Maverick Colton with Stephen Kingsmore, founder of the genomics institute that identified the epilepsy that endangered him soon after birth. Picture: Jenny Siegwart - Rady Children's Institute for Genomic Medicine.

Washington - The story of Maverick Coltrin's medical mystery is gripping: Last October, he was just 6 days old when he stopped eating. 

Then the seizures came. His tiny arms and legs would stiffen for a few seconds as many as 30 times per hour. Doctors at Rady Children's Hospital in San Diego tried multiple tests and medications, but nothing revealed what was wrong. When Maverick turned dusty blue, his parents asked, "Do you think he's going to survive?"

The answer: "We're doing everything we can."

"Everything" was about to have a new meaning. Two days later, Kara and Michael Coltrin were asked whether they were willing to have their baby participate in a study that would analyze their and Maverick's DNA to determine if there might be a genetic cause to the infant's distress. 

After the parents said yes, blood samples from the three were run through a powerful new genetic sequencer that can crunch all 3 billion base pairs from each person in record time and reveal the biology behind thousands of common and rare diseases.

Exactly 39 hours later, when he was 9 days old, they got a diagnosis: Maverick had a form of epilepsy that was treatable with vitamin B6 supplements. "I was in disbelief that all we had to do was give him a vitamin to stop his seizures," says Kara Coltrin.

The technology is called rapid whole genome sequencing, and doctors say it could revolutionize health care for acutely sick infants.

"When you have newborn babies with unexplained diseases, many are dying or suffering permanent brain or organ damage," says Stephen Kingsmore, an internist who founded Rady's genomics institute in 2014. (In February, he set a Guinness world record for sequencing a genome in 19.5 hours.) 

"But if we can diagnose them rapidly, we can change those outcomes. If we had to wait four to six weeks with the standard genetic testing that's available nationwide, Maverick would be dead."

As part of a $25-million federal project that funds newborn sequencing research, the Rady team published the results of a study comparing traditional and this newest method in 42 infants with suspected genetic disorders. 

Rapid sequencing offered diagnoses for 18 babies, while standard genetic tests identified a disease in only four cases. Most important, the information from the advanced technique helped doctors recommend lifesaving surgeries or medications for 11 of the infants.

In another trial that randomly assigned 65 infants to either standard genetic testing or rapid sequencing, the evidence for the latter was so compelling that the study was stopped midway. "If you as the investigator truly believe that one technology arm is superior to the other, then it may become unethical to still randomize and deprive half the patients from it," says Josh Petrikin, a neonatologist at Children's Mercy Kansas City and one of the lead authors of that shortened study.

In addition to generating more research, doctors need to identify which patients will receive the most value, adds Kathryn Phillips, who studies healthcare technology at the University of California at San Francisco. "It's unlikely we can help all babies with rapid sequencing," she says. 

In other words, not all patients are like Maverick, for whom rapid sequencing saved his life. For some patients, getting a diagnosis sooner won't change their course of treatment. Some babies have diseases that don't have treatments. Some babies are already terminal.

The Washington Post