Summary: A study shows that adding genetic testing to the evaluation of children with neurodevelopmental disorders leads to tailored care, including medication changes, specialist referrals, and early surveillance for medical issues.
Takeaways
- Impactful Diagnoses: Genetic testing identified or likely identified rare genetic conditions in 42% of pediatric patients, enabling more precise interventions and care plans.
- Enhanced Care Pathways: Testing led to medication adjustments (14%), clinical trial referrals (3%), and specialty referrals (70%), addressing co-occurring conditions like cardiac and gastrointestinal issues.
- Advancing Personalized Medicine: The multidisciplinary CARING Clinic model highlights the value of integrating genetics into neuropsychiatric care, emphasizing the need for early testing and clinician training in genomic medicine.
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.
Children that present with neurodevelopmental differences, such as autism or global development 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,” says Julian Martinez, MD, PhD, 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.”
Genetic Testing on Children with Neurodevelopmental Disorders
Researchers who work at the CARING clinic 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.
The study, published in Genetics in Medicine, found that of the 246 patients who underwent genetic testing, 42% had or likely had 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.
Further Reading
“This study shows that taking a genetics-informed approach to neuropsychiatric care can make a meaningful difference for patients with neurodevelopmental disorders,” says Aaron Besterman, MD, study senior author and former UCLA Health Postdoctoral Researcher who now works at Rady Children’s Institute for Genomic Medicine. “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 says 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.
