GeneDx Expands Exome and Genome Testing to Include Cerebral Palsy
GeneDx (Nasdaq: WGS), a leader in providing genomic insights to enhance health outcomes, announced today the expansion of its genetic testing services to include cerebral palsy (CP). In celebration of Cerebral Palsy Awareness Month, the company is broadening its focus on pediatric rare diseases to now include CP, offering genetic testing for pediatric patients affected by this condition. This expansion emphasizes the company’s commitment to improving access to exome and genome testing for CP patients, with the goal of reducing the diagnostic journey and speeding up the path to treatment.
GeneDx, a leader in genomic insights aimed at improving health outcomes, is enhancing its commitment to supporting patients and families by shortening the diagnostic odyssey and accelerating treatment options for individuals with cerebral palsy (CP). The company’s expansion of its genetic testing services to include CP patients aligns with its ongoing strategy to focus on pediatric rare diseases. This new initiative is designed to provide much-needed genetic insights that can dramatically change the trajectory of care for children with CP, ultimately improving the accuracy of diagnoses and the timeliness of treatments.
Cerebral palsy is one of the most common childhood disabilities, with approximately 10,000 new diagnoses each year. Traditionally, CP has been associated with birth-related issues such as asphyxia or birth trauma. However, groundbreaking research in collaboration with GeneDx reveals that CP is often linked to genetic causes. In fact, about 300 genes have been identified as potential contributors to CP, and in roughly one-third of cases, a genetic condition is the primary cause. This shift in understanding emphasizes the importance of genetic testing as a critical step in diagnosing and managing CP.
The ability to identify a genetic cause for CP can significantly improve the way medical professionals approach treatment. Research shows that a genetic diagnosis can lead to more personalized care strategies, reduce healthcare costs, and facilitate access to clinical trials. As medical research continues to advance, there is growing recognition that genetic factors play a more significant role in CP than previously thought, and targeted treatments are becoming increasingly available.
Dr. Michael Kruer, Director of the Pediatric Movement Disorders Program at Phoenix Children’s Hospital, highlighted the growing importance of genetic testing for CP. “More cases of CP may be due to genetic causes than birth-related injuries,” said Dr. Kruer. “Our analyses have shown that more than 1 in 4 genetic forms of CP are clinically actionable, meaning that identifying the causative gene can directly impact the patient’s treatment plan. As gene-targeted therapies continue to evolve, this proportion will only grow.”
GeneDx’s exome and genome sequencing services enable clinicians to gain comprehensive insights into the genetic factors contributing to CP. This testing can offer vital information that helps doctors create personalized treatment plans, determine eligibility for targeted therapies, and provide access to relevant clinical trials. The company’s collaboration with biopharmaceutical partners further supports this initiative by ensuring patients have access to cutting-edge therapies and research opportunities.
Paul Kruszka, MD, FACMG, Chief Medical Officer at GeneDx, explained the importance of this genetic breakthrough for families. “For too long, parents of children with CP have felt guilty about birth trauma, but today, thanks to our expertise in exome and genome sequencing, we can provide genetic insights that offer a new way to understand and manage CP,” he said. “This initiative is part of GeneDx’s ongoing commitment to providing families with the answers they need.”
Dr. Scott Meyers, a neurodevelopmental pediatrician at Geisinger, echoed these sentiments, stating, “It has become clear that cerebral palsy is often caused by genetic variants, even in those with perinatal risk factors, and genetic testing has a critical role in identifying the underlying causes of CP. This is a significant development in the etiologic evaluation of CP.”
In addition to providing advanced genetic testing for CP patients, GeneDx has also committed to furthering research in this area. The company has published data in JAMA from a study involving more than 1,300 patients with CP, revealing that exome and genome sequencing provided a diagnostic rate of over 30%. GeneDx has also partnered with Geisinger on an ongoing research collaboration focused on CP, aiming to create a large-scale harmonized dataset for gene discovery and additional research in this field.
The availability of genetic testing for CP patients marks a significant step forward in the healthcare community’s understanding of the condition. By identifying genetic factors that contribute to CP, healthcare providers can offer more accurate and timely diagnoses, leading to better outcomes for patients and families.
GeneDx’s commitment to providing cutting-edge genetic testing aligns with its broader mission of offering personalized, targeted medical care. With a strong focus on rare diseases, the company’s exome and genome tests are designed to unlock clinical answers that improve health outcomes and accelerate drug discovery. As the use of genetic insights continues to evolve in the medical field, GeneDx remains at the forefront of innovation, striving to transform the way rare diseases like CP are understood and managed.
About GeneDx:
GeneDx (Nasdaq: WGS) is dedicated to providing personalized, targeted medical care through genetic diagnoses. The company leverages one of the world’s largest rare disease datasets to offer industry-leading exome and genome tests. These tests translate complex genomic data into clinical insights, enabling personalized health plans, accelerating drug discovery, and improving healthcare system efficiency. GeneDx continues to lead innovation in genomic testing to provide answers for families affected by rare diseases, improving patient outcomes worldwide.
