Economic Evaluation in Genomic and Precision Medicine

1st Edition - April 19, 2023
Editors: Christina Mitropoulou, Sarah Wordsworth, James Buchanan, George P. Patrinos
Language: English
Paperback ISBN:
9 7 8 - 0 - 1 2 - 8 1 3 3 8 2 - 8
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 1 3 3 9 4 - 1

Economic Evaluation in Genomic and Precision Medicine provides an in-depth examination of essential concepts, protocols and applications of economic evaluation in genomic and pr… Read more

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Economic Evaluation in Genomic and Precision Medicine provides an in-depth examination of essential concepts, protocols and applications of economic evaluation in genomic and precision medicine. Contributions from leading international medical geneticists and health economists compile new ways to effectively assess the costs and outcomes of different genomic care pathways, implement cost-effective medical interventions, and enhance the value of genomic and precision healthcare. Foundational chapters and discipline-specific case studies cover topics ranging from the economic analysis of genomic trial design, to health technology assessment of next-generation sequencing, ethical aspects, economic policy in genomic medicine, and pricing and reimbursement in clinical genomics.

Cover image
Title page
Table of Contents
Copyright
Contributors
Preface
Chapter 1: Introduction to economic evaluation in health sciences
Abstract
1.1: Introduction
1.2: Key economic concepts and terminology used in health economics
1.3: Economic evaluation
1.4: Concluding remarks
References
Chapter 2: Foundations of pharmacogenomics and personalized medicine
Abstract
Acknowledgments
2.1: Introduction
2.2: Implementing pharmacogenomics into clinical care
2.3: Electronic tools for translating genomic findings into a clinically meaningful format
2.4: Assessing the ethical, societal, and financial aspects of personalized medicine
2.5: Large-scale personalized medicine implementation efforts worldwide
2.6: Conclusions and future perspectives
References
Chapter 3: Economic evaluation of genome-guided treatment in oncology
Abstract
3.1: Introduction
3.2: Methodological challenges
3.3: The inseparability of test and treatment
3.4: Value of testing
3.5: Cost-effectiveness comparator
3.6: Pricing and reimbursement
3.7: Conclusion
References
Chapter 4: Economic evaluation of rare diseases and the diagnostic odyssey
Abstract
Acknowledgment
4.1: Introduction
4.2: Genomics and rare diseases
4.3: Economic evaluations of genomics in rare diseases
4.4: Conclusion
References
Chapter 5: Economic analysis of pharmacogenetics testing for human leukocyte antigen-based adverse drug reactions
Abstract
5.1: Introduction
5.2: Economic evaluation of adverse drug reaction-related human leukocyte antigen genotyping, its guidelines, and current implementations
5.3: Conclusions
References
Chapter 6: Economic evaluation of personalized medicine interventions in medium- and low-income countries with poor proliferation of genomics and genetic testing
Abstract
Acknowledgments
6.1: Introduction
6.2: Implementing personalized medicine interventions beyond high-income countries: Setting the scene
6.3: Examples of economic evaluations of personalized medicine interventions in medium- and low-income countries
6.4: A generic model as tool for measuring cost-effectiveness of personalized medicine interventions in medium- and low-income countries
6.5: Conclusion and future perspectives
References
Chapter 7: Theoretical models for economic evaluation in genomic and personalized medicine
Abstract
7.1: Introduction
7.2: The genome economics model
7.3: Generalization of the genome economics model
7.4: Perspectives
References
Chapter 8: Using “big data” for economic evaluations in genomics
Abstract
8.1: Introduction
8.2: Using “big data” for the economic evaluation of genomic tests
8.3: Analytics for omics data
8.4: Difficulties in using “big data” in for economic evaluation of sequencing tests
8.5: Conclusions
References
Further reading
Chapter 9: Assessing the stakeholder environment and views towards implementation of personalized medicine in a healthcare setting
Abstract
Acknowledgments
9.1: Introduction
9.2: Identifying stakeholders in personalized medicine
9.3: Eliciting and analyzing stakeholder views and opinions related to personalized medicine
9.4: Implementing stakeholder analysis in genomic and personalized medicine: An example from the preliminary assessment of the genomic and personalized medicine environment in Greece
9.5: Defining opportunities and threats when implementing genomic and personalized medicine in Greece
9.6: Concluding remarks
References
Chapter 10: Feasibility for pricing, budget allocation, and reimbursement of personalized medicine interventions
Abstract
10.1: Introduction
10.2: Institutions involved in pricing and reimbursement
10.3: Coverage, pricing, and reimbursement strategies for genomic testing services
10.4: A proposed strategy for pricing and reimbursement in personalized medicine
10.5: Restrictions and concerns
10.6: Conclusions
References
Index

Christina Mitropoulou

Christina Mitropoulou is Managing Director and Principal Investigator at the Golden Helix Foundation (London, UK), a registered UK-Charity with Research and Educational activities in the field of Genomic and Personalized Medicine. Her research interests revolve around the health economic evaluation of genome-guided therapeutic interventions. Also, Christina Mitropoulou participates as Executive Committee member of the Ubiquitous Pharmacogenomics (U-PGx) project and coordinates the health economic evaluation of the PREPARE clinical study on pre-emptive Pharmacogenomics testing, involving approx. 8000 patients from 7 clinical sites and she is an active member of the Pharmacogenomics Access and Reimbursement Coalition. Christina Mitropoulou has published several original articles on this topic in leading scientific journals and has edited two textbooks on economic evaluation in Genomic Medicine that are published by Elsevier/Academic Press.

Affiliations and expertise

Managing Director and Principal Investigator at the Golden Helix Foundation (London, UK), a registered UK-Charity with Research and Educational activities in the field of Genomic and Personalized Medicine

Sarah Wordsworth

Sarah Wordsworth is at the University of Oxford, Medical Sciences Division, Nuffield Department of Population Health, Oxford, UK.

Affiliations and expertise

University of Oxford, Medical Sciences Division, Nuffield Department of Population Health, Oxford, UK

James Buchanan

James Buchanan PhD joined the Health Economics Research Centre in 2005 and works predominantly on projects examining the economics of translating genomic high-throughput technologies from research into clinical practice, especially in cancer and infectious disease. In 2011 he was awarded a National Institute for Health Research Doctoral Research Fellowship to undertake a PhD in Health Economics investigating issues related to the economic analysis of genomic diagnostic technologies for multifactorial genetic diseases in the UK NHS, based on a study evaluating a targeted array in haematological cancers. Previous genomics projects include an economic evaluation of the use of genetic testing to identify the somatic mutations that can cause common cancers, an economic evaluation of the use of genetic tests to identify gastrointestinal pathogens to improve hospital infection control practice, the development of an economic modelling framework to evaluate novel genomic diagnostic tools in inflammatory bowel disease, and a cost-effectiveness analysis of microarray technology in the UK National Health Service. His other interests include costing methodology and the valuation of patient preferences. He also teaches on a range of undergraduate and postgraduate courses at the University of Oxford, and teaches advanced cost-effectiveness analysis methods to health economists and policy makers.

Affiliations and expertise

Health Economics Research Centre, Nuffield Department of Population Health, University of Oxford, Oxford, UK

George P. Patrinos

Dr. George Patrinos is an Associate Professor at the University of Patras School of Health Sciences (Department of Pharmacy) in Patras, Greece with Adjunct positions in Rotterdam, the Netherlands and Al-Ain, United Arab Emirates. His research interests span the fields of molecular diagnostics, high-throughput mutation screening, the development of online mutation diagnostic tools, and the implementation of genomics into healthcare, particularly for health systems in developing countries. George Patrinos has published more than 170 scientific papers in peer reviewed journals on topics related to genetics, genomic medicine, pharmacogenomics, molecular diagnostics, and social and economic evaluation for genomic medicine. Dr. Patrinos is also the co-author of Economic Evaluation in Genomic Medicine (2015) and co-Editor of Molecular Diagnostics, Second Edition (2009), both published by Elsevier, and serves as Communicating Editor for the journal Human Mutation. Additionally, he is co-organizer of the international meeting series “Golden Helix Symposia” and “Golden Helix Pharmacogenomics Days”.

Affiliations and expertise

Department of Pharmacy, School of Health Sciences, University of Patras, Patras, Greece; Department of Genetics and Genomics, College of Medicine and Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates; Zayed Center of Health Sciences, United Arab Emirates University, Al-Ain, United Arab Emirates