biostudies-literatureJohnson KNHGRI NIH HHSUniversity of North Carolina WilmingtonNational Institutes of HealthNational Human Genome Research Institute262-288https://www.ebi.ac.uk/biostudies/studies/S-EPMC8900524biostudies-literatureUnknown24(2)<h4>Purpose</h4>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 examined opportunities for improvement.<h4>Methods</h4>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 British Medical Journal checklist.<h4>Results</h4>Across the 47 identified studies, there were substantial variations in modeling approaches, reporting detail, and sophistication. Models ranged from simple decision trees to individual-level microsimulations that compared between 2 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.<h4>Conclusion</h4>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.Genetics in medicine : official journal of the American College of Medical GeneticsA systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.PMC8900524P50 HG004488U01 HG0064872P50 HG0044882U01 HG006487Johnson KLich KHSaylor KWGuynn IBerg JSHicklin KfalseA systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.<h4>Purpose</h4>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 examined opportunities for improvement.<h4>Methods</h4>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 British Medical Journal checklist.<h4>Results</h4>Across the 47 identified studies, there were substantial variations in modeling approaches, reporting detail, and sophistication. Models ranged from simple decision trees to individual-level microsimulations that compared between 2 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.<h4>Conclusion</h4>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.2022-01-01T00:00:00Z2022 Feb2025-04-04T09:10:25.575Z2025-02-18T23:36:36.347ZS-EPMC89005243490646710.1016/j.gim.2021.10.008