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Key takeaways:
- Some Medicaid plans have made meaningful progress toward coverage policies that support first-tier ES/GS for children with developmental delay, intellectual disability, and epilepsy.
- Among patients who underwent stepwise testing, prior genetic testing added an average of 19 months and $2,039 in costs before ES/GS.
- Modeling estimated that a first-tier ES/GS approach could save $294 per patient per year over five years, equivalent to approximately $1.7 million in annual savings across the study cohort.
- Further adoption of first-tier ES/GS may reduce unnecessary testing, accelerate diagnosis, and improve long-term budget performance.
- For the remaining Medicaid plans that still require prior testing, the findings support continued alignment with current evidence and professional society guidance.
Progress in Medicaid ES/GS coverage
Medicaid plans have made meaningful progress in updating coverage policies for exome and genome sequencing (ES/GS) with evidence and professional society guidance. The American Academy of Pediatrics, the American College of Medical Genetics and Genomics, and the National Society of Genetic Counselors, with endorsement from the American Epilepsy Society, recommend ES/GS as a first-tier test for children with developmental delay, intellectual disability, and epilepsy.1-3
Many plans have responded by expanding access to first-tier ES/GS. However, some plans continue to require prior genetic testing before authorizing ES/GS. For the plans that still require prior testing, a key policy question is whether stepwise testing provides meaningful value compared with a first-tier ES/GS approach.
The SAVES-Kids study examined this question using real-world data from children covered by Medicaid and a model of costs over five years. The findings suggest that continued adoption of first-tier ES/GS may reduce unnecessary testing, shorten the time to ES/GS, and improve long-term budget performance.4
How the SAVES-Kids analysis compared testing pathways
GeneDx researchers, working with collaborators from Komodo Health, linked healthcare claims with sequencing data for 5,821 children covered by Medicaid with developmental delay, intellectual disability, and/or epilepsy who received ES/GS between January 1, 2017, and January 31, 2024.
Patients were grouped based on how they reached ES/GS:
- First-tier ES/GS: patients who received ES/GS as their first genetic test.
- Stepwise testing: patients who had one or more genetic tests before ES/GS.
The analysis then compared current real-world genetic testing patterns with a modeled scenario in which ES/GS was used as the first genetic test for all patients.
Overall, 59% of patients received first-tier ES/GS, while 41% underwent stepwise testing before ES/GS. Because the data covers 2017 through 2024, these patterns likely reflect a time when evidence, clinical recommendations, use by clinicians, and coverage policies were changing.
For patients who underwent stepwise testing, researchers modeled a first-tier ES/GS approach by assuming ES/GS was the initial genetic test. The model removed the costs and use of healthcare services linked to testing before ES/GS. It kept each patient's actual experience after ES/GS but moved it earlier in the care journey. This allowed researchers to estimate how costs and healthcare utilization may have differed if ES/GS had been used first.
What the SAVES-Kids analysis found
Among the 2,395 patients who underwent stepwise testing, the period of genetic testing before ES/GS averaged 19 months. Those patients incurred an average of $2,039 in genetic testing costs before reaching ES/GS.
In the modeled first-tier ES/GS scenario, the stepwise group had lower overall costs across the five-year period. The overall difference was an estimated $294 in savings per patient per year. Across the full cohort, that equated to approximately $1.7 million in annual savings.
The model included both proactive, personalized care costs and acute, reactive care costs. Earlier diagnosis may lead to more targeted care. However, in the model, those costs were more than offset by lower acute care and less use of other healthcare services later.
The analysis may also underestimate the frequency and cost of stepwise testing because not every genetic test is billed through insurance. The true impact of avoiding prior testing could therefore be greater than what was observed in claims.
Why this matters for Medicaid plans
The findings build on the progress Medicaid plans have already made. Many plans have evolved their coverage policies as evidence and professional society guidance have advanced, helping more children access ES/GS earlier in the diagnostic process.
For the remaining plans that still require prior testing, the SAVES-Kids analysis provides additional evidence to support continued modernization. In this study, stepwise testing was associated with additional genetic testing costs and a longer path to ES/GS, while the modeled first-tier approach was associated with lower overall costs over five years.
Further adoption of first-tier ES/GS may help Medicaid plans:
- Reduce unnecessary genetic testing before ES/GS.
- Shorten the time to ES/GS and an earlier genetic diagnosis.
- Enable personalized care management sooner.
- Align coverage criteria with current professional society guidance.
- Improve long-term budget performance by reducing avoidable downstream utilization.
For Medicaid leaders evaluating coverage criteria, this analysis adds to a growing evidence that first-tier ES/GS can support better clinical care and lower costs for children with developmental delay, intellectual disability, and epilepsy.
