Estimating the burden and economic impact of pediatric genetic disease

PURPOSE: To identify the economic impact of pediatric patients with clinical indications of genetic disease (GD) on the US health-care system. METHODS: Using the 2012 Kids’ Inpatient Database, we identified pediatric inpatient discharges with International Classification of Diseases, Ninth Revision, Clinical Modification (ICD-9-CM) codes linked to genetic disease, including well-established genetic disorders, neurological diseases, birth defects, and other physiological or functional abnormalities with a genetic basis. Cohort characteristics and health-care utilization measures were analyzed. Discharges with a GD-associated primary diagnosis were used to estimate the minimum burden; discharges with GD-associated primary or secondary codes established the maximum burden. RESULTS: Of 5.85 million weighted discharges, 2.6–14% included GD-associated ICD-9-CM codes. For these discharges, mean total costs were $16,000–77,000 higher (P < 0.0001) in neonates and $12,000–17,000 higher (P < 0.0001) in pediatric patients compared with background, corresponding to significantly higher total charges and lengths of stay. Aggregate total charges for suspected GD accounted for $14 to $57 billion (11–46%) of the “national bill” for pediatric patients in 2012. CONCLUSION: Pediatric inpatients with diagnostic codes linked to genetic disease have a significant and disproportionate impact on resources and costs in the US health-care system.