Progress and Challenges in Precision Medicine

1st Edition - December 22, 2016
Imprint: Academic Press
Editors: Mukesh Verma, Debmalya Barh
Language: English
Paperback ISBN:
9 7 8 - 0 - 1 2 - 8 0 9 4 1 1 - 2
eBook ISBN:
9 7 8 - 0 - 1 2 - 8 0 9 5 0 2 - 7

Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, l… Read more

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Progress and Challenges in Precision Medicine presents an insightful overview to the myriad factors of personalized and precision medicine. The availability of the human genome, large amounts of data on individual genetic variations, environmental interactions, influence of lifestyle, and cutting-edge tools and technologies for big-data analysis have led to the age of personalized and precision medicine.

Bringing together a global range of experts on precision medicine, this book collects previously scattered information into one concise volume which covers the most important developments so far in precision medicine and also suggests the most likely avenues for future development.

The book includes clinical information, informatics, public policy implications, and information on case studies. It is a useful reference and background work for students, researchers, and clinicians working in the biomedical and medical fields, as well as policymakers in the health sciences.

List of Contributors
Biography
Dedication
Preface
Chapter 1. Introduction: Every Individual Is Different and Precision Medicine Offers Options for Disease Control and Treatment
- 1. What Is Precision Medicine? Personalized Medicine Versus Precision Medicine (C. HIzel, P. Hamet, and J. Tremblay)
- 2. Precision Medicine for Population Health (G. Bartlett)
- 3. Conclusion
Chapter 2. Clinical Next-Generation Sequencing: Enabling Precision Medicine
- 1. Introduction
- 2. Technicalities and Chemistries of NGS
- 3. NGS Data Analysis
- 4. Reference Databases for Disease Associations and Drug Response
- 5. Applications of NGS in Precision Medicine
- 6. Regulatory Concerns With NGS Clinical Genomics
- 7. Conclusion
Chapter 3. Phenotyping in Precision Medicine
- 1. Introduction
- 2. Deep Phenotyping
- 3. Expressivity and Penetrance
- 4. Expressivity
- 5. Penetrance
- 6. Phenotypic Variation in Expressivity and Penetrance
- 7. Pleiotropy
- 8. Diseases and Phenotypes
- 9. Cancer
- 10. Diabetes
- 11. Respiratory Disorders
- 12. Encephalopathy
- 13. Data Mining and Phenotyping
- 14. Approaches for Phenotyping
- 15. Future Directions
Chapter 4. Cancer Genetic Screening and Ethical Considerations for Precision Medicine
- 1. Introduction
- 2. Genetic Testing in Hereditary Cancers
- 3. Ethical Issues Related to Cancer Genetic Screening
- 4. Summary and Conclusions
Chapter 5. Precision Medicine in Primary Health Care
- 1. The Case for Primary Health Care
- 2. Precision Medicine in Primary Health Care: Warfarin and Pharmacogenomics
- 3. Precision Medicine in Primary Health Care: Creating an Informatics System
- 4. Precision Medicine: A Feasibility Study for Primary Health Care
- 5. Precision Medicine in Primary Health Care: Feasibility Results
- 6. Precision Medicine and Implications for Pharmacogenomics in Primary Health Care
- Abbreviations
Chapter 6. Population Approach to Precision Medicine
- 1. Background
- 2. Examples of Different Tumor Types Where Precision Medicine Was Applied
- 3. Different Approaches to Address Challenges in Precision Medicine
- 4. Medical Applications in Health Care Settings
- 5. Challenges and Potential Solutions
- 6. Looking Ahead
- 7. Conclusion
Chapter 7. Regulation of Genomic Testing in the Era of Precision Medicine
- 1. Genomic Testing in the Era of Precision Medicine
- 2. Requisite for Regulation of Genomic Testing
- 3. Perspective of “Beyond the Clinic”
- 4. Assuring the Quality of Data
- 5. Significance of Feedback
- 6. Requisite of Regulatory Body
Chapter 8. Image-Based Modeling and Precision Medicine
- 1. Biomedical Visualization
- 2. Diagnostic Imaging
- 3. Medical Simulation
- 4. Multiscale Engineering in Biology
- 5. Visible Human Project
- 6. Image-Based Models
- 7. Functional Anatomy Simulation
- 8. Cells and Subcellular Systems
- 9. End User Applications
Chapter 9. Sharing Outside the Sandbox? The Child’s Right to an Open Data Sharing Future in Genomics and Personalized Medicine
- 1. Introduction
- 2. Children in Research
- 3. A Changing Landscape for Pediatric Research Participation
- 4. The Research Ethics Review Process and Implications for Data Sharing
- 5. Sharing Outside the Sandbox
- 6. Conclusion
Chapter 10. Lessons Learned From Cohort Studies, and Hospital-Based Studies and Their Implications in Precision Medicine
- 1. The Pyramid of Evidence: A Useful Construct
- 2. An Overview of Study Designs
- 3. Experimental Studies
- 4. Quasi-Experimental Studies
- 5. Nonexperimental/Observational Study Designs
- 6. Cohort Studies
- 7. Case–Control Studies
- 8. The STROBE Statement: The Strengthening the Reporting of Observational Studies in Epidemiology Statement
- 9. Cross-Sectional Studies
- 10. Case Series
- 11. Other Study Designs
- 12. Applications of Clinical Trials, Cohort Studies, and Hospital-Based Studies in Clinical Medicine
- 13. Future Expectations
Chapter 11. Clinical Trials in Precision Medicine
- 1. Introduction
- 2. Phase II Basket Discovery Trials
- 3. Targeted (Enrichment) Phase III Designs
- 4. Adaptive Enrichment Designs
- 5. Conclusion
Chapter 12. Time to Educate Physicians and Hospital Staff in Electronic Medical Records for Precision Medicine
- 1. Introduction
- 2. Linking Clinical Information and Bench Science
- 3. Electronic Medical Record and Clinical Decision Support System
- 4. Electronic Medical Record as a Foundation for Clinical Decision Support System
- 5. Precision Medicine and Supercomputers
- 6. The Use of Bioinformatics and Integrated Knowledge Environments
- 7. Data Integration Facilitating Medical Research
- 8. Ethical Issues in Electronic Health Records
- 9. System Implementation
- 10. eMERGE (Electronic Medical Records and Genomics) Consortium
- 11. Conclusion
Chapter 13. Computational Approaches in Precision Medicine
- 1. Introduction
- 2. Computational Tools in P4 Medicine I: Hardware and Infrastructure
- 3. Computational Tools in P4 Medicine II: Software Resources
- 4. Computational Tools in P4 Medicine III: Biological Databases, Standards, and Ontologies
- 5. Some Relevant Works on Computational Tools in Precision Medicine
- 6. Final Considerations
Chapter 14. Handling Big Data in Precision Medicine
- 1. Introduction
- 2. From Evidence-Based Medicine to Information-Based Precision Medicine
- 3. Computational Challenges for Big Data in Precision Medicine
- 4. Ethical and Legal Challenges for Big Data in Precision Medicine
- 5. Conclusions and Perspectives
Chapter 15. Trends in Precision Medicine
- 1. Introduction
- 2. Phenotyping in Precision Medicine
- 3. Precision Diagnosis
- 4. Biomarkers in Precision Medicine
- 5. Precision Medicine in Diseases
- 6. Role of Nanomedicine in Precision Medicine
- 7. Computational Approaches and Handling of Big Data in Precision Medicine
- 8. Commercial and Market Access Considerations in Precision Medicine
- 9. Policies and Ethical Issues in Precision Medicine
- 10. Precision Medicine for Population Health
- 11. Conclusion
Chapter 16. Personalized Medicine: Interdisciplinary Perspective, World Tidal Wave, and Potential Growth for the Emerging Countries
- 1. A Social and Epistemologic Reflection That Goes Beyond Medicine Frontier
- 2. Exportable Virtues of Precision Medicine
- 3. Conclusion
Index

Mukesh Verma

Dr. Mukesh Verma is a Program Director and Chief in the Methods and Technologies Branch (MTB), Epidemiology and Genetics Research Program (EGRP) of the Division of Cancer Control and Population Sciences (DCCPS) at the National Cancer Institute (NCI), National Institutes of Health (NIH). Before coming to the DCCPS, he was a Program Director in the Division of Cancer Prevention (DCP), NCI, providing direction in the areas of biomarkers, early detection, risk assessment and prevention of cancer, epigenetics, epidemiology, and cancers associated with infectious agents. Since joining the NCI, he has sought to champion the visibility of and investment in cancer epigenetics research both within the Institute and across other federal and non-governmental agencies, and to raise public awareness about controlling cancer. He represents NIH in Common Fund Programs on Epigenomics, Metabolomics, and Molecular Transducers of Physical Activity. Dr. Mukesh Verma holds a M.Sc. from Pantnagar University and a Ph.D. from Banaras Hindu University. He did postdoctoral research at George Washington University and was a faculty member at Georgetown University Medical Center. He has published 161 research articles and reviews and edited five books in cancer biomarkers, epigenetics and epidemiology field.

Affiliations and expertise

Branch Chief, Methods and Technologies Branch, Epidemiology and Genomics Research Program, Division of Cancer Control and Population Sciences, National Cancer Institute, National Institutes of Health, Bethesda, MD, USA

Debmalya Barh

Dr. Debmalya Barh is currently a Visiting Full Professor (Titular, Grade-E) in Bioinformatics and Precision Health at the Department of Genetics, Ecology, and Evolution, ICB, Federal University of Minas Gerais, Brazil and honorary scientist of the Institute of Integrative Omics and Applied Biotechnology (IIOAB), India. With over 20 years of experience, he has led academic, healthcare, molecular diagnostic, and bioinformatics industry endeavors. He works with more than 400 scientists from 100+ top ranked organizations across 40+ countries and has 220+ publications and a branded editor for 10+ cutting-edge omics related reference books. He is an expert in in precision/personalized health and integrative omics-based biomarker and target discovery in infectious and complex lifestyle diseases.

Affiliations and expertise

Federal University of Minas Gerais, Belo Horizonte, Brazil

Life Sciences

Physical Sciences & Engineering

Social Sciences & Humanities

Health