KC Reporter

Pediatricians at Children's Hospital Colorado in Aurora will soon have access to a new tool for diagnosing neurodevelopmental disorders such as epilepsy, ADHD, and autism: genetic testing. This initiative aims to streamline the process of identifying genetic conditions by allowing primary care clinicians and pediatricians to order tests directly through the electronic health record system.

Scott Demarest, MD, a neurologist and medical director of the Precision Medicine Institute at the hospital, emphasized the need for efficiency given the demanding schedules of pediatricians. "Pediatricians are busy. They are seeing lots of patients. They don’t have a lot of time," he stated. "You have to think about how to make it easy on them, and I think we have the ability from a technology standpoint to start doing that more than we could in the past."

In 2023, Demarest and his team reviewed data from genetic testing on children with epilepsy at their facility. Their analysis revealed that between 2016 and 2020, there was a significant reduction in time—from three years to eight months—between a child's first seizure and subsequent testing. Despite an increase in monthly tests by 292%, the success rate for identifying genetic causes remained steady at around 11%-13%. Notably, over three-quarters of disease-causing variants identified aided clinicians in treatment decisions.

A similar approach has been adopted by Tomi Pastinen, MD, PhD, director of the Center for Pediatric Genomic Medicine at Children's Mercy Kansas City. He implemented direct access to genomic testing for primary care providers in rural areas. This method reduced diagnosis time by 5.5 months compared with traditional referrals to specialists.

Pastinen highlighted a case where direct testing led to identifying Weiss-Kruszka syndrome—a rare condition caused by a pathogenic variant in gene ZNF462—as responsible for autism and developmental delay in one patient. "We’ve found that directly empowering primary care providers to order genetic tests can uncover undiagnosed genetic disorders in these underserved populations," he said.