613 - Reduced Healthcare Resource Utilization and Costs Following Exome or Genome Sequencing in Pediatric Neurodevelopmental Disorders: a SAVES-Kids Study

Publication Number: 4600.613

Colton Frazer, GeneDx, St. Louis, MO, United States; Paul S. Kruszka, University of Virginia, Charlottesville, VA, United States; Olaf Bodamer, Boston Children's Hospital, Boston, MA, United States; Sarah Soto, GeneDx, Oakton, VA, United States; Krystal L. Brown, GeneDx, Gaithersburg, MD, United States; Patricia C. Lopes, GeneDx, Orange, CA, United States; Farah Pathan, Komodo Health, Milton, GA, United States; Xiyuan Wu, Komodo Health, Foster City, CA, United States; Pam Kumparatana, Komodo Health, Chicago, IL, United States; Aaron Mendelsohn, Elev8Evidence, Rockville, MD, United States; Britt Johnson, GeneDx, LLC, Fort Lauderdale, FL, United States

Background: Neurodevelopmental disorders (NDDs) are a common chronic medical condition seen in pediatric primary care. Identifying a molecular diagnosis with exome or genome sequencing (ES/GS) can enable personalized treatment plans for these patients. Clinical management changes often result in cost and health care resource utilization (HCRU) changes, but the magnitude of change has not been broadly studied in these patients.

Objective: Determine the cost and HCRU impacts of outpatient ES/GS for a pediatric cohort with clinical indication of NDD, specifically intellectual disability (ID) and/or developmental delay (DD).

Design/Methods: This is a retrospective cohort study using claims data from Komodo Health, linked with genetic results of pediatric patients who received ES/GS testing from GeneDx between ​​January 1, 2016, and January 31, 2025 (n=4,843). Index date was defined as first eligible ICD-10-CM code, and anchor date was defined as ES/GS test claim date. Patients were eligible for inclusion if they were < 18 years of age at index, had phenotypic evidence of ID or DD, had an ICD-10-CM code consistent with ID or DD, had ≥6 months continuous enrollment (CE) within claims data during the pre-anchor period, and ≥12 months of CE during post-anchor period. HCRU and costs, recorded as any unique medical or pharmacy claim events, were compared before (pre-anchor) and after (post-anchor) ES/GS testing.

Results: The average age at index was 4.1 years old (Table 1). The average duration of pre- and post-anchor follow-up was ​​1.5 years and 2.9 years respectively. In the 12-month period after ES/GS testing, there was a statistically significant reduction in average hospitalizations (79.3%), emergency department visits (48.3%), outpatient visits (12.6%), and imaging/tests/procedures (69.3%; p < 0.001). When comparing average pre- and post-anchor outcomes per patient per year (PPPY), total costs decreased by $9,19​​​2​ (p < 0.001; Table 2). Although proactive care costs (specialty care, occupational therapy, outpatient visits, and pharmacy claims) increased after ES/GS testing by a combined ​​$14,519 PPPY, hospitalization reductions alone accounted for average savings of $18,281 PPPY post-testing.

Conclusion(s): During the study period, there was a significant average reduction in PPPY costs and HCRU in the year after testing for children with NDDs. Significant reductions in hospitalization/emergency department visits and increased proactive care suggest improved medical management and health outcomes for these patients.

Figure 1. Study Diagram


Table 1. Demographic and Clinical Characteristics


Table 2. Change in Health Care Resource Utilization and Costs in the Year Following ES/GS