Purpose: Understanding the value of genetic screening and testing for monogenic disorders requires high-quality, methodologically robust economic evaluations. This systematic review sought to assess the methodological quality among such studies and examine opportunities for improvement.
Methods: We searched Pubmed, Cochrane, Embase, and Web of Science for economic evaluations of genetic screening/testing (2013-2019). Methodological rigor and adherence to best practices were systematically assessed using the BMJ checklist.
Results: Across 47 identified studies, there was substantial variation in modeling approaches, reporting detail, and sophistication. Models ranged from simple decision trees to individual-level microsimulation, comparing between two and >20 alternative interventions. Many studies failed to report sufficient detail to enable replication or did not justify modeling assumptions, especially for costing methods and utility values. Meta-analyses, systematic reviews, or calibration were rarely used to derive parameter estimates. Nearly all studies conducted some sensitivity analysis, and more sophisticated studies implemented probabilistic sensitivity/uncertainty analysis, threshold analysis, and value of information analysis.
Conclusion: We describe a heterogeneous body of work and present recommendations and exemplar studies across the methodological domains of (1) perspective, scope, and parameter selection, (2) use of uncertainty/sensitivity analyses, and (3) reporting transparency for improvement in the economic evaluation of genetic screening/testing.