Maverick Coltin seemed like any other newborn when he first came home from the hospital, wearing his beanie cap with bear ears and blue-and-gray onesie and following the typical around-the-clock cycle of sleeping and breastfeeding. But within a couple of days, his parents noticed something was off. At 6 days old, Maverick completely stopped feeding. His arms and legs would stiffen and then release, the spasms punctuated by his cries.

His parents rushed him to Rady Childrens Hospital in San Diego, where EEG monitors recorded that he was having as many as 30 seizures an hour. Doctors scrambled to find the cause. Anti-seizure medicines didnt work, so he was sedated to stop the damage to his brain. His organs started to fail, and his skin turned a dusky blue. His mother, Kara Coltin, walked into his empty nursery at home and cried.

So when doctors from Radys Institute for Genomic Medicine asked for permission to sequence Mavericks genome as part of a clinical trial of ultra-rapid sequencing for newborns who are critically ill from an unknown cause, Mavericks parents didnt hesitate. The doctors cautioned that they couldnt guarantee that they would pinpoint a genetic disorder or, if they did, that it could be treated. They gave the standard caveat about genetic testingthat identifying a genetic disorder could affect Mavericks eligibility for life insurance someday. But even if the sequencing didnt 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 hasnt 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 its 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 Mavericks 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 babys genome in 20 hours and 10 minutes.)

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.

Read more here:
Ultra-Fast Genome Sequencing Could Save the Lives of Newborns - WIRED

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