Public Health Genomics: The Essentials (J-B Public Health Health Services Text)

The Centers for Disease Control (CDC) has recognized genomics as a priority area in public health education. To help public health students and professionals achieve proficiency in the language of genetics and attain genomics competencies delineated by the CDC, this book offers an introduction to basic molecular genetics and discusses the relevance of genomics to such key public health issues as environmental health, ethnic health disparities, health policy and law, research ethics, maternal and child health, clinical preventive medicine, health behavior, health economics, and communicable disease control. Presented in a context that is easy to understand, the book serves as an accessible portal of entry into the world of public health genomics. PUBLIC HEALTH GENOMICS: The Essentials 5 CONTENTS 7 TABLES AND FIGURES 13 FOREWORD 17 PREFACE 19 THE AUTHORS 21 INTRODUCTION 23 Part I: SCIENTIFIC AND SOCIAL PERSPECTIVES ON GENOMICS 27 Chapter 1: PAST, PRESENT, AND FUTURE OF PUBLIC HEALTH GENOMICS 29 LEARNING OBJECTIVES 29 INTRODUCTION 30 HISTORY OF HUMAN GENETICS 30 HISTORY OF PUBLIC HEALTH GENETICS 31 IMPACT OF GENETICS ON PRIMARY, SECONDARY, AND TERTIARY PREVENTION 31 PHENOTYPIC VERSUS GENOTYPIC PREVENTION 34 GENOMICS TODAY 35 GENOMICS TOMORROW 38 CHAPTER SUMMARY AND PREVIEW 38 KEY TERMS, NAMES, AND CONCEPTS 40 ANALYSIS, REVIEW, AND DISCUSSION 40 Chapter 2: GENOMICS AND GOVERNMENT 41 LEARNING OBJECTIVES 41 INTRODUCTION 42 THE NIH AND THE NHGRI 42 THE NOPHG 45 THE SACGHS 47 STATE GOVERNMENT PROGRAMS 48 GENOMICS AND BIOTERRORISM PREPAREDNESS 50 CHAPTER SUMMARY AND PREVIEW 51 KEY TERMS, NAMES, AND CONCEPTS 52 ANALYSIS, REVIEW, AND DISCUSSION 52 Chapter 3: BASIC MOLECULAR GENETICS 53 LEARNING OBJECTIVES 53 INTRODUCTION 54 HEREDITARY MATERIAL 54 DNA REPLICATION 56 TRANSCRIPTION AND TRANSLATION 59 GENE EXPRESSION 63 MUTATIONS AND POLYMORPHISMS 64 CHAPTER SUMMARY AND PREVIEW 65 KEY TERMS, NAMES, AND CONCEPTS 65 ANALYSIS, REVIEW, AND DISCUSSION 66 Chapter 4: MUTATIONS, POPULATION GENETICS, AND ETHNICITY 67 LEARNING OBJECTIVES 67 INTRODUCTION 68 SOMATIC VERSUS GERMLINE MUTATIONS 68 TYPES OF MUTATIONS 69 CAUSES OF MUTATIONS 70 POPULATION GENETICS 71 RACE, ETHNICITY, AND GENOMICS 76 CHAPTER SUMMARY AND PREVIEW 77 KEY TERMS, NAMES, AND CONCEPTS 77 ANALYSIS, REVIEW, AND DISCUSSION 78 Chapter 5: INHERITANCE PATTERNS AND FAMILY HISTORY 79 LEARNING OBJECTIVES 79 INTRODUCTION 80 GREGOR MENDEL AND HIS PEA PLANTS 80 AUTOSOMES AND SEX CHROMOSOMES 82 DRAWING A PEDIGREE 83 NON-MENDELIAN INHERITANCE PATTERNS 87 INHERITANCE PATTERNS, FAMILY HISTORY, AND PUBLIC HEALTH 91 CHAPTER SUMMARY AND PREVIEW 95 KEY TERMS, NAMES, AND CONCEPTS 95 ANALYSIS, REVIEW, AND DISCUSSION 96 Chapter 6: GENETIC EPIDEMIOLOGY AND GENE-ENVIRONMENT INTERACTIONS 97 LEARNING OBJECTIVES 97 INTRODUCTION 98 REVIEW OF BASIC CONCEPTS 98 POLYGENIC AND MULTIFACTORIAL TRAITS 98 DETERMINING THE RISK OF MULTIFACTORIAL DISORDERS 100 DETERMINING GENETIC VERSUS ENVIRONMENTAL EFFECTS 101 DETERMINING PATTERNS OF INHERITANCE AND LOCALIZING GENES 102 GENE-ENVIRONMENT INTERACTIONS AND MOLECULAR EPIDEMIOLOGY 105 CHAPTER SUMMARY AND PREVIEW 107 KEY TERMS, NAMES, AND CONCEPTS 107 ANALYSIS, REVIEW, AND DISCUSSION 107 Chapter 7: GENETIC INFORMATION, ETHICS, AND THE LAW 109 LEARNING OBJECTIVES 109 INTRODUCTION 110 EXAMPLES OF GENETIC DISCRIMINATION AND BREACH OF PRIVACY 110 EVOLUTION OF PRIVACY AND ANTIDISCRIMINATION LAWS 111 GENETICS RESEARCH AND CONCERN FOR PRIVACY 114 CLINICAL GENETIC TESTING AND THE DUTY TO INFORM 116 CHAPTER SUMMARY AND PREVIEW 118 KEY TERMS, NAMES, AND CONCEPTS 118 ANALYSIS, REVIEW, AND DISCUSSION 119 Part II: GENOMICS IN MATERNAL, CHILD, AND ADULT HEALTH 121 Chapter 8: TOXICOLOGY, TERATOLOGY, AND PRENATAL DIAGNOSIS 123 LEARNING OBJECTIVES 123 INTRODUCTION 124 BIRTH DEFECTS AND EMBRYOLOGY 124 CHROMOSOMES 129 PRENATAL DIAGNOSIS 137 PREIMPLANTATION GENETIC DIAGNOSIS 139 CHAPTER SUMMARY AND PREVIEW 140 KEY TERMS, NAMES, AND CONCEPTS 140 ANALYSIS, REVIEW, AND DISCUSSION 141 Chapter 9: PRECONCEPTIONAL GENETIC SCREENING AND CULTURAL COMPETENCE 143 LEARNING OBJECTIVES 143 INTRODUCTION 144 GENETIC DISEASES COMMON AMONG PEOPLE OF ASHKENAZIC JEWISH DESCENT 144 GENETIC DISEASES COMMON AMONG PEOPLE OF SEPHARDIC AND MIZRAHI JEWISH DESCENT 148 REPRODUCTIVE OPTIONS FOR CARRIERS 149 LIMITATIONS OF ETHNICALLY BASED GENETIC SCREENING 149 CHAPTER SUMMARY AND PREVIEW 150 KEY TERMS, NAMES, AND CONCEPTS 150 ANALYSIS, REVIEW, AND DISCUSSION 151 Chapter 10: METABOLIC DISORDERS AND NEWBORN SCREENING 153 LEARNING OBJECTIVES 153 INTRODUCTION 154 NEWBORN SCREENING’S RELEVANCE TO PUBLIC HEALTH 154 BIOLOGY OF METABOLIC DISORDERS 157 NEWBORN SCREENING IN CALIFORNIA 158 MS/MS-DETECTABLE DISORDERS 161 CHAPTER SUMMARY AND PREVIEW 164 KEY TERMS, NAMES, AND CONCEPTS 165 ANALYSIS, REVIEW, AND DISCUSSION 165 Chapter 11: PEDIATRIC GENETICS AND HEALTH SUPERVISION 167 LEARNING OBJECTIVES 167 INTRODUCTION 168 AMERICAN ACADEMY OF PEDIATRICS 168 ACHONDROPLASIA 169 DOWN SYNDROME 171 FRAGILE X SYNDROME 172 MARFAN SYNDROME 174 PRADER-WILLI SYNDROME 174 AUTISM 175 CHAPTER SUMMARY AND PREVIEW 177 KEY TERMS, NAMES, AND CONCEPTS 177 ANALYSIS, REVIEW, AND DISCUSSION 177 Chapter 12: ADULT GENETICS, GENETIC COUNSELING, AND HEALTH BEHAVIOR 179 LEARNING OBJECTIVES 179 INTRODUCTION 180 ALZHEIMER’S DISEASE 180 CARDIOVASCULAR DISEASE 181 CANCER 183 FAMILIAL CANCER SYNDROMES 186 GENETIC TESTING, RISK PERCEPTION, AND HEALTH BEHAVIOR 189 CHAPTER SUMMARY AND PREVIEW 191 KEY TERMS, NAMES, AND CONCEPTS 191 ANALYSIS, REVIEW, AND DISCUSSION 193 Part III: AREAS OF GENERAL INTEREST 195 Chapter 13: HEALTH ECONOMICS, HEALTH DISPARITIES, AND GENETIC SERVICES 197 LEARNING OBJECTIVES 197 INTRODUCTION 198 BASICS OF HEALTH ECONOMICS 198 HEALTH ECONOMICS OF GENETIC SCREENING 200 HEALTH CARE DISPARITIES 201 CHAPTER SUMMARY AND PREVIEW 206 ANALYSIS, REVIEW, AND DISCUSSION 206 KEY TERMS, NAMES, AND CONCEPTS 206 Chapter 14: GENOMICS AND COMMUNICABLE DISEASE CONTROL 207 LEARNING OBJECTIVES 207 INTRODUCTION 208 BACTERIA 208 VIRUSES 215 GENOMICS OF A PANDEMIC 218 CHAPTER SUMMARY AND PREVIEW 219 KEY TERMS, NAMES, AND CONCEPTS 220 ANALYSIS, REVIEW, AND DISCUSSION 220 Chapter 15: HOT TOPICS IN GENOMICS 221 LEARNING OBJECTIVES 221 INTRODUCTION 222 PERSONALIZED MEDICINE 222 GENE THERAPY 225 STEM CELL RESEARCH 227 CHAPTER SUMMARY AND PREVIEW 229 KEY TERMS, NAMES, AND CONCEPTS 229 ANALYSIS, REVIEW, AND DISCUSSION 229 Chapter 16: BIOINFORMATICS AND GENOMICS ONLINE 231 LEARNING OBJECTIVES 231 INTRODUCTION 232 CLINICAL AND COMMUNITY RESOURCES 232 ETHICAL, LEGAL, AND SOCIAL ISSUES 233 GENETIC EPIDEMIOLOGY 234 GOVERNMENT AGENCIES 235 MATERNAL AND CHILD HEALTH 235 PROFESSIONAL GENETICS EDUCATION 236 PROFESSIONAL GENETICS SOCIETIES 237 PROFESSIONAL PUBLIC HEALTH SOCIETIES 237 RESEARCH RESOURCES 238 REVIEW, ANALYSIS, AND DISCUSSION 239 Appendix 1: ANSWERS TO SELECTED DISCUSSION QUESTIONS 241 GLOSSARY 245 REFERENCES 267 NAME INDEX 279 SUBJECT INDEX 283 PUBLIC HEALTH GENOMICS: The Essentials......Page 5 CONTENTS......Page 7 TABLES AND FIGURES......Page 13 FOREWORD......Page 17 PREFACE......Page 19 THE AUTHORS......Page 21 INTRODUCTION......Page 23 Part I: SCIENTIFIC AND SOCIAL PERSPECTIVES ON GENOMICS......Page 27 LEARNING OBJECTIVES......Page 29 HISTORY OF HUMAN GENETICS......Page 30 IMPACT OF GENETICS ON PRIMARY, SECONDARY, AND TERTIARY PREVENTION......Page 31 PHENOTYPIC VERSUS GENOTYPIC PREVENTION......Page 34 GENOMICS TODAY......Page 35 CHAPTER SUMMARY AND PREVIEW......Page 38 ANALYSIS, REVIEW, AND DISCUSSION......Page 40 LEARNING OBJECTIVES......Page 41 THE NIH AND THE NHGRI......Page 42 THE NOPHG......Page 45 THE SACGHS......Page 47 STATE GOVERNMENT PROGRAMS......Page 48 GENOMICS AND BIOTERRORISM PREPAREDNESS......Page 50 CHAPTER SUMMARY AND PREVIEW......Page 51 ANALYSIS, REVIEW, AND DISCUSSION......Page 52 LEARNING OBJECTIVES......Page 53 HEREDITARY MATERIAL......Page 54 DNA REPLICATION......Page 56 TRANSCRIPTION AND TRANSLATION......Page 59 GENE EXPRESSION......Page 63 MUTATIONS AND POLYMORPHISMS......Page 64 KEY TERMS, NAMES, AND CONCEPTS......Page 65 ANALYSIS, REVIEW, AND DISCUSSION......Page 66 LEARNING OBJECTIVES......Page 67 SOMATIC VERSUS GERMLINE MUTATIONS......Page 68 TYPES OF MUTATIONS......Page 69 CAUSES OF MUTATIONS......Page 70 POPULATION GENETICS......Page 71 RACE, ETHNICITY, AND GENOMICS......Page 76 KEY TERMS, NAMES, AND CONCEPTS......Page 77 ANALYSIS, REVIEW, AND DISCUSSION......Page 78 LEARNING OBJECTIVES......Page 79 GREGOR MENDEL AND HIS PEA PLANTS......Page 80 AUTOSOMES AND SEX CHROMOSOMES......Page 82 DRAWING A PEDIGREE......Page 83 NON-MENDELIAN INHERITANCE PATTERNS......Page 87 INHERITANCE PATTERNS, FAMILY HISTORY, AND PUBLIC HEALTH......Page 91 KEY TERMS, NAMES, AND CONCEPTS......Page 95 ANALYSIS, REVIEW, AND DISCUSSION......Page 96 LEARNING OBJECTIVES......Page 97 POLYGENIC AND MULTIFACTORIAL TRAITS......Page 98 DETERMINING THE RISK OF MULTIFACTORIAL DISORDERS......Page 100 DETERMINING GENETIC VERSUS ENVIRONMENTAL EFFECTS......Page 101 DETERMINING PATTERNS OF INHERITANCE AND LOCALIZING GENES......Page 102 GENE-ENVIRONMENT INTERACTIONS AND MOLECULAR EPIDEMIOLOGY......Page 105 ANALYSIS, REVIEW, AND DISCUSSION......Page 107 LEARNING OBJECTIVES......Page 109 EXAMPLES OF GENETIC DISCRIMINATION AND BREACH OF PRIVACY......Page 110 EVOLUTION OF PRIVACY AND ANTIDISCRIMINATION LAWS......Page 111 GENETICS RESEARCH AND CONCERN FOR PRIVACY......Page 114 CLINICAL GENETIC TESTING AND THE DUTY TO INFORM......Page 116 KEY TERMS, NAMES, AND CONCEPTS......Page 118 ANALYSIS, REVIEW, AND DISCUSSION......Page 119 Part II: GENOMICS IN MATERNAL, CHILD, AND ADULT HEALTH......Page 121 LEARNING OBJECTIVES......Page 123 BIRTH DEFECTS AND EMBRYOLOGY......Page 124 CHROMOSOMES......Page 129 PRENATAL DIAGNOSIS......Page 137 PREIMPLANTATION GENETIC DIAGNOSIS......Page 139 KEY TERMS, NAMES, AND CONCEPTS......Page 140 ANALYSIS, REVIEW, AND DISCUSSION......Page 141 LEARNING OBJECTIVES......Page 143 GENETIC DISEASES COMMON AMONG PEOPLE OF ASHKENAZIC JEWISH DESCENT......Page 144 GENETIC DISEASES COMMON AMONG PEOPLE OF SEPHARDIC AND MIZRAHI JEWISH DESCENT......Page 148 LIMITATIONS OF ETHNICALLY BASED GENETIC SCREENING......Page 149 KEY TERMS, NAMES, AND CONCEPTS......Page 150 ANALYSIS, REVIEW, AND DISCUSSION......Page 151 LEARNING OBJECTIVES......Page 153 NEWBORN SCREENING’S RELEVANCE TO PUBLIC HEALTH......Page 154 BIOLOGY OF METABOLIC DISORDERS......Page 157 NEWBORN SCREENING IN CALIFORNIA......Page 158 MS/MS-DETECTABLE DISORDERS......Page 161 CHAPTER SUMMARY AND PREVIEW......Page 164 ANALYSIS, REVIEW, AND DISCUSSION......Page 165 LEARNING OBJECTIVES......Page 167 AMERICAN ACADEMY OF PEDIATRICS......Page 168 ACHONDROPLASIA......Page 169 DOWN SYNDROME......Page 171 FRAGILE X SYNDROME......Page 172 PRADER-WILLI SYNDROME......Page 174 AUTISM......Page 175 ANALYSIS, REVIEW, AND DISCUSSION......Page 177 LEARNING OBJECTIVES......Page 179 ALZHEIMER’S DISEASE......Page 180 CARDIOVASCULAR DISEASE......Page 181 CANCER......Page 183 FAMILIAL CANCER SYNDROMES......Page 186 GENETIC TESTING, RISK PERCEPTION, AND HEALTH BEHAVIOR......Page 189 KEY TERMS, NAMES, AND CONCEPTS......Page 191 ANALYSIS, REVIEW, AND DISCUSSION......Page 193 Part III: AREAS OF GENERAL INTEREST......Page 195 LEARNING OBJECTIVES......Page 197 BASICS OF HEALTH ECONOMICS......Page 198 HEALTH ECONOMICS OF GENETIC SCREENING......Page 200 HEALTH CARE DISPARITIES......Page 201 KEY TERMS, NAMES, AND CONCEPTS......Page 206 LEARNING OBJECTIVES......Page 207 BACTERIA......Page 208 VIRUSES......Page 215 GENOMICS OF A PANDEMIC......Page 218 CHAPTER SUMMARY AND PREVIEW......Page 219 ANALYSIS, REVIEW, AND DISCUSSION......Page 220 LEARNING OBJECTIVES......Page 221 PERSONALIZED MEDICINE......Page 222 GENE THERAPY......Page 225 STEM CELL RESEARCH......Page 227 ANALYSIS, REVIEW, AND DISCUSSION......Page 229 LEARNING OBJECTIVES......Page 231 CLINICAL AND COMMUNITY RESOURCES......Page 232 ETHICAL, LEGAL, AND SOCIAL ISSUES......Page 233 GENETIC EPIDEMIOLOGY......Page 234 MATERNAL AND CHILD HEALTH......Page 235 PROFESSIONAL GENETICS EDUCATION......Page 236 PROFESSIONAL PUBLIC HEALTH SOCIETIES......Page 237 RESEARCH RESOURCES......Page 238 REVIEW, ANALYSIS, AND DISCUSSION......Page 239 Appendix 1: ANSWERS TO SELECTED DISCUSSION QUESTIONS......Page 241 GLOSSARY......Page 245 REFERENCES......Page 267 NAME INDEX......Page 279 SUBJECT INDEX......Page 283 This Book Is Beautifully Written For Health Professionals And Students In The Fields Of Public Health, Medicine, And Genetics. Because Of Dr. Mikail's Ability To Explain Complex Concepts Clearly, It Also Effectively Educates The Community-at-large About Core Principles In Genomics, Increasing Awareness In Patients, Families, And Nonprofessionals Alike. Samuel Rahbar, Md, Phd, Professor, Department Of Diabetes And Endocrinology, City Of Hope National Medical Center. Book Cover. Centered Around Cdc Genomics Competencies For Public Health Professionals, Dr. Mikail's Book Provides A Solid Background In The Core Scientific And Social Issues Surrounding Public Health Genomics. As We Strive To Apply Our Understanding Of Genetics Toward Developing More Effective Disease Prediction And Prevention Strategies For Individuals And Populations, Students And Practitioners Will Find This Text An Increasingly Valuable Resource In Daily Practice. R.j. Desnick, Phd, Md, Professor And Chairman, Department Of Genetics And Genomic Sciences, Mount Sinai School Of Medicine, New York University. Book Cover. One Of The First Of Its Kind, This Book Brilliantly Integrates The Previously Disparate Fields Of Genomics And Public Health In A Well-written Introductory Text That Is A Must-read For Students In Public Health, Medicine, And Anyone Interested In The Health Profession. Barbara Nemesure, Phd, Associate Professor, Department Of Preventive Medicine, State University Of New York At Stony Brook. Book Cover. Past, Present, And Future Of Public Health Genomics -- Genomics And Government -- Basic Molecular Genetics -- Mutations, Population Genetics, And Ethnicity -- Inheritance Patterns And Family History -- Genetic Epidemiology And Gene-environment Interactions -- Genetic Information, Ethics, And The Law -- Toxicology, Teratology, And Prenatal Diagnosis -- Preconceptional Genetic Screening And Cultural Competence -- Metabolic Disorders And Newborn Screening -- Pediatric Genetics And Health Supervision -- Adult Genetics, Genetic Counseling, And Health Behavior -- Health Economics, Health Disparities, And Genetic Services -- Genomics And Communicable Disease Control -- Hot Topics In Genomics -- Bioinformatics And Genomics Online. Claudia N. Mikail ; Foreword By Dorothy S. Lane. Includes Bibliographical References (p. 241-251) And Indexes.