Population newborn genetic screening for hypertrophic cardiomyopathy (HCM) is feasible, but its benefits, harms, and cost effectiveness are uncertain.
We developed a microsimulation model to simulate a United States 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, compared to usual care, which included surveillance for individuals with family histories of HCM.
In a cohort of 3.7 million newborns, newborn genetic screening would reduce HCM-related deaths through age 20 by 44 (95% uncertainty interval (95% UI): 10 to 103) but increase the numbers of children undergoing surveillance by 8,127 (95% UI, 6,308 to 9,664). Compared to usual care, newborn genetic screening costs $267,000 per life-year saved (95% UI, $106,000 to $919,000 per life-year saved).
Newborn genetic screening for HCM could prevent deaths but at a high cost and would require many healthy children to undergo surveillance. This study demonstrates 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.