Advances in genomics are expected to play a central role in medicine and public health in the future by providing a genetic basis for disease prediction and prevention. The transplantation of human gene discoveries into meaningful actions to improve health and prevent disease depends on scientific information from multiple disciplines, including epidemiology. This book describes the important role that epidemiologic methods play in the continuum from gene discovery to the development and application of genetic tests. It proceeds systematically from the fundamentals of genome technology and gene discovery, to epidemiologic approaches to gene characterization in the population, to the evaluation of genetic tests and their use in health services. These methodologic approaches are then illustrated with several disease-specific case studies.

Table of Contents

PART I: FUNDAMENTALS; 1. Human Genome Epidemiology: Scope and Strategies; 2. Emerging Genomic Technologies and Analytic Methods for Population- and Clinic-Based Research; 3. Approaches to Quantify the Genetic Component of and Identify Genes for Complex Traits; 4. Ethical, Legal and Social Issues in the Design and Conduct of Human Genome Epidemiology Studies; PART II: METHODS AND APPROACHES I: ASSESSING DISEASE ASSOCIATIONS AND INTERACTIONS; 5. Assessing Genotypes in Human Genome Epidemiology Studies; 6. Statistical Issues in the Design and Analysis of Gene-Disease Association Studies; 7. Facing the Challenge of Complex Genotypes and Gene-Environment Interaction: The Basic Epidemiologic Units in Case-Control and Case-Only Designs; 8. Inference Issues in Cohort and Case-Control Studies of Genetic Effects and Gene-Environment Interactions; 9. Applications of Human Genome Epidemiology to Environmental Health; 10. Reporting and Review of Human Genome Epidemiology Studies; PART III: METHODS AND APPROACHES II: ASSESSING GENETIC TESTS FOR DISEASE PREVENTION; 11. Epidemiologic Approach to Genetic Tests: Population-Based Data for Preventive Medicine; 12. Genetic Tests in Populations: An Evidence Based Approach; 13. ACCE: A Model Process for Evaluating Data on Emerging Genetic Tests; 14. The Interface Between Epidemiology and Pharmacogenetics; 15. Integrating Genetics Into Randomized Controlled Trials; 16. Developing Guidelines for the Clinical Use of Genetic Tests: A US Perspective; 17. Using Human Genome Epidemiologic Evidence in Developing Genetics Services: The UK Experience; PART IV: CASE STUDIES: USING HUMAN GENOME EPIDEMIOLOGY INFORMATION TO IMPROVE HEALTH; 18. Paraoxonase Polymorphisms and Susceptibility to Organophosphate Pesticides; 19. Factor V Leiden, Oral Contraceptives, and Deep Vein Thrombosis; 20. Methylenetetrahydrofolate Reductase Gene (MTHFR), Folate, and Colorectal Neoplasia; 21. Apolipoprotein E and Alzheimer Disease; 22. Immunogenetic Factors in Chronic Beryllium Disease; 23. Fragile X Syndrome: From Gene Identification to Clinical Diagnosis and Population Screening; 24. The Connexin Connection: From Epidemiology to Criminal Practice; 25. Genetic and Environmental Factors in Cardiovascular Disease; 26. BRCA1/2 and the Prevention of Breast Cancer; 27. The Role of Chemokine and Chemokine Receptor Genes in HIV-1 Infection; 28. Hereditary Hemochromatosis; 29. Genetic Testing of Railroad Track Workers with Carpal Tunnel Syndrome