COVID-19 Update: We are currently shipping orders daily. However, due to transit disruptions in some geographies, deliveries may be delayed. To provide all customers with timely access to content, we are offering 50% off Science and Technology Print & eBook bundle options. Terms & conditions.
Progress and Challenges in Precision Medicine - 1st Edition - ISBN: 9780128094112, 9780128095027

Progress and Challenges in Precision Medicine

1st Edition

Editors: Mukesh Verma Debmalya Barh
Paperback ISBN: 9780128094112
eBook ISBN: 9780128095027
Imprint: Academic Press
Published Date: 9th January 2017
Page Count: 344
Sales tax will be calculated at check-out Price includes VAT/GST
Price includes VAT/GST

Institutional Subscription

Secure Checkout

Personal information is secured with SSL technology.

Free Shipping

Free global shipping
No minimum order.


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.

Key Features

  • Provides an overview of the growing field of precision medicine
  • Contains chapters from geographically diverse experts in their field
  • Explores important aspects of precision medicine, including applications, ethics, and development


Biomedical researchers, students, clinicians, pathologists, biotechnologists, molecular biologists, data scientists and those who are working in the field of cutting edge omics technology and bioinformatics/computational biology

Table of Contents

  • 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


No. of pages:
© Academic Press 2017
9th January 2017
Academic Press
Paperback ISBN:
eBook ISBN:

About the Editors

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

Debmalya Barh

Debmalya Barh, PhD, holds Master’s and PhD’s degree on Biotechnology and Post-Doc on Bioinformatics. He is honorary Principal Scientist at Centre for Genomics and Applied Gene Technology, Institute of Integrative Omics and Applied Biotechnology, a global platform of multidisciplinary research and advocacy. He has experience with both academic and industrial research and has more than 12 years on bioinformatics and personalized diagnostic/medicine industry experience, with focus on translating academic research into high value commercial products. He has published more than 150 articles in reputed international journals and has edited 15 cutting-edge biotechnology related reference books. He has also co-authored 30+ book chapters. Due to his significant contribution in the field, he has been recognized by Who's Who in the World and Limca Book of Records.

Affiliations and Expertise

Principal Scientist, Centre for Genomics and Applied Gene Technology, Institute of Integrative Omics and Applied Biotechnology, Nonakuri, Purba Medinipur, West Bengal, India

Ratings and Reviews