Genomic and Precision Medicine

Genomic and Precision Medicine

Primary Care

3rd Edition - March 23, 2017
  • Editors: Geoffrey Ginsburg, Huntington Willard, Sean David
  • Hardcover ISBN: 9780128006856
  • eBook ISBN: 9780128006542

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Description

Genomic and Precision Medicine: Primary Care, Third Edition is an invaluable resource on the state-of-the-art tools, technologies and policy issues that are required to fully realize personalized health care in the area of primary care. One of the major areas where genomic and personalized medicine is most active is the realm of the primary care practitioner. Risk, family history, personal genomics and pharmacogenomics are becoming increasingly important to the PCP and their patients, and this book discusses the implications as they relate to primary care practitioners.

Key Features

  • Presents a comprehensive volume for primary care providers
  • Provides succinct commentary and key learning points that will assist providers with their local needs for the implementation of genomic and personalized medicine
  • Includes a current overview on major opportunities for genomic and personalized medicine in practice
  • Highlights case studies that illustrate the practical use of genomics in the management in patients

Readership

Medical students, life sciences and engineering graduate students, advanced undergraduate students, residents and fellows working with any aspect of genomic research in the life sciences and/or medicine; educators, and translational scientists

Table of Contents

  • Chapter 1. Genomic Medicine in Primary Care

    • Abstract
    • References

    Chapter 2. Overview of Policy, Ethical, and Social Considerations in Genomic and Personalized Medicine

    • Abstract
    • Abbreviations
    • Introduction
    • Issues in Genetics and Genomics Research
    • Issues Related to Integration of Genomic Medicine Applications in Healthcare
    • Conclusion
    • References

    Chapter 3. Educational Issues and Strategies for Genomic Medicine

    • Abstract
    • Introduction
    • Gaps in Current Healthcare Professional Literacy
    • Educational Opportunities and Resources to Address Genomic Literacy Gaps
    • What Do Healthcare Providers Need to Understand to Implement Genomic Healthcare?
    • Ethical, Policy, and Social Considerations
    • Resources Available
    • Conclusion
    • Glossary terms
    • References

    Chapter 4. Genetic Testing for Rare and Undiagnosed Diseases

    • Abstract
    • Introduction
    • Genotype–Phenotype Causation
    • Genetic Testing Theory
    • Importance of Individual Patient Characteristics in Genetic Test Interpretation
    • Clinical Rationale for Genetic Testing
    • Types of Genetic Testing (Summarized in Table 4.1)
    • Potential Indications for Clinical Genome/Exome Sequencing (CGES)
    • The Acutely Ill Infant
    • Multiple Congenital Anomalies
    • Developmental Delay/Intellectual disability/Autistic Spectrum Disorders
    • Other Rare Disorders and Syndromes
    • Preimplantation and Prenatal Rare Disease Diagnosis
    • Process of Genetic Testing
    • Undiagnosed Diseases Network
    • Conclusion
    • References

    Chapter 5. Health Risk Assessments, Family Health History, and Predictive Genetic/Pharmacogenetic Testing

    • Abstract
    • Introduction
    • Conclusion
    • References

    Chapter 6. Pharmacogenetics and Pharmacogenomics

    • Abstract
    • Introduction
    • Molecular Diagnostics for Optimizing Drug Therapy
    • Drug Metabolism
    • Genetic Polymorphisms of Drug Targets
    • Global Health Applications
    • Application in Drug Development
    • Challenges Going Forward
    • Websites of Use
    • References

    Chapter 7. Hypertension

    • Abstract
    • Abbreviations
    • Introduction
    • Blood Pressure Gene Discovery
    • New BP Genes and Molecular Mechanisms
    • BP Variants and Association with Other Traits and Outcomes
    • Conclusion
    • Acknowledgments
    • References

    Chapter 8. Coronary Artery Disease and Myocardial Infarction

    • Abstract
    • Introduction
    • Pathophysiology of CAD and its Major Complications
    • The Genetic Basis of CAD
    • Mechanistic Insights of Newly Identified Loci
    • Mendelian Randomization Studies in CAD
    • Genetic Risk Prediction in CAD
    • Gene–Gene and Gene–Environment Interactions
    • Whole Exome Sequencing Association Studies of CAD
    • Conclusion and Future Directions
    • Glossary Terms, Acronyms, Abbreviations
    • References

    Chapter 9. Lung Cancer

    • Abstract
    • Introduction
    • Early Diagnosis/Screening of Lung Cancer
    • Classification and Prognosis
    • Pathogenesis and Treatment of Lung Cancer
    • Conclusion
    • Glossary Terms
    • References

    Chapter 10. Breast Cancer

    • Abstract
    • Introduction
    • Germline Genetic Predisposition
    • Early-stage Breast Cancer Management
    • Advanced Metastatic Disease Management
    • Conclusion
    • References

    Chapter 11. Colorectal Cancer

    • Abstract
    • Abbreviations
    • Introduction
    • Genetics of Colorectal Cancer
    • Genetics of Colorectal-Cancer-Associated Syndromes
    • Other CRC-Associated Syndromes
    • Epimutations and Hereditary Colorectal Cancer
    • Genome-Wide Association Studies
    • Novel Colorectal Cancer Predisposing Genes
    • Perspectives
    • Acknowledgments
    • Glossary Terms
    • References

    Chapter 12. Prostate Cancer

    • Abstract
    • Introduction
    • Germline Genetics of Prostate Cancer
    • Somatic Genetics of Prostate Cancer
    • Epigenetics of Prostate Cancer
    • Genomic Profiling of RNA in Prostate Cancer
    • The Pyramid Model for Personalized Cancer Care
    • Conclusions
    • References

    Chapter 13. Asthma

    • Abstract
    • Introduction
    • Asthma: Basic Pathobiology
    • Predisposition (Genetic and Nongenetic) to Asthma
    • Genome-Wide Association Studies of Asthma
    • Asthma Genomics
    • Pharmacogenetics
    • Genomic Prediction in Asthma
    • Conclusions
    • Acknowledgments
    • References

    Chapter 14. Diabetes

    • Abstract
    • Introduction
    • Epidemiology and Genetics
    • The Search for Genetic Determinants of Type 2 Diabetes
    • Insights Gained from Genetic Studies in Type 2 Diabetes
    • Conclusions and Future Directions
    • References

    Chapter 15. Metabolic Syndrome

    • Abstract
    • Introduction
    • Defining Metabolic Syndrome
    • Pathophysiology of Metabolic Syndrome
    • Heritability of Metabolic Syndrome
    • Monogenic Models of Metabolic Syndrome
    • Genetics of Common Metabolic Syndrome
    • Finding the Missing Heritability
    • The “Thrifty-Gene” Hypothesis
    • Clinical Implications to Genetic Findings in Metabolic Syndrome
    • Conclusion
    • Acknowledgments
    • Glossary Terms
    • References

    Chapter 16. Autism Spectrum Disorder

    • Abstract
    • Introduction
    • Clinical Overview
    • The Complex Genetics of ASD
    • Genomics and Diagnosis in ASD
    • Conclusion
    • References

    Chapter 17. Viral Hepatitis

    • Abstract
    • Abbreviations
    • Introduction
    • The Hepatitis Viruses
    • Genetic Predisposition to Viral Hepatitis
    • Acute Viral Hepatitis
    • Factors Affecting the Postexposure Clinical Outcome of Hepatitis Infection
    • Chronic Hepatitis
    • Factors Affecting Liver Disease Progression
    • Hepatitis Virus–Associated HCC
    • Treatment of Hepatitis Virus Infection
    • Future Impact of Genomics and Personalized Medicine
    • Conclusion
    • References

Product details

  • No. of pages: 370
  • Language: English
  • Copyright: © Academic Press 2017
  • Published: March 23, 2017
  • Imprint: Academic Press
  • Hardcover ISBN: 9780128006856
  • eBook ISBN: 9780128006542

About the Editors

Geoffrey Ginsburg

Dr. Ginsburg is the founding Director of the Center for Applied Genomics & Precision Medicine in the Duke Institute for Genome Sciences & Policy. He is also Professor of Medicine and of Pathology at Duke University Medical Center, Professor of Biomedical Engineering at Duke Pratt School of Engineering, and Co-Director of the Duke Translational Medicine Institute.

Affiliations and Expertise

Duke Center for Applied Genomics and Precision Medicine, Duke University School of Medicine, Durham, NC, USA

Huntington Willard

Huntington Willard is on the faculty of the Department of Human Genetics at the University of Chicago. Prior to this appointment, Willard was the President and Director of the Marine Biological Laboratory and Professor of Human Genetics at the University of Chicago. He was previously on the faculty at Duke University, where he was founding director of the university-wide Duke Institute for Genome Sciences & Policy from 2003 to 2014, the Nanaline H. Duke Professor of Genome Sciences, and the Arts & Sciences Professor of Biology & Genome Sciences.

Affiliations and Expertise

Director and Principal, Geisinger National Precision Health, North Bethesda, Maryland, USA

Sean David

Dr. David is a family doctor and physician scientist interested in translational research to improve preventive health and public health strategies to improve population health.

Affiliations and Expertise

Associate Professor of Medicine, Division of General Medical Disciplines, Stanford University School of Medicine, Palo Alto, CA, USA