Genetic findings and healthcare utilization among individuals undergoing population genomic screening for actionable hereditary disorders.

Observational study of 50,063 individuals undergoing a genomic screening panel of up to 167 genes — diagnostic yield and real-world impact on healthcare utilization

Among 50,063 individuals undergoing a real-world genomic screening panel (up to 167 genes), 8.6% had pathogenic or likely pathogenic variants for actionable hereditary disorders. Healthcare utilization was higher in individuals with positive results, with a small but significant increase in median post-test costs (+$125), not observed in the negative group. This study shows that population genomic screening can identify at-risk individuals without significantly increasing overall healthcare costs.

Synthesis written by Geno'X. For the full original abstract, please refer to the source publication.

Real-world data from 50,000 individuals are precious for policymakers considering population genomic screening programs. The 8.6% yield for actionable conditions is substantial, and the observed healthcare cost increase appears modest relative to the potential value of early identification. The insurance claims-based design has limitations (clinical outcomes not documented) but remains the only feasible approach at this scale.

Clinical impact: 3/3 · Evidence strength: 1/3 · Novelty: 1/2 · Sample size: 1/1 · Journal quality: 1/1 → Total: 7/10