Could a simple blood test end the diagnostic odyssey for kids with rare diseases?

This study compares two approaches for diagnosing rare genetic diseases in children: doing a comprehensive genome sequencing test right away versus the usual process of waiting to see a genetics specialist first. Researchers will track how quickly and accurately each method leads to a diagnosis, and also measure patient and family experiences and healthcare costs. The goal is to find out if a 'genomics-first' strategy can shorten the long, uncertain wait for answers.