Genetic Testing May Alter Care For Almost Half With Neurodevelopmental Disorders

Including genetic testing in evaluations for children with autism, developmental delay and other neurodevelopmental disorders often leads to major changes in care, researchers say.

In a study looking at medical records for 316 children treated at a multidisciplinary clinic at the University of California, Los Angeles, researchers found that 42% of those who did genetic testing learned that they had or likely had a rare genetic condition.

This genetic information prompted 70% of patients to be referred to cardiac, gastrointestinal or other specialists. And, almost a third of the children learned about potential medical issues to watch out for.

In addition, the diagnoses led some children to change medications or be referred to a clinical trial.

“This study shows that taking a genetics-informed approach to neuropsychiatric care can make a meaningful difference for patients with neurodevelopmental disorders,” said Dr. Aaron Besterman of Rady Children’s Institute for Genomic Medicine in San Diego, a senior author of the study.

The researchers said that their findings show how genetic testing can lead to more individualized care and they emphasized the need for genomic medicine to be a priority in clinician training.

“Early testing really transforms the care that a patient gets,” said Dr. Julian Martinez, a medical geneticist at UCLA Health and an author of the study.