promise.

Still, many parents and doctors remain wary as health experts grapple with a myriad of issues: who will pay, how much of the information should be shared with families, and whether the procedure should only be used in sick babies. About a quarter of the parents with sick children who are eligible for free genome sequencing through his program decline it, Kingsmore said.

For those who go ahead, the benefits can be dramatic and swift. Kingsmore’s program at Children’s Mercy is among the most technologically advanced in the world. Using powerful sequencers from Illumina Inc., the biggest maker of DNAdecoders, he can sequence a child’s entire genome in 24 hours for about $12,000, which includes interpreting the data. Just over a decade ago, the same process took 10 years and cost more than $2 billion. Once the results are ready it often takes no more than 10 minutes to find the mutation linked to the disease.

In July, Kira Walker began to appear increasingly hungry, and would often awaken to eat ravenously.

“She was starving all the time,” her mother, Amanda Webb, recalled. “All she wanted to do was eat.”


The girl turned out to have very low blood sugar, which is unusual in a young child, and can cause brain damage. Kira’s doctor, Children’s Mercy endocrinologist Mark Clements, gave her glucose through an intravenous tube and a drug to stop her from making insulin, the hormone that lowers blood sugar.

It didn’t work. Her blood sugar levels remained alarmingly low, and she was frequently listless and unresponsive. Clements asked Kingsmore to sequence Kira’s genome. The sample went to the Genome Center on a Friday evening, and by Sunday, Clements had an answer.

“It’s incredible when you think of the years it took us to sequence the first human genome and now we can do it in a weekend,” Clements said.

What Kingsmore found was highly unusual. Kira had inherited a gene mutation from her father that spurs activity in the islet cells that make insulin. However, in an unusual twist, only a portion of her cells had the mutation.

That meant that Kira’s doctors could take out part of her pancreas, rather than the entire gland, an operation that would have rendered her diabetic. With half a pancreas, she continues to make insulin, and at 6 months of age, her blood sugars are now normal.

“It was such a relief,” her mother said. “It was very tense for a while there, and we had little idea of what was going on.”

Kingsmore, who grew up in Northern Ireland the son of a preacher, is determined to offer treatment to babies who never before would have had a chance of healthy survival. Three babies with rare genetic conditions have received bone marrow transplants based on the diagnoses he’s been able to obtain; a fourth is taking an experimental dietary supplement.

“The goal is that every baby will benefit,” he said. “Every child that would benefit from a diagnosis would get one and be evaluated for potential treatment.”


Studies like Kingsmore’s are proliferating across the country. Cynthia Morton, a Harvard University geneticist, has proposed sequencing all the genes of babies who fail hearing tests at Brigham and Women’s Hospital, to see whether vital treatment can be provided more quickly and appropriately.

“Our dream is that we’ll have the genetic results ready when parents follow up with their doctors on the hearing loss,” she said. “They’ll know whether there’s a genetic basis for the hearing loss and can start planning treatment.”

Some babies with genetic deafness are good candidates for cochlear implants, assistive devices that should be surgically installed as early as possible, Morton said. Testing can also help prevent implants from being put in babies who don’t need them, she said.


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