GeneDx Expands Exome and Genome Testing Access, Adding Cerebral Palsy as a New Indication
GeneDx (Nasdaq: WGS), a leading innovator in genomic insights, has announced an expansion of its genetic testing services to include cerebral palsy (CP) as an indication. This expansion, strategically aligned with Cerebral Palsy Awareness Month, reflects GeneDx’s continued commitment to advancing healthcare outcomes for pediatric patients with rare diseases. By incorporating CP into its genetic testing portfolio, the company aims to improve accessibility to exome and genome testing, expediting the diagnostic journey and paving the way for earlier and more effective treatments.
The decision to extend genetic testing to CP patients marks a pivotal moment in the field of genomic medicine. Historically, the causes of CP have been primarily attributed to birth-related complications such as asphyxia and birth trauma. However, recent research in collaboration with GeneDx has shed new light on the genetic basis of the condition, revealing that approximately 300 genes are associated with CP. Studies indicate that nearly one in three CP patients has an identifiable genetic condition as the root cause. These insights challenge long-standing beliefs and reinforce the importance of genetic testing in providing an accurate diagnosis, which in turn can inform tailored medical management strategies.
“For too long, parents of children with CP have shouldered unnecessary guilt, believing that birth trauma was the primary cause of their child’s condition,” said Dr. Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx. “Now, with our expertise in exome and genome sequencing, we can offer critical genetic insights that not only improve our understanding of CP but also transform the way we diagnose and manage the condition.”
Cerebral palsy is one of the most prevalent childhood disabilities, affecting approximately 10,000 children annually in the United States alone. Despite its prevalence, the condition has often been misattributed to perinatal events rather than underlying genetic factors. By broadening access to genetic testing, GeneDx seeks to bridge this gap in knowledge and provide affected families with definitive answers, ultimately facilitating improved care, reducing unnecessary medical expenses, and increasing participation in clinical trials.
Dr. Michael Kruer, MD, Director of the Pediatric Movement Disorders Program at Phoenix Children’s, emphasized the significance of these findings. “More cases of CP may be due to genetic causes than to birth-related injuries,” he stated. “Furthermore, our analyses have demonstrated that more than one in four genetic forms of CP are clinically actionable. This means that identifying the causative gene can directly impact the patient’s treatment plan today. As gene-targeted therapies continue to advance, we anticipate that this proportion will only grow.”
GeneDx’s state-of-the-art exome and genome sequencing capabilities provide clinicians with comprehensive genetic insights that can reveal underlying genetic contributors to CP. The testing delivers invaluable information that can guide personalized treatment plans, identify eligibility for gene-targeted therapies, and connect patients with relevant clinical trials. Through its partnerships with biopharmaceutical companies, GeneDx is actively working to expand treatment options for CP patients, ensuring they have access to cutting-edge therapeutic interventions.
Beyond its testing services, GeneDx has made significant contributions to research aimed at enhancing our understanding of CP’s genetic basis. In a landmark study published in the Journal of the American Medical Association (JAMA), GeneDx analyzed data from over 1,300 CP patients and discovered that exome and genome sequencing yielded a diagnostic rate exceeding 30%. This finding underscores the value of genetic testing as a diagnostic tool for CP, reinforcing the need for widespread implementation in clinical practice.
GeneDx is also collaborating with Geisinger on an ongoing research initiative to create a large-scale, harmonized dataset for gene discovery and additional investigations into CP. This project aims to refine the genetic landscape of CP, identify novel genetic variants associated with the condition, and ultimately improve diagnostic accuracy. Such efforts align with the company’s broader mission of harnessing genomic data to drive medical innovation and enhance patient outcomes.
The expansion of genetic testing for CP is not only a scientific breakthrough but also a transformative step for families navigating the complexities of the condition. Genetic diagnosis can provide much-needed clarity, alleviating misplaced parental guilt and enabling healthcare providers to offer more precise interventions. Furthermore, a confirmed genetic diagnosis can help affected families connect with advocacy groups, research initiatives, and specialized care networks, fostering a sense of community and support.
Dr. Scott Meyers, MD, a Neurodevelopmental Pediatrician at Geisinger, highlighted the clinical importance of genetic testing for CP. “It has become increasingly clear that cerebral palsy is frequently caused by genetic variants, even in patients with perinatal risk factors,” he noted. “Genetic testing plays a crucial role in the etiologic evaluation, allowing for a more precise understanding of the condition and enabling the development of targeted therapeutic approaches.”
The implications of GeneDx’s initiative extend far beyond diagnosis. As gene-targeted therapies continue to emerge, a growing number of CP patients with identified genetic variants may soon have access to treatments tailored to their specific genetic profiles. This paradigm shift in medical management could revolutionize care for individuals with CP, improving their quality of life and offering new hope to families affected by the condition.
By championing the integration of genetic testing into CP diagnosis and treatment, GeneDx is setting a new standard in pediatric neurology. The company’s commitment to advancing genetic research, fostering collaborations with medical institutions, and expanding access to cutting-edge genomic tools positions it at the forefront of precision medicine. With this initiative, GeneDx is not only reshaping the narrative around CP but also ensuring that more families receive the answers and support they need.
To learn more about GeneDx’s genetic testing services for cerebral palsy and its ongoing research efforts, visit GeneDx’s official website.
