Genomic and Precision Medicine

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.

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