Cost-effectiveness frameworks for comparing genome and exome sequencing versus conventional diagnostic pathways: A scoping review and recommended methods

Bart S. Ferket, Zach Baldwin, Priyanka Murali, Akila Pai, Kathleen F. Mittendorf, Heidi V. Russell, Flavia Chen, Frances L. Lynch, Kristen Hassmiller Lich, Lucia A. Hindorff, Renate Savich, Anne Slavotinek, Hadley Stevens Smith, Bruce D. Gelb, David L. Veenstra

Research output: Contribution to journalArticlepeer-review

3 Scopus citations

Abstract

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.

Original languageEnglish
Pages (from-to)2014-2027
Number of pages14
JournalGenetics in Medicine
Volume24
Issue number10
DOIs
StatePublished - Oct 2022

Keywords

  • Cost-effectiveness analysis
  • Decision modeling
  • Economic evaluation
  • Exome sequencing
  • Genome sequencing

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