Incorporating genetic testing into the assessment of pediatric patients with neurodevelopmental disorders (NDD) has led to more tailored care. This includes adjustments in medications, referrals to specialized clinical trials, and monitoring for potential health concerns, as highlighted by a recent study from UCLA Health.
When children exhibit neurodevelopmental differences like autism or global developmental delays, they often experience high rates of additional neuropsychiatric conditions, with nearly half having an undiagnosed genetic disorder. Relying on primary care physicians to direct patients to specialists can cause delays in necessary diagnoses and treatments for these children with complex requirements. Dr. Julian Martinez, a senior co-author of the study and a medical geneticist at UCLA Health, noted, “There was a gap in care for patients facing rare genetic, neurodevelopmental, and psychiatric disorders.” To address this, the UCLA Care and Research in NeuroGenetics (CARING) Clinic was established, which allows a psychiatrist, geneticist, neurologist, and psychologist to assess and manage a wider array of symptoms presented by patients.
The researchers at the CARING clinic sought to explore whether genetic testing and subsequent care at a multidisciplinary clinic could improve the treatment pathways for children with NDD. They analyzed the medical records of 316 patients who were treated at the clinic between 2014 and 2019.
The findings of the study, published in Genetics in Medicine, revealed that out of 246 patients who received genetic testing, 42% were diagnosed or suspected to have a rare genetic condition. This genetic identification triggered medication changes in 14% of the cases, led to clinical trial referrals for 3%, and resulted in adjustments in medical monitoring for 30% of the patients. Additionally, the results indicated that genetic testing prompted specialty referrals in 70% of the children, with cardiac and gastrointestinal issues being the most prevalent.
Dr. Aaron Besterman, a senior co-author of the study and a former Postdoctoral Researcher at UCLA Health, now affiliated with Rady Children’s Institute for Genomic Medicine, remarked, “This study indicates that utilizing a genetics-informed strategy in neuropsychiatric care can significantly enhance outcomes for patients with neurodevelopmental disorders. As we move towards a phase of more personalized medicine, integrating genetic expertise with specialized psychiatric and neurological treatment will be essential for providing holistic care. We aspire for our model to guide healthcare systems in adapting to these new demands.”
With the rapid advancements in technology revealing an increasing number of rare genetic diseases, Martinez stated that these findings substantiate the necessity for genetic testing. “Early testing truly revolutionizes the care patients receive,” he added, emphasizing that genomic medicine should take precedence in clinician education.
