New Study Highlights the Potential of Genetic Testing in Cerebral Palsy Care

Genetic sequencing could identify precision medicine interventions for individuals with CP

January 30, 2025
Headshot of Jennifer Bain, MD, PhD

Jennifer M. Bain, MD, PhD

Genetic testing has revealed that up to 30% of cerebral palsy (CP) cases may have an identifiable genetic cause, but the impact of genetic findings on clinical care remains underexplored. 

New research now suggests that genetic testing could profoundly impact the management of CP. The WFCPC’s Jennifer M. Bain, MD, PhD, and Jason B. Carmel, MD, PhD, together with a working group of international experts conducted a systematic review and meta-analysis to assess the clinical utility of genetic findings in CP, focusing on its role in preventive care, symptom management, and treatments. Published in JAMA Pediatrics, the findings underscore the potential of precision medicine to provide tailored interventions for individuals with CP.

The study reviewed genetic findings from 1,841 individuals with CP, identifying pathogenic or likely pathogenic variants in 27% of cases. Among these, 58 genes were classified as actionable, meaning genetic insights could lead to changes in clinical management. Importantly, the study found that preventive strategies, when identified early, offered the highest clinical utility.

For families navigating the complexities of CP, this research brings hope. Genetic testing could offer not only answers but also actionable solutions. “For instance, identifying a genetic variant might guide the use of a specific medication or adjustment in diet that could prevent complications or improve quality of life,” explained Dr. Bain, who heads the WFCPC’s genetics program. “By understanding the genetic underpinnings, we can provide physicians and families with more targeted, effective care strategies that can lower the long-term cost of care.”

While current evidence highlights the moderate-to-high clinical utility of these interventions, the research group, led by Michael Kruer, MD from Phoenix Children’s Hospital, stressed the need for further studies to expand the treatment landscape.

“It is extremely exciting that even at this early point in our understanding of how genetics and cerebral palsy interact it is already changing medical management. We expect more clinical options as our knowledge grows and targeted genetic therapies become available.”

Dr. Bain and Dr. Carmel along with other collaborators previously published a paper on Genetic Testing in Individuals with Cerebral Palsy, and found that genetics testing can be beneficial to all patients with CP, even if there is a clear understanding of what could have caused the injury to the brain. Their continued efforts will allow the field to better understand what a diagnosis of CP means, and how it can lead to more effective treatments.