دورية أكاديمية
Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods.
| العنوان: | Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods. |
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| المؤلفون: | Ferket BS; Institute for Healthcare Delivery Science, Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY. Electronic address: bart.ferket@mountsinai.org., Baldwin Z; The Comparative Health Outcomes, Policy and Economics (CHOICE) Institute, School of Pharmacy, University of Washington, Seattle, WA., Murali P; Division of Medical Genetics, Department of Medicine, University of Washington Medical Center, University of Washington, Seattle, WA., Pai A; Institute for Healthcare Delivery Science, Department of Population Health Science and Policy, Icahn School of Medicine at Mount Sinai, New York, NY., Mittendorf KF; Department of Translational and Applied Genomics (TAG), Kaiser Permanente Center for Health Research, Kaiser Permanente Northwest, Portland, Oregon; Vanderbilt-Ingram Cancer Center, Vanderbilt University Medical Center, Nashville, TN., Russell HV; Texas Children's Cancer Center, Baylor College of Medicine, Houston, TX; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX., Chen F; Program in Bioethics, University of California San Francisco, San Francisco, CA; Institute for Human Genetics, University of California San Francisco, San Francisco, CA., Lynch FL; Kaiser Permanente Center for Health Research, Portland, OR., Lich KH; Department of Health Policy and Management, University of North Carolina at Chapel Hill, Chapel Hill, NC., Hindorff LA; Division of Genomic Medicine, National Human Genome Research Institute, National Institutes of Health, Bethesda, MD., Savich R; Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS; Division of Neonatology, School of Medicine, University of New Mexico Health Sciences Center, Albuquerque, NM., Slavotinek A; Department of Pediatrics, University of California San Francisco, San Francisco, CA., Smith HS; Center for Medical Ethics and Health Policy, Baylor College of Medicine, Houston, TX., Gelb BD; Departments of Pediatrics and Genetics & Genomic Sciences, Mindich Child Health and Development Institute, Icahn School of Medicine at Mount Sinai, New York, NY., Veenstra DL; The Comparative Health Outcomes, Policy and Economics (CHOICE) Institute, School of Pharmacy, University of Washington, Seattle, WA. |
| المصدر: | Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2022 Oct; Vol. 24 (10), pp. 2014-2027. Date of Electronic Publication: 2022 Jul 14. |
| نوع المنشور: | Journal Article; Review; Research Support, N.I.H., Extramural |
| اللغة: | English |
| بيانات الدورية: | Publisher: Elsevier Country of Publication: United States NLM ID: 9815831 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1530-0366 (Electronic) Linking ISSN: 10983600 NLM ISO Abbreviation: Genet Med Subsets: MEDLINE |
| أسماء مطبوعة: | Publication: 2022- : [New York] : Elsevier Original Publication: Baltimore, MD : Lippincott, Williams & Wilkins, c1998- |
| مواضيع طبية MeSH: | Exome*/genetics , Genetic Testing*/methods, Child ; Cost-Benefit Analysis ; Female ; Humans ; Infant, Newborn ; Pregnancy ; Quality-Adjusted Life Years ; Exome Sequencing/methods |
| مستخلص: | Purpose: Methodological 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. Methods: We 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. Results: Reflecting 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. Conclusion: Our frameworks can guide the design of model-based CEAs and ultimately foster robust evidence for the economic value of GS/ES. Competing Interests: Conflict of Interest K.F.M. has received institutional support from GE Healthcare. D.L.V has received institutional support from Foundation Medicine. All other authors declare no conflicts of interest. (Copyright © 2022 American College of Medical Genetics and Genomics. All rights reserved.) |
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| معلومات مُعتمدة: | U01 HG009599 United States HG NHGRI NIH HHS; U01 HG007292 United States HG NHGRI NIH HHS; U01 HG006485 United States HG NHGRI NIH HHS; U24 HG007307 United States HG NHGRI NIH HHS; R01 HG009694 United States HG NHGRI NIH HHS; K99 HG011491 United States HG NHGRI NIH HHS; U01 HG006487 United States HG NHGRI NIH HHS; U01 HG007301 United States HG NHGRI NIH HHS; U01 HG009610 United States HG NHGRI NIH HHS |
| فهرسة مساهمة: | Keywords: Cost-effectiveness analysis; Decision modeling; Economic evaluation; Exome sequencing; Genome sequencing |
| تواريخ الأحداث: | Date Created: 20220714 Date Completed: 20221011 Latest Revision: 20230310 |
| رمز التحديث: | 20240628 |
| مُعرف محوري في PubMed: | PMC9997042 |
| DOI: | 10.1016/j.gim.2022.06.004 |
| PMID: | 35833928 |
| قاعدة البيانات: | MEDLINE |
| تدمد: | 1530-0366 |
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| DOI: | 10.1016/j.gim.2022.06.004 |