So when doctors from Rady’s Institute for Genomic Medicine asked for permission to sequence Maverick’s genome as part of a clinical trial of ultra-rapid sequencing for newborns who are critically ill from an unknown cause, Maverick’s parents didn’t hesitate. The doctors cautioned that they couldn’t guarantee that they would pinpoint a genetic disorder or, if they did, that it could be treated. They gave the standard caveat about genetic testing—that identifying a genetic disorder could affect Maverick’s eligibility for life insurance someday. But even if the sequencing didn’t help him, his participation would contribute to a study that could benefit other babies. “Obviously, the pros outweighed the cons manyfold,” his mother says. “We just wanted his pain to stop.”
Within 36 hours, the Coltins had an answer: Maverick has pyridoxine-dependent epilepsy, caused by a rare mutation of the ALDH7A1 gene, which codes for the enzyme antiquitin. By giving him high doses of vitamin B6 and controlling a couple of amino acids in his diet, doctors stopped the seizures. Maverick, now 2 years old, runs around like a normal, rambunctious toddler. He has hit all his developmental milestones, although they have been somewhat delayed. He hasn’t had a seizure since his treatment began. “Every once in a while, I think back on him being dusky blue and super skinny and hooked up to all these tubes,” says Kara Coltin. “I look at him and it’s hard to believe that happened to him. People who see him on a normal basis would never know he was ever sick.”The technology that saved Maverick’s life stretched the limits of bioinformatics, returning results far sooner than is typical for genetic testing. Rapid sequencing typically takes about seven days for a preliminary diagnosis, while Rady completes ultra-rapid sequencing in three days or less. (In 2018, Rady set a Guinness World Record by sequencing a baby’s genome in 20 hours and 10 minutes.)
[email protected] quickly grew into what its collaborator, the nonprofit Planetary Society, has called its “most successful public participation project ever undertaken.” As WIRED reported in 2000, within months of [email protected]’s launch, more than 2.6 million people in 226 countries were volunteering their spare processing power to parse the mounds of data generated by alien-hunting radio telescopes.
But now ultra-rapid sequencing is moving from an investigational tool to a standard of care. Blue Shield of California is the first insurer to cover rapid and ultra-rapid sequencing of babies and children who have life-threatening and unexplained medical conditions. Since the new policy began in July 2019, 28 babies or children in California have received the testing through Blue Shield, which is just beginning to promote the new coverage.Blue Shield expects that 250 to 500 newborns will be eligible for the whole genome sequencing each year, which represents about 10 percent of their insured babies treated in neonatal intensive care units in California. Company executive vice president Terry Gilliland said he will encourage other Blue Cross and Blue Shield plans around the country to adopt a similar policy. “When you think about all the pain and suffering families go through with sick babies, this is going to be an enormous benefit,” he says.