{"database":"biostudies-literature","file_versions":[],"scores":null,"additional":{"submitter":["Johnson K"],"funding":["NHGRI NIH HHS","University of North Carolina Wilmington","National Institutes of Health","National Human Genome Research Institute"],"pagination":["262-288"],"full_dataset_link":["https://www.ebi.ac.uk/biostudies/studies/S-EPMC8900524"],"repository":["biostudies-literature"],"omics_type":["Unknown"],"volume":["24(2)"],"pubmed_abstract":["<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."],"journal":["Genetics in medicine : official journal of the American College of Medical Genetics"],"pubmed_title":["A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders."],"pmcid":["PMC8900524"],"funding_grant_id":["P50 HG004488","U01 HG006487","2P50 HG004488","2U01 HG006487"],"pubmed_authors":["Johnson K","Lich KH","Saylor KW","Guynn I","Berg JS","Hicklin K"],"additional_accession":[]},"is_claimable":false,"name":"A systematic review of the methodological quality of economic evaluations in genetic screening and testing for monogenic disorders.","description":"<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.","dates":{"release":"2022-01-01T00:00:00Z","publication":"2022 Feb","modification":"2025-04-04T09:10:25.575Z","creation":"2025-02-18T23:36:36.347Z"},"accession":"S-EPMC8900524","cross_references":{"pubmed":["34906467"],"doi":["10.1016/j.gim.2021.10.008"]}}