A new, rapid genetic test shows promise in increasing diagnoses and improving treatment for some children with rare genetic conditions. Many insurers won't cover it, but some states will.
Just 48 hours after her birth in a Seattle-area hospital in 2021, Layla Babayev was undergoing surgery for a bowel obstruction.Two weeks later, she had another emergency surgery, and then developed meningitis. Layla spent more than a month in neonatal intensive care in three hospitals as doctors searched for the cause of her illness.Her parents enrolled her in a clinical trial to check for a genetic condition.
They also point to studies showing rapid whole-genome testing may lower overall health costs by reducing unnecessary hospitalizations, testing, and care.But the test may have its limits. While it is better at identifying rare disorders than older genetic tests, whole-genome sequencing detects a mutation only about half of the time — whether because the test misses something or the patient does not have a genetic disorder at all.
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