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. 2019 Aug;21(8):1781-1789.
doi: 10.1038/s41436-018-0398-5. Epub 2018 Dec 20.

Estimating the burden and economic impact of pediatric genetic disease

Nina Gonzaludo  1 , John W Belmont  1 , Vladimir G Gainullin  1 , Ryan J Taft  2
Affiliations

Estimating the burden and economic impact of pediatric genetic disease

Nina Gonzaludo et al. Genet Med. 2019 Aug.

Erratum in

Abstract

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.

Keywords: cost; economic burden; genetic disease; health-care utilization; pediatrics.

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Figures

Fig. 1
Fig. 1
Genetic disease (GD) estimates and mean health-care utilization by age. Mean (a) total cost per discharge and (b) length of stay per discharge, by age group for each GD discharge definition. Error bars display standard errors.
Fig. 2
Fig. 2
Mean health-care utilization by number of genetic disease (GD)-associated diagnosis codes. Mean total cost per discharge by number of GD-associated diagnosis codes, stratified by age group. Shaded areas display standard errors.
See this image and copyright information in PMC

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