Cost Effectiveness of Genomic Population Health Screening in Adults: A Review of Modeling Studies and Future Directions

Background Detecting actionable health risks for genetic diseases prior to symptomatic presentation at population scale using genomic test technologies is a preventive health innovation being piloted in multiple locations. Standard practice is to screen for risks only in those with personal or family history of specific disease. Genomic population heath screening has proven feasible and potentially scalable. The value of this intervention in terms of economic benefit has been scientifically modeled by several groups.Content Eight recent cost-effectiveness modeling studies for high penetrance monogenic dominant diseases that used input parameters from 3 different countries are reviewed. Results and their uses in refining implementations are analyzed and the roles for laboratory medicine in facilitating success are discussed.Summary The reviewed studies generally found evidence for cost-effectiveness of genomic population health screening in at least a subset of their base case screening scenario. Sensitivity analyses identified opportunities for improving the likelihood of cost-effectiveness. On the whole, the modeling results suggest genomic population health screening is likely to be cost-effective for high penetrance disorders in younger adults, especially with achievable reductions in test cost effected partially through combining tests for individual disorders into one screening procedure. Policies founded on the models studied should consider limitations of the modeling methods and the potential for impacts on equity and access in the design and implementation of genomic screening programs.