Human Genome Epidemiology, 2nd Edition : Building the Evidence for Using Genetic Information to Improve Health and Prevent Disease

The first edition of Human Genome Epidemiology , published in 2004, discussed how the epidemiologic approach provides an important scientific foundation for studying the continuum from gene discovery to the development, applications and evaluation of human genome information in improving health and preventing disease. Since that time, advances in human genomics have continued to occur at a breathtaking pace. With contributions from leaders in the field from around the world, this new edition is a fully updated look at the ways in which genetic factors in common diseases are studied. Methodologic developments in collection, analysis and synthesis of data, as well as issues surrounding specific applications of human genomic information for medicine and public health are all discussed. In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention. Students, clinicians, public health professionals and policy makers will find the book a useful tool for understanding the rapidly evolving methods of the discovery and use of genetic information in medicine and public health in the 21st century. Contents......Page 12 Contributors......Page 16 PART I: Fundamentals of Human Genome Epidemiology Revisited......Page 26 1. Human Genome Epidemiology: The Road Map Revisited......Page 28 2. Principles of Analysis of Germline Genetics......Page 38 3. The Public Health Genomics Enterprise......Page 61 4. Navigating the Evolving Knowledge of Human Genetic Variation in Health and Disease......Page 88 PART II: Methods and Approaches for Data Collection, Analysis, and Integration......Page 100 5. The Global Emergence of Epidemiological Biobanks: Opportunities and Challenges......Page 102 6. Case-Control and Cohort Studies in the Age of Genome-wide Associations......Page 125 7. The Emergence of Networks in Human Genome Epidemiology: Challenges and Opportunities......Page 145 8. Design and Analysis Issues in Genome-wide Association Studies......Page 161 9. The Challenge of Assessing Complex Gene–Environment and Gene–Gene Interactions......Page 190 10. STrengthening the REporting of Genetic Association Studies (STREGA)—an Extension of the STROBE Statement......Page 213 11. Integration of the Evidence on Gene-Disease Associations: Methods of HuGE Reviews......Page 240 12. Genome-wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases......Page 252 PART III: Case Studies: Cumulative Assessment of the Role of Human Genome Variation in Specific Diseases......Page 272 13. Colorectal Cancer......Page 274 14. Childhood Leukemias......Page 303 15. Bladder Cancer......Page 324 16. Type 2 Diabetes......Page 351 17. Osteoporosis......Page 362 18. Preterm Birth......Page 382 19. Coronary Heart Disease......Page 394 20. Schizophrenia......Page 415 PART IV: Applications of Epidemiologic Methods for Using Genetic Information in Medicine and Public Health......Page 430 21. Mendelian Randomization: The Contribution of Genetic Epidemiology to Elucidating Environmentally Modifiable Causes of Disease......Page 432 22. Evaluation of Predictive Genetic Tests for Common Diseases: Bridging Epidemiological, Clinical, and Public Health Measures......Page 470 23. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: Methods of the EGAPP Working Group......Page 483 24. Rapid, Evidence-based Reviews of Genetic Tests......Page 507 25. Role of Social and Behavioral Research in Assessing the Utility of Genetic Information......Page 522 26. Assessing the Evidence for Clinical Utility in Newborn Screening......Page 542 27. The Role of Epidemiology in Assessing the Potential Clinical Impact of Pharmacogenomics......Page 558 28. The Human Epigenome and Cancer......Page 576 29. The Use of Family History in Public Health Practice: The Epidemiologic View......Page 604 PART V: Case Studies: Assessing the Use of Genetic Information in Practice for Specific Diseases......Page 620 30. Cytochrome P450 Testing in the Treatment of Depression......Page 622 31. A Rapid-ACCE Review of CYP2C9 and VKORC1 Allele Testing to Inform Warfarin Dosing in Adults at Elevated Risk for Thrombotic Events to Avoid Serious Bleeding......Page 645 32. Hereditary Hemochromatosis: Population Screening for Gene Mutations......Page 664 A......Page 682 B......Page 683 C......Page 684 E......Page 688 F......Page 689 G......Page 690 H......Page 692 I......Page 693 M......Page 694 N......Page 696 P......Page 697 R......Page 698 S......Page 699 T......Page 700 Z......Page 701 The First Edition Was Published In 2004, Discussed How The Epidemiologic Approach Provides An Important Scientific Foundation For Studying The Continuum From Gene Discovery To The Development, Applications And Evaluation Of Human Genome Information In Improving Health And Preventing Disease. Since That Time, Advances In Human Genomics Have Continued To Occur At A Breathtaking Pace. With Contributions From Leaders In The Field From Around The World, This New Edition Is A Fully Updated Look At The Ways In Which Genetic Factors In Common Diseases Are Studied. Methodologic Developments In Collection, Analysis And Synthesis Of Data, As Well As Issues Surrounding Specific Applications Of Human Genomic Information For Medicine And Public Health Are All Discussed. In Addition, The Book Focuses On Practical Applications Of Human Genome Variation In Clinical Practice And Disease Prevention. Students, Clinicians, Public Health Professionals And Policy Makers Will Find The Book A Useful Tool For Understanding The Rapidly Evolving Methods Of The Discovery And Use Of Genetic Information In Medicine And Public Health In The 21st Century. Human Genome Epidemiology: The Road Map Revisited -- Principles Of Analysis Of Germline Genetics -- The Public Health Genomics Enterprise -- Navigating The Evolving Knowledge Of Human Genetic Variation In Health And Disease -- The Global Emergence Of Epidemiological Biobanks: Opportunities And Challenges -- Case-control And Cohort Studies In The Age Of Genome-wide Associations -- The Emergence Of Networks In Human Genome Epidemiology: Challenges And Opportunities -- Design And Analysis Issues In Genome-wide Association Studies -- The Challenge Of Assessing Complex Gene-environment And Gene-gene Interactions -- Strengthening The Reporting Of Genetic Association Studies (strega)-an Extension Of The Strobe Statement -- Integration Of The Evidence On Gene-disease Associations: Methods Of Huge Reviews -- Genome-wide Association Studies, Field Synopses, And The Development Of The Knowledge Base On Genetic Variation And Human Diseases -- Colorectal Cancer -- Childhood Leukemias -- Bladder Cancer -- Type 2 Diabetes -- Osteoporosis -- Preterm Birth -- Coronary Heart Disease -- Schizophrenia -- Mendelian Randomization: The Contribution Of Genetic Epidemiology To Elucidating Environmentally Modifiable Causes Of Disease -- Evaluation Of Predictive Genetic Tests For Common Diseases: Bridging Epidemiological, Clinical, And Public Health Measures -- The Evaluation Of Genomic Applications In Practice And Prevention (egapp) Initiative: Methods Of The Egapp Working Group -- Rapid, Evidence-based Reviews Of Genetic Tests -- Role Of Social And Behavioral Research In Assessing The Utility Of Genetic Information -- Assessing The Evidence For Clinical Utility In Newborn Screening -- The Role Of Epidemiology In Assessing The Potential Clinical Impact Of Pharmacogenomics -- The Human Epigenome And Cancer -- The Use Of Family History In Public Health Practice: The Epidemiologic View -- Cytochrome P450 Testing In The Treatment Of Depression -- A Rapid-acce Review Of Cyp2cp And Vkorc1 Allele Testing To Inform Warfarin Dosing In Adults At Elevated Risk For Thrombotic Events To Avoid Serious Bleeding -- Hereditary Hemochromatosis: Population Screening For Gene Mutations. Edited By Muin J. Khoury ... [et Al.]. Includes Bibliographical References And Index. Contents 12 Contributors 16 PART I: Fundamentals of Human Genome Epidemiology Revisited 26 1. Human Genome Epidemiology: The Road Map Revisited 28 2. Principles of Analysis of Germline Genetics 38 3. The Public Health Genomics Enterprise 61 4. Navigating the Evolving Knowledge of Human Genetic Variation in Health and Disease 88 PART II: Methods and Approaches for Data Collection, Analysis, and Integration 100 5. The Global Emergence of Epidemiological Biobanks: Opportunities and Challenges 102 6. Case-Control and Cohort Studies in the Age of Genome-wide Associations 125 7. The Emergence of Networks in Human Genome Epidemiology: Challenges and Opportunities 145 8. Design and Analysis Issues in Genome-wide Association Studies 161 9. The Challenge of Assessing Complex Gene–Environment and Gene–Gene Interactions 190 10. STrengthening the REporting of Genetic Association Studies (STREGA)—an Extension of the STROBE Statement 213 11. Integration of the Evidence on Gene-Disease Associations: Methods of HuGE Reviews 240 12. Genome-wide Association Studies, Field Synopses, and the Development of the Knowledge Base on Genetic Variation and Human Diseases 252 PART III: Case Studies: Cumulative Assessment of the Role of Human Genome Variation in Specific Diseases 272 13. Colorectal Cancer 274 14. Childhood Leukemias 303 15. Bladder Cancer 324 16. Type 2 Diabetes 351 17. Osteoporosis 362 18. Preterm Birth 382 19. Coronary Heart Disease 394 20. Schizophrenia 415 PART IV: Applications of Epidemiologic Methods for Using Genetic Information in Medicine and Public Health 430 21. Mendelian Randomization: The Contribution of Genetic Epidemiology to Elucidating Environmentally Modifiable Causes of Disease 432 22. Evaluation of Predictive Genetic Tests for Common Diseases: Bridging Epidemiological, Clinical, and Public Health Measures 470 23. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) Initiative: Methods of the EGAPP Working Group 483 24. Rapid, Evidence-based Reviews of Genetic Tests 507 25. Role of Social and Behavioral Research in Assessing the Utility of Genetic Information 522 26. Assessing the Evidence for Clinical Utility in Newborn Screening 542 27. The Role of Epidemiology in Assessing the Potential Clinical Impact of Pharmacogenomics 558 28. The Human Epigenome and Cancer 576 29. The Use of Family History in Public Health Practice: The Epidemiologic View 604 PART V: Case Studies: Assessing the Use of Genetic Information in Practice for Specific Diseases 620 30. Cytochrome P450 Testing in the Treatment of Depression 622 31. A Rapid-ACCE Review of CYP2C9 and VKORC1 Allele Testing to Inform Warfarin Dosing in Adults at Elevated Risk for Thrombotic Events to Avoid Serious Bleeding 645 32. Hereditary Hemochromatosis: Population Screening for Gene Mutations 664 Index 682 A 682 B 683 C 684 D 688 E 688 F 689 G 690 H 692 I 693 J 694 K 694 L 694 M 694 N 696 O 697 P 697 Q 698 R 698 S 699 T 700 U 701 V 701 W 701 X 701 Z 701 This text describes the role that epidemiologic methods play in the continuum from gene discovery to the development and application of genetic tests. It provides a foundation that should help researchers, policy makers and practitioners integrate genomics into medical and public health practice