REIsearch NEWS

12/03/2020

Ultra-Fast Genome Sequencing Could Save the Lives of Newborns

Whole genome tests can help identify the cause of a baby's mysterious illness. But ethicists say it's still too soon to use them for all infants.

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 Children’s 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 didn’t 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 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.”

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