GeneDx Study Shows Significant Healthcare Cost Savings and Improved Outcomes for Children After Genomic Testing
A new real-world data study presented by GeneDx has revealed that genomic testing can dramatically reduce healthcare costs and improve clinical outcomes for children with neurodevelopmental disorders. The findings were unveiled at the **American College of Medical Genetics and Genomics (ACMG) Annual Meeting held in **Baltimore, Maryland, highlighting the growing importance of genomic medicine in pediatric care.
The study, known as the Genetic Sequencing Analysis has Value in Economic Savings (SAVES)-Kids Study, examined the real-world economic impact of whole exome sequencing (WES) and whole genome sequencing (WGS) in children diagnosed with neurodevelopmental conditions. These disorders include conditions such as Epilepsy, Developmental Delay, and Intellectual Disability, which often require extensive medical evaluations, hospital visits, and ongoing treatments.
According to the study results, children who underwent genomic testing through GeneDx’s ExomeDx and GenomeDx experienced a reduction of up to 61% in overall healthcare costs within the first 12 months following testing. Importantly, these savings were observed regardless of whether the test produced a positive, possible, or negative genetic diagnosis.
The Role of the SAVES-Kids Study
The SAVES-Kids analysis was conducted as a Health Economics and Outcomes Research (HEOR) study, designed to evaluate how genomic testing influences healthcare spending and resource utilization. Researchers examined real-world healthcare data for children who underwent exome or genome sequencing, comparing healthcare costs and utilization patterns before and after testing.
The results demonstrated that genomic testing can significantly reduce the overall cost burden on healthcare systems while also improving patient care. This reduction in costs was largely driven by fewer hospitalizations and reduced emergency room visits following testing. When clinicians have access to accurate genetic diagnoses, they are better equipped to provide targeted treatments and avoid unnecessary or ineffective interventions.
In many cases, children with complex neurological symptoms undergo a lengthy diagnostic journey involving multiple tests, specialist visits, and hospital stays before receiving a definitive diagnosis. Genomic testing helps shorten this process, often referred to as the “diagnostic odyssey,” by identifying underlying genetic causes earlier in the clinical pathway.
Cost Savings for Children with Epilepsy
One of the most notable findings from the study involved children presenting with epilepsy. Prior to genomic testing, the average annual healthcare cost for these patients was approximately $130,048 per patient per year. However, in the 12 months following exome or genome sequencing, this cost decreased to $50,798 per patient per year.
This represents an average reduction of $79,250 per patient annually. The majority of these savings were attributed to fewer hospitalizations, which are typically one of the largest contributors to healthcare spending in patients with severe neurological conditions.
By identifying the genetic cause of epilepsy earlier, clinicians are able to choose more precise treatment options and avoid repeated hospital admissions related to uncontrolled seizures or ineffective therapies.
Improvements for Medicaid Patients
The study also examined children covered by Medicaid and found similarly significant improvements in healthcare costs and utilization. For these patients, the average reduction in total healthcare costs was approximately 53% in the year following genomic testing.
This reduction translated into roughly $50,000 in healthcare cost savings per patient during the first year after testing. The cost improvements were primarily driven by substantial decreases in acute care utilization.
In fact, the study reported an 80% decrease in hospitalizations and a 70% reduction in emergency room visits among Medicaid patients in the year following genomic testing. These findings suggest that genomic testing can be particularly beneficial for public healthcare systems, where reducing unnecessary hospitalizations can significantly ease financial pressures.
Interestingly, while hospital and emergency care utilization declined, the study observed moderate increases in outpatient visits and pharmacy costs. However, these increases are considered positive indicators because they suggest that patients are receiving more proactive and targeted care in outpatient settings rather than relying on expensive emergency interventions.
Impact on Children with Developmental Delay and Intellectual Disability
The SAVES-Kids study also evaluated outcomes for children diagnosed with developmental delay and intellectual disability. While cost reductions in this group were somewhat smaller than those observed in epilepsy patients, the findings still demonstrated meaningful improvements.
Overall healthcare costs for children with developmental delay and intellectual disability declined by approximately 19% in the year following exome or genome testing. This equates to about $9,000 in cost savings per patient during the first year.
Similar to the epilepsy findings, these cost reductions were driven primarily by decreased use of acute care services. The study found that hospitalizations decreased by 80% and emergency room visits declined by 50% among these patients after genomic testing.
At the same time, outpatient and pharmacy costs increased modestly. Outpatient care costs rose by 38%, while pharmacy costs increased by 37%. However, researchers noted that this shift reflects a more effective use of healthcare resources, as ongoing therapy and outpatient management are typically more beneficial and less costly than repeated hospital admissions.
The Importance of Early Genomic Testing
Despite strong clinical guidelines recommending whole exome and whole genome sequencing as first-tier diagnostic tools for many neurological disorders, many children still do not receive genomic testing early in the course of their illness.
Symptoms such as seizures, developmental delays, or intellectual disabilities often appear in infancy or early childhood. However, without genomic testing, clinicians may spend years conducting various diagnostic tests before identifying the root cause of the condition.
The SAVES-Kids study highlights the potential benefits of implementing genomic testing earlier in the diagnostic process. Early testing can help clinicians transition patients away from episodic, high-cost emergency care toward more structured and preventive care pathways.
This shift not only improves patient outcomes but also reduces the financial burden on healthcare systems by minimizing unnecessary procedures and hospital visits.
Leadership Perspective from GeneDx
Executives at GeneDx emphasized that the findings reinforce the value of genomic medicine in modern healthcare. Katherine Stueland, President and CEO of GeneDx, stated that the data clearly demonstrates the transformative impact of early genetic testing.
According to Stueland, faster access to exome and genome sequencing enables clinicians to shorten the diagnostic process and implement more precise treatment strategies. The new data provides real-world evidence that genomic testing not only improves clinical outcomes but also significantly reduces avoidable healthcare spending.
The study also underscores the broader impact of genomic testing in public healthcare programs such as Medicaid, where reducing emergency care utilization can have a substantial economic impact.
The Future of Genomic Precision Medicine
Another key perspective came from Linda Genen, Chief Medical Officer at GeneDx. She highlighted that genomic sequencing delivers measurable benefits for both patients and healthcare systems.
According to Genen, earlier adoption of genomic testing enables children to receive targeted treatments sooner, which improves outcomes and helps healthcare providers allocate resources more efficiently. She emphasized that precision medicine is not only better for patient care but also represents a smarter and more sustainable approach to healthcare management.
GeneDx’s Leadership in Rare Disease Diagnosis
GeneDx is widely recognized as a leader in the field of rare disease diagnostics. The company provides genetic testing solutions that help physicians identify the underlying genetic causes of complex medical conditions.
A major factor behind GeneDx’s leadership in this area is its extensive genomic data resources. The company has developed GeneDx Infinity, one of the world’s largest rare disease genomic datasets. This dataset includes more than one million exomes and genomes and over 2.5 million genetic tests.
By combining this vast genomic dataset with healthcare insights from Komodo Health, GeneDx is able to analyze real-world patient data and identify patterns that can improve diagnostic accuracy and treatment strategies.
The company’s approach allows healthcare providers to leverage genomic information to make faster, more informed decisions when treating patients with rare or complex diseases.
Transforming Pediatric Healthcare
The SAVES-Kids study demonstrates how genomic testing can fundamentally transform pediatric healthcare. By identifying the genetic causes of neurological disorders earlier, clinicians can provide more targeted care, reduce unnecessary hospitalizations, and improve long-term health outcomes.
The findings also highlight the broader value of integrating genomic medicine into standard clinical practice. As genomic technologies continue to advance and become more widely available, their role in healthcare is expected to expand significantly.
For families navigating complex neurological disorders, early genomic testing may provide not only a diagnosis but also a clearer path toward effective treatment and better quality of life.
Overall, the study reinforces a growing consensus within the medical community: genomic sequencing is no longer just a specialized research tool. It is becoming an essential component of modern healthcare, offering both clinical and economic benefits for patients, providers, and healthcare systems alike.
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
