Estimating the burden and economic impact of pediatric genetic disease

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

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.

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Cohort Studies
  • Databases, Factual*
  • Female
  • Genetic Diseases, Inborn / economics
  • Genetic Diseases, Inborn / epidemiology*
  • Hospitalization / economics
  • Humans
  • Infant, Newborn
  • Length of Stay / economics
  • Male
  • Pediatrics*
  • United States / epidemiology
  • Young Adult