Genomic and Precision Medicine
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.
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