Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods |
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| Affiliation: | 1. Institute for Healthcare Delivery Science, Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY;2. The Comparative Health Outcomes, Policy and Economics (CHOICE) Institute, School of Pharmacy, University of Washington, Seattle, WA;3. Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, University of Washington, Seattle, WA;4. Department of Translational and Applied Genomics (TAG), Kaiser Permanente Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon;5. Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN;6. Texas Children''s Cancer Center, Baylor College of Medicine, Houston, TX;7. Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX;8. Program in Bioethics, University of California San Francisco, San Francisco, CA;9. Institute for Human Genetics, University of California San Francisco, San Francisco, CA;10. Kaiser Permanente Center for Health Research, Portland, OR;11. Department of Health Policy and Management, University of North Carolina at Chapel Hill, Chapel Hill, NC;12. Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD;13. Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS;14. Division of Neonatology, School of Medicine, University of New Mexico Health Sciences Center, Albuquerque, NM;15. Department of Pediatrics, University of California San Francisco, San Francisco, CA;16. Departments of Pediatrics and Genetics & Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY |
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| Abstract: | PurposeMethodological challenges have limited economic evaluations of genome sequencing (GS) and exome sequencing (ES). Our objective was to develop conceptual frameworks for model-based cost-effectiveness analyses (CEAs) of diagnostic GS/ES.MethodsWe conducted a scoping review of economic analyses to develop and iterate with experts a set of conceptual CEA frameworks for GS/ES for prenatal testing, early diagnosis in pediatrics, diagnosis of delayed-onset disorders in pediatrics, genetic testing in cancer, screening of newborns, and general population screening.ResultsReflecting on 57 studies meeting inclusion criteria, we recommend the following considerations for each clinical scenario. For prenatal testing, performing comparative analyses of costs of ES strategies and postpartum care, as well as genetic diagnoses and pregnancy outcomes. For early diagnosis in pediatrics, modeling quality-adjusted life years (QALYs) and costs over ≥20 years for rapid turnaround GS/ES. For hereditary cancer syndrome testing, modeling cumulative costs and QALYs for the individual tested and first/second/third-degree relatives. For tumor profiling, not restricting to treatment uptake or response and including QALYs and costs of downstream outcomes. For screening, modeling lifetime costs and QALYs and considering consequences of low penetrance and GS/ES reanalysis.ConclusionOur frameworks can guide the design of model-based CEAs and ultimately foster robust evidence for the economic value of GS/ES. |
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| Keywords: | Cost-effectiveness analysis Decision modeling Economic evaluation Exome sequencing Genome sequencing |
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