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GeneDx Expands Commercial Footprint for Exome and Genome Testing with Cerebral Palsy as a New Indication

GeneDx Expands Commercial Footprint for Exome and Genome Testing with Cerebral Palsy as a New Indication

GeneDx Recognizes Cerebral Palsy Awareness Month with Commitment to Improve Access to Testing

GAITHERSBURG, Md.–(BUSINESS WIRE)–
GeneDx (Nasdaq: WGS), a leader in delivering improved health outcomes through genomic insights, announced today an indication expansion for its industry leading genetic testing to now include cerebral palsy (CP). In conjunction with Cerebral Palsy Awareness Month, the company is expanding its strategy of focusing on pediatric rare disease patients to now include offering testing for pediatric patients with CP. This strategic indication expansion underscores the importance of improving access to exome and genome testing for patients with CP to shorten the diagnostic odyssey and accelerate the path to treatment.

GeneDx underscores its commitment to improving patient care by shortening the diagnostic odyssey and accelerating the path to treatment—the most impactful way to support individuals with CP and their families.

As one of the most common childhood disabilities, each year approximately 10,000 children are diagnosed with CP.1,2 Historically, birth-related issues such as asphyxia and birth trauma have been seen as the primary causes; however, recent research done in collaboration with GeneDx shows there are approximately 300 genes associated with CP, and in nearly 1 in 3 CP patients, a genetic condition is identified as the underlying cause.3,4 A genetic diagnosis has been shown to guide a more tailored approach for medical management, reduce healthcare costs, and improve access to clinical trials. 5

“More cases of CP may be due to genetic causes than to birth-related injuries6,” said Michael Kruer, MD, Director of the Pediatric Movement Disorders Program at Phoenix Children’s. “Furthermore, our analyses have shown that more than 1 in 4 genetic forms of CP are clinically actionable7, meaning that detecting a causative gene would be anticipated to change that patient’s treatment right now. As gene-targeted therapies continue to grow, that proportion is only expected to increase.”

GeneDx’s industry leading exome and genome empower clinicians with comprehensive genetic insights to uncover genetic factors contributing to CP. The testing provides valuable information that can guide personalized treatment and management strategies, including helping to identify potential eligibility for targeted therapies or clinical trials with GeneDx’s biopharmaceutical partners as well as connecting with advocacy groups.

“Our focus to expand access to genetic testing for cerebral palsy patients reflects GeneDx’s commitment to bring the power of genomics to more families seeking answers,” said Paul Kruszka, MD, FACMG, Chief Medical Officer. “For too long parents of children with CP have unnecessarily carried guilt about birth trauma, but today we can leverage our expertise in exome and genome sequencing to provide critical genetic insights that can transform the way CP is understood and managed.”

“It has become clear that cerebral palsy is often caused by genetic variants, even in those who have perinatal risk factors, and genetic testing has an important role in the etiologic evaluation,” said Scott Meyers, MD, Neurodevelopmental Pediatrician at Geisinger.

Beyond comprehensive testing to help this patient population, GeneDx has also invested in supporting research to further the understanding of exome and genome testing as a diagnostic tool for CP patients. GeneDx published data in JAMA from a cohort of more than 1300 patients with CP and found that exome and genome sequencing delivered a more than 30% diagnostic rate for these patients. GeneDx has an ongoing collaboration with Geisinger focusing on CP to create a large-scale harmonized dataset for gene discovery and additional research. To learn more visit https://www.genedx.com/cerebral-palsy.

About GeneDx:

At GeneDx (Nasdaq: WGS), we believe that everyone deserves personalized, targeted medical care—and that it all begins with a genetic diagnosis. Fueled by one of the world’s largest, rare disease data sets, our industry-leading exome and genome tests translate complex genomic data into clinical answers that unlock personalized health plans, accelerate drug discovery, and improve health system efficiencies. For more information, please visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.

1.

Durkin MS, Benedict RE, Christensen D, et al. Prevalence of Cerebral Palsy among 8-Year-Old Children in 2010 and Preliminary Evidence of Trends in Its Relationship to Low Birthweight. Pediatric Perinat Epidemiol. 2016 Sep;30(5):496-510. doi: 10.1111/ppe.12299

2.

Maenner MJ, Blumberg SJ, Kogan MD, et al. Prevalence of cerebral palsy and intellectual disability among children identified in two U.S. National Surveys, 2011-2013. Ann Epidemiol. 2016 Mar;26(3):222-6. doi: 10.1016/j.annepidem.2016.01.001

3.

Srivastava S, Lewis SA, Cohen JS, et al. Molecular Diagnostic Yield of Exome Sequencing and Chromosomal Microarray in Cerebral Palsy: A Systematic Review and Meta-analysis. JAMA Neurol. 2022 Dec 1;79(12):1287-1295. doi: 10.1001/jamaneurol.2022.3549

4.

Moreno-De-Luca A, Millan F, Pesacreta DR, et al. Molecular Diagnostic Yield of Exome Sequencing in Patients With Cerebral Palsy. JAMA. 2021;325(5):467-475. doi:10.1001/jama.2020.26148.

5.

Srivastava S, Cole JJ, Cohen JS, Chopra M, Smith HS, Deardorff MA, Pedapati E, Corner B, Anixt JS, Jeste S, Sahin M, Gurnett CA, Campbell CA; Intellectual and Developmental Disabilities Research Center (IDDRC) Workgroup on Advocating for Access to Genomic Testing. Survey of the Landscape of Society Practice Guidelines for Genetic Testing of Neurodevelopmental Disorders. Ann Neurol. 2024 Nov;96(5):900-913. doi: 10.1002/ana.27045

6.

Nelson KB, Blair E. Prenatal Factors in Singletons with Cerebral Palsy Born at or near Term. N Engl J Med. 2015 Sep 3;373(10):946-53. doi: 10.1056/NEJMra1505261. PMID: 26332549.

7.

Lewis SA, Chopra M, Cohen JS, Bain JM, Aravamuthan B, Carmel JB, Fahey MC, Segel R, Wintle RF, Zech M, May H, Haque N, Fehlings D, Srivastava S, Kruer MC. Clinical Actionability of Genetic Findings in Cerebral Palsy: A Systematic Review and Meta-Analysis. JAMA Pediatr. 2025 Feb 1;179(2):137–44. doi: 10.1001/jamapediatrics.2024.5059. PMID: 39621323; PMCID: PMC11612911.

 

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KEYWORDS: United States North America Maryland

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