Dataset Information

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

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.

SUBMITTER: Ferket BS

PROVIDER: S-EPMC9997042 | biostudies-literature | 2022 Oct

REPOSITORIES: biostudies-literature

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Publications

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

Ferket Bart S BS Baldwin Zach Z Murali Priyanka P Pai Akila A Mittendorf Kathleen F KF Russell Heidi V HV Chen Flavia F Lynch Frances L FL Lich Kristen Hassmiller KH Hindorff Lucia A LA Savich Renate R Slavotinek Anne A Smith Hadley Stevens HS Gelb Bruce D BD Veenstra David L DL

Genetics in medicine : official journal of the American College of Medical Genetics 20220714 10

<h4>Purpose</h4>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.<h4>Methods</h4>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 pediatri ...[more]

PMID: 35833928

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Dataset Information

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

Purpose

Methods

Results

Conclusion

Publications

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

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