Medscape: DNA Gains, Pediatricians Leverage Fast Genetic Testing for Neurodevelopmental Disorders
By Lara Salahi
At Children's Hospital Colorado, Aurora, Colorado, pediatricians will soon have a new ally in diagnosing and identifying complex neurodevelopmental conditions like epilepsy, attention-deficit/hyperactivity disorder (ADHD), and autism: Genetic testing.
Later this year, primary care clinicians and pediatricians at the health system will be able to initiate genetic testing for children with neurodevelopmental and other disorders directly through the electronic health record system. The goal is to make diagnosing genetic conditions and finding DNA variants more efficient.
“Pediatricians are busy. They are seeing lots of patients. They don’t have a lot of time,” said Scott Demarest, MD, a neurologist and medical director of the Precision Medicine Institute at the facility in Aurora, Colorado. “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.”
Demarest and his colleagues in 2023 analyzed data from genetic testing of children with epilepsy at the health system. They found that between 2016 and 2020, the time from when a child first had a seizure to when they underwent testing decreased from 3 years to 8 months. The percentage of tests that successfully identified a genetic cause for their seizures remained roughly stable (11%-13% over the study period) despite a 292% increase in the average number of tests conducted per month. Over 75% of the genetic variants found to cause disease helped inform clinicians on treatment decisions, Demarest said.
Tomi Pastinen, MD, PhD, director of the Center for Pediatric Genomic Medicine at Children’s Mercy Kansas City in Kansas City, Missouri, spearheaded a similar approach in rural communities, providing primary care clinicians with direct access to genomic testing.
Direct-to-provider testing shortened the time to diagnosis by 5.5 months compared with the standard method of first referring patients to a specialist. For instance, genetic testing ordered by a primary care provider showed that the cause of autism and global developmental delay in one patient was caused by a pathogenic variant in a gene, ZNF462, known as Weiss-Kruszka syndrome, a rare condition with a prevalence estimated to be less than one in a million people.
“We’ve found that directly empowering primary care providers to order genetic tests can uncover undiagnosed genetic disorders in these underserved populations,” he said.
Read the full article via Medscape