Benefits, harms, and costs of newborn genetic screening for hypertrophic cardiomyopathy: Estimates from the PreEMPT model

Genet Med. 2023 Apr;25(4):100797. doi: 10.1016/j.gim.2023.100797. Epub 2023 Jan 31.

Abstract

Purpose: Population newborn genetic screening for hypertrophic cardiomyopathy (HCM) is feasible, however its benefits, harms, and cost-effectiveness are uncertain.

Methods: We developed a microsimulation model to simulate a US birth cohort of 3.7 million newborns. Those identified with pathogenic/likely pathogenic variants associated with increased risk of HCM underwent surveillance and recommended treatment, whereas in usual care, individuals with family histories of HCM underwent surveillance.

Results: In a cohort of 3.7 million newborns, newborn genetic screening would reduce HCM-related deaths through age 20 years by 44 (95% uncertainty interval [UI] = 10-103) however increase the numbers of children undergoing surveillance by 8127 (95% UI = 6308-9664). Compared with usual care, newborn genetic screening costs $267,000 per life year saved (95% UI, $106,000 to $919,000 per life year saved).

Conclusion: Newborn genetic screening for HCM could prevent deaths but at a high cost and would require many healthy children to undergo surveillance. This study shows how modeling can provide insights into the tradeoffs between benefits and costs that will need to be considered as newborn genetic screening is more widely adopted.

Keywords: Cost-effectiveness analysis; Genetic testing; Hypertrophic cardiomyopathy; Neonatal screening; Sudden cardiac death.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Cardiomyopathy, Hypertrophic* / diagnosis
  • Cardiomyopathy, Hypertrophic* / genetics
  • Child
  • Cost-Effectiveness Analysis
  • Genetic Testing*
  • Humans
  • Infant, Newborn
  • Neonatal Screening
  • Young Adult

Substances

  • preempt