Genetic testing transforms care pathways for children with neurodevelopmental disorders
UCLA Health study demonstrates significant impact of genetic diagnostics on treatment decisions and specialist referrals in complex neurodevelopmental cases, pointing towards more personalised medical approaches.
Integration of genetic screening
A comprehensive study from UCLA Health has revealed that incorporating genetic testing into the clinical evaluation of children with neurodevelopmental disorders (NDDs) leads to substantial modifications in their care pathways. The research, published in Genetics in Medicine on 18 December 2024, examined outcomes from a pioneering multidisciplinary clinic approach combining expertise in genetics, psychiatry, neurology, and psychology.
The investigation, which analysed medical records of 316 patients treated between 2014 and 2019, demonstrated that genetic testing identified confirmed or probable rare genetic conditions in 42% of tested individuals. This diagnostic yield significantly influenced subsequent medical management decisions.
Impact on clinical management
The identification of genetic factors prompted various adjustments to patient care strategies. Analysis revealed that 14% of patients underwent medication modifications following genetic diagnosis. More notably, 70% of patients received new specialist referrals, with cardiac and gastrointestinal specialists being the most frequently consulted.
The study highlighted that 30% of patients required alterations to their medical surveillance protocols based on genetic findings. Additionally, 3% of patients were directed towards potentially beneficial clinical trials, opening new therapeutic possibilities.
Multidisciplinary approach benefits
The UCLA Care and Research in NeuroGenetics (CARING) Clinic was established to address limitations in the traditional referral system. Dr Julian Martinez, study senior co-author and medical geneticist at UCLA Health, explained: “There was a gap in care for patients with rare genetic, neurodevelopmental, and psychiatric disorders.”
The clinic’s integrated approach enables simultaneous evaluation of diverse symptoms by multiple specialists, potentially reducing diagnostic delays and improving intervention timing for children with complex needs.
Future implications for clinical practice
The findings suggest broader implications for healthcare delivery models. Dr Aaron Besterman, study senior author and former UCLA Health Postdisciplinary Researcher, currently at Rady Children’s Institute for Genomic Medicine, noted: “This study shows that taking a genetics-informed approach to neuropsychiatric care can make a meaningful difference for patients with neurodevelopmental disorders.”
The research indicates that approximately half of children presenting with neurodevelopmental differences have underlying genetic diagnoses. This high prevalence, combined with frequent co-occurring neuropsychiatric conditions, emphasises the importance of comprehensive genetic evaluation in initial assessments.
Training considerations
The study’s findings highlight the growing significance of genomic medicine in clinical practice. Dr Martinez emphasised that “Early testing really transforms the care that a patient gets,” suggesting that genomic medicine should be prioritised in clinical training programmes.
As diagnostic technologies continue to advance and the catalogue of identified rare genetic diseases expands, the integration of genetic testing into standard clinical protocols becomes increasingly relevant for optimal patient care.
The observational study’s results support the value of multidisciplinary, genetics-informed approaches in managing complex neurodevelopmental conditions, potentially offering a model for healthcare systems adapting to emerging precision medicine capabilities.
Reference:
Martinez, J., Besterman, A., et al. Genomics-informed Neuropsychiatric Care for Neurodevelopmental Disorders: Results from A Multidisciplinary Clinic. Genetics in Medicine. December 18, 2024.
