Landmark Study Shows Average Cost Savings of $80,000 Per Child and Overall Improved Health Outcomes Following GeneDx Exome and Genome Testing

New data shows up to 61% reduction in healthcare costs for children with neurodevelopmental disorders in the 12 months following ExomeDx™ and GenomeDx™ testing, regardless of the test result

GeneDx (NASDAQ:WGS), the leader in rare disease diagnosis and improving health through the power of genomic data, today announced findings from the Genetic Sequencing Analysis has Value in Economic Savings (SAVES)-Kids Study, a real-world data Health Economics and Outcomes Research (HEOR) analysis led by GeneDx that focuses on the economic impact of whole exome sequencing (WES) and whole genome sequencing (WGS) in children with neurodevelopmental disorders, like epilepsy and developmental delay and intellectual disability (DD/ID). The data was unveiled today at the American College of Medical Genetics and Genomics (ACMG) Annual Meeting in Baltimore, MD.

The study demonstrates that GeneDx's ExomeDx™ and GenomeDx™ significantly reduce total healthcare costs in the 12- and 24-months following testing for patients covered by private insurance and Medicaid.

• Savings were primarily driven by fewer hospitalizations and reduced emergency room utilization – patterns consistent with accurate diagnoses and more targeted, high-value care after genomic testing.
• Additionally, the study found that all test result types (positive, possible, and negative) offer significant average cost savings and improved health outcomes.

"This data makes one thing undeniable – early exome and genome testing changes the trajectory of care regardless of test result," said Katherine Stueland, President and CEO of GeneDx. "For years, GeneDx has known that faster access to exome and genome sequencing shortens the diagnostic odyssey and drives more precise clinical action. Now we have clear, real-world evidence showing it also reduces avoidable hospitalizations, lowers emergency room utilization, and meaningfully decreases total healthcare spend – particularly in Medicaid populations where every dollar and every moment matters."

For children presenting with epilepsy:

• Average total healthcare costs decreased 61% from $130,048 per patient per year (PPPY) in the years leading up to GeneDx WES/WGS to $50,798 PPPY in the 12 months following testing
• Average reduction in healthcare costs of $79,250 PPPY
• Reduced hospitalization costs were the largest contributor to these savings

Children with epilepsy covered by Medicaid showcased similar meaningful first-year economic and utilization improvements:

• Average reduction of total healthcare costs of 53% in the year after WES/WGS compared to the year prior to testing, translating to approximately $50,000 in total healthcare cost savings
• Savings were the result of substantial declines in acute care utilization, with 80% fewer hospitalizations and 70% fewer emergency room visits in the year directly after testing
• Decrease in high-cost acute care was coupled with a moderate increase in outpatient and pharmacy costs, suggesting that healthcare resources were being better directed

Children with DD/ID demonstrated the same trends in healthcare resource utilization and average cost savings:

• Total healthcare costs were reduced by 19%, representing approximately $9,000 in total healthcare cost savings in the first-year post-exome or genome testing
• Significant reductions in acute care utilization, with 80% fewer hospitalizations and 50% fewer emergency room visits
• While outpatient costs increased by 38% and pharmacy costs increased by 37%, overall healthcare costs for patients with DD/ID declined
• This shift is consistent with better directed outpatient management and ongoing therapy care decisions informed by the WES/WGS test result

Despite clinical guidelines supporting WES/WGS as a first-tier test, children with neurological disorders often are not tested when the onset of symptoms, like seizures, first begin. The SAVES-Kids HEOR study adds real-world evidence that WES/WGS may help accelerate the transition from episodic, high-cost acute care to more planned outpatient and therapeutic pathways, underscoring the opportunity for health systems to realize greater value when exome and genome testing are implemented earlier in alignment with medical guidelines.

"Exome and genome sequencing deliver better health outcomes and measurable cost savings. The standard of care must reflect that reality," said Linda Genen, MD, MPH, FAAP, Chief Medical Officer at GeneDx. "The earlier genomic testing is implemented, the faster children receive targeted management, and the more efficiently health systems and payors can allocate resources. The data is clear – genomic precision medicine is not just better care, it is smarter healthcare."

As the leader in rare disease diagnosis, GeneDx delivers the #1 genetic test and is the top choice of pediatric and genetic providers nationwide. GeneDx has delivered more rare disease diagnoses than any other organization in the world – a distinction made possible by GeneDx Infinity™, the world's largest rare disease dataset of more than one million exomes and genomes and over 2.5 million tests. By combining patient insights from Komodo Health's Healthcare Map^® with data from GeneDx Infinity, GeneDx is uniquely positioned to help shape a smarter, more proactive healthcare system – improving outcomes for families across the country.

About GeneDx

GeneDx's (NASDAQ:WGS) mission is to empower everyone to live their healthiest life through genomics. GeneDx combines unmatched clinical expertise, advanced technology, and the power of GeneDx Infinity™ – the world's largest rare disease genomic dataset. This unparalleled foundation powers GeneDx's ExomeDx™ and GenomeDx™ tests – ranked #1 by expert geneticists and granted FDA Breakthrough Device designation – enabling clinicians to deliver precise, fast, and actionable diagnoses. GeneDx Infinity also fuels discovery for biopharma, with the most powerful AI-driven genomic intelligence. A genomics pioneer over the last 25 years, diagnosing more than 4,800 genetic diseases and publishing more than 1,000 research publications, GeneDx is building the network that will drive the future of genomic precision medicine. For more information, visit genedx.com and connect with us on LinkedIn, Facebook, and Instagram.

Forward Looking Statements

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