More personalised care for children
18 December 2024:Adding genetic testing to the evaluation of paediatric patients with neurodevelopmental disorders (NDD) resulted in more personalised care, including changes in medication, referrals to clinical trials or specialists, and surveillance for potential medical issues, according to a new UCLA Health study.
Children who present with neurodevelopmental differences, such as autism or global developmental delay, have high rates of co-occurring neuropsychiatric conditions, and almost half have an underlying genetic diagnosis. The current practice of relying on primary care doctors to refer patients to specialists can create delays in diagnoses and interventions for children with complex needs. “There was a gap in care for patients with rare genetic, neurodevelopmental, and psychiatric disorders,” said Dr. Julian Martinez, senior co-author of the study 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.”
Researchers working at the CARING clinic aimed to study whether genetic testing and subsequent treatment at a multidisciplinary clinic would impact the trajectory of care for children with NDD. They reviewed medical charts from 316 patients treated at the clinic from 2014 to 2019.
The study, published in Genetics in Medicine, found that of the 246 patients who underwent genetic testing, 42% had or were likely to have a diagnosis of a rare genetic condition. This genetic diagnosis led to medication changes in 14% of patients, a clinical trial referral in 3% 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.
As we enter an era of more personalised medicine, combining expertise in genetics with specialised 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 – Dr. Aaron Besterman
“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, senior author of the study and former UCLA Health Postdoctoral Researcher, who now works at Rady Children’s Institute for Genomic Medicine. “As we enter an era of more personalised medicine, combining expertise in genetics with specialised 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 receives,” he added, noting that genomic medicine should be at the forefront of clinician training.
