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Claudia N. Mikail, MD, MPH, is a clinical assistant professor at the University of Massachusetts at Amherst, School of Public Health and Health Sciences and a clinical instructor at the Keck School of Medicine.
Tables and Figures | p. xi |
Foreword | p. xv |
Preface | p. xvii |
The Authors | p. xix |
Introduction | p. xxi |
Scientific and Social Perspectives on Genomics | |
Past, Present, and Future of Public Health Genomics | p. 3 |
History of Human Genetics | p. 4 |
History of Public Health Genetics | p. 5 |
Impact of Genetics on Primary, Secondary, and Tertiary Prevention | p. 5 |
Phenotypic versus Genotypic Prevention | p. 8 |
Genomics Today | p. 9 |
Genomics Tomorrow | p. 12 |
Genomics and Government | p. 15 |
The NIH and the NHGRI | p. 16 |
The NOPHG | p. 19 |
The SACGHS | p. 21 |
State Government Programs | p. 22 |
Genomics and Bioterrorism Preparedness | p. 24 |
Basic Molecular Genetics | p. 27 |
Hereditary Material | p. 28 |
DNA Replication | p. 30 |
Transcription and Translation | p. 33 |
Gene Expression | p. 37 |
Mutations and Polymorphisms | p. 38 |
Mutations, Population Genetics, and Ethnicity | p. 41 |
Somatic versus Germline Mutations | p. 42 |
Types of Mutations | p. 43 |
Causes of Mutations | p. 44 |
Population Genetics | p. 45 |
Race, Ethnicity, and Genomics | p. 50 |
Inheritance Patterns and Family History | p. 53 |
Gregor Mendel and His Pea Plants | p. 54 |
Autosomes and Sex Chromosomes | p. 56 |
Drawing a Pedigree | p. 57 |
Non-Mendelian Inheritance Patterns | p. 61 |
Inheritance Patterns, Family History, and Public Health | p. 65 |
Genetic Epidemiology and Gene-Environment Interactions | p. 71 |
Review of Basic Concepts | p. 72 |
Polygenic and Multifactorial Traits | p. 72 |
Determining the Risk of Multifactorial Disorders | p. 74 |
Determining Genetic versus Environmental Effects | p. 75 |
Determining Patterns of Inheritance and Localizing Genes | p. 76 |
Gene-Environment Interactions and Molecular Epidemiology | p. 79 |
Genetic Information, Ethics, and The Law | p. 83 |
Examples of Genetic Discrimination and Breach of Privacy | p. 84 |
Evolution of Privacy and Antidiscrimination Laws | p. 85 |
Genetics Research and Concern for Privacy | p. 88 |
Clinical Genetic Testing and the Duty to Inform | p. 90 |
Genomics in Maternal, Child, and Adult Health | |
Toxicology, Teratology, and Prenatal Diagnosis | p. 97 |
Birth Defects and Embryology | p. 98 |
Chromosomes | p. 103 |
Prenatal Diagnosis | p. 111 |
Preimplantation Genetic Diagnosis | p. 113 |
Preconceptional Genetic Screening and Cultural Competence | p. 117 |
Genetic Diseases Common among People of Ashkenazic Jewish Descent | p. 118 |
Genetic Diseases Common among People of Sephardic and Mizrahi Jewish Descent | p. 122 |
Reproductive Options for Carriers | p. 123 |
Limitations of Ethnically Based Genetic Screening | p. 123 |
Metabolic Disorders and Newborn Screening | p. 127 |
Newborn Screening's Relevance to Public Health | p. 128 |
Biology of Metabolic Disorders | p. 131 |
Newborn Screening in California | p. 132 |
MS/MS-Detectable Disorders | p. 135 |
Pediatric Genetics and Health Supervision | p. 141 |
American Academy of Pediatrics | p. 142 |
Achondroplasia | p. 143 |
Down Syndrome | p. 145 |
Fragile X Syndrome | p. 146 |
Marfan Syndrome | p. 148 |
Prader-Willi Syndrome | p. 148 |
Autism | p. 149 |
Adult Genetics, Genetic Counseling, and Health Behavior | p. 153 |
Alzheimer's Disease | p. 154 |
Cardiovascular Disease | p. 155 |
Cancer | p. 157 |
Familial Cancer Syndromes | p. 160 |
Genetic Testing, Risk Perception, and Health Behavior | p. 163 |
Areas of General Interest | |
Health Economics, Health Disparities, and Genetic Services | p. 171 |
Basics of Health Economics | p. 172 |
Health Economics of Genetic Screening | p. 174 |
Health Care Disparities | p. 175 |
Genomics and Communicable Disease Control | p. 181 |
Bacteria | p. 182 |
Viruses | p. 189 |
Genomics of a Pandemic | p. 192 |
Hot Topics in Genomics | p. 195 |
Personalized Medicine | p. 196 |
Gene Therapy | p. 199 |
Stem Cell Research | p. 201 |
Bioinformatics and Genomics Online | p. 205 |
Clinical and Community Resources | p. 206 |
Ethical, Legal, and Social Issues | p. 207 |
Genetic Epidemiology | p. 208 |
Government Agencies | p. 209 |
Maternal and Child Health | p. 209 |
Professional Genetics Education | p. 210 |
Professional Genetics Societies | p. 211 |
Professional Public Health Societies | p. 211 |
Research Resources | p. 212 |
Answers to Selected Discussion Questions | p. 215 |
Glossary | p. 219 |
References | p. 241 |
Name Index | p. 253 |
Subject Index | p. 257 |
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