Adding genetic testing to the evaluation of pediatric patients with neurodevelopmental disorders (NDD) resulted in more individualized care, including changes in medication, referrals to clinical trials or specialists, and surveillance for potential medical issues, according to a new UCLA Health study. The team found that of 246 patients who underwent genetic testing, 42% had or likely had a diagnosis of a rare genetic condition.
The study was published in Genetics in Medicine. The lead author is Aaron D. Besterman, MD, of the University of California San Diego Department of Psychiatry.
NDDs are estimated to affect around 15% of children and adolescents worldwide. They lead to impaired cognition, communication, adaptive behavior, and psychomotor skills. Almost half of children with neurodevelopmental differences, such as autism or global development delay, have an underlying genetic condition. Such children also have high rates of co-occurring neuropsychiatric conditions.
The current practice is to rely on primary care doctors to refer patients to specialists. This process can create delays in diagnoses and interventions for these, who have complex needs.
“There was a gap in care for patients with rare genetic, neurodevelopmental, and psychiatric disorders,” said Julian Martinez, study senior co-author and medical geneticist at UCLA Health. “We started the UCLA Care and Research in NeuroGenetics (CARING) Clinic, where a psychiatrist, geneticist, neurologist, and psychologist can evaluate and treat a patient’s wide-ranging symptoms.”
The CARING team aimed to study whether genetic testing and subsequent treatment at a multidisciplinary clinic would impact children with NDD’s trajectory of care. They reviewed medical charts from 316 patients treated at the clinic from 2014 to 2019.
Their new, genetic, diagnosis led to medication changes in 14% of patients, a clinical trial referral in three percent of patients, and changes in medical surveillance for 30% of patients. The study also found that genetic testing led to specialty referrals in 70% of patients, with cardiac and gastrointestinal issues being the most common.
“This study shows that taking a genetics-informed approach to neuropsychiatric care can make a meaningful difference for patients with neurodevelopmental disorders,” said Aaron Besterman, study senior author and former UCLA Health postdoctoral researcher who now works at Rady Children’s Institute for Genomic Medicine.
He added, “As we enter an era of more personalized medicine, combining expertise in genetics with specialized psychiatric and neurological care will become increasingly important for providing comprehensive care. We hope our model can help inform how healthcare systems adapt to meet these emerging needs.”
With advancements in technology capturing the growing number of rare genetic diseases, Martinez said that the findings justify the need for genetic testing. “Early testing really transforms the care that a patient gets,” adding that genomic medicine should be at the forefront of clinician training.
