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.

PART I: Fundamentals of human genome epidemiology revisited1. Human genome epidemiology: The road map revisitedMuin J. Khoury, Sara R. Bedrosian, Marta L. Gwinn, Julian P. T. Higgins, John P. A. Ioannidis, and Julian Little2. Principles of analysis of germline geneticsJesus Gonzalez-Bosquet and Stephen Chanock3. The public health genomics enterprisePhilippa Brice and Ron Zimmern4. Navigating the evolving knowledge of human genetic variation in health and diseaseMarta L. Gwinn and Wei YuPART II: Methods and approaches for data collection, analysis and integration5. The global emergence of epidemiological biobanks: Opportunities and challengesPaul Burton, Isabel Fortier, and Bartha Knoppers6. Case-control and cohort studies in the age of genome-wide associationsTeri Manolio7. The emergence of networks in human genome epidemiology: Challenges and opportunitiesDaniela Seminara, Muin J. Khoury, Thomas R. O'Brien, Teri Manolio, Marta L. Gwinn, Julian Little, Julian P. T. Higgins, Jonine L. Bernstein, Paolo Boffetta, Melissa Bondy, Molly S. Bray, Paul E. Brenchley, Patricia A. Buf?er, Juan Pablo Casas, Anand P. Chokkalingam, John Danesh, George Davey Smith, Siobhan Dolan, Ross Duncan, Nelleke A. Gruis, Mia Hashibe, David Hunter, Marjo-Riitta Jarvelin, Beatrice Malmer, Demetrius M. Maraganore, Julia A. Newton-Bishop, Elio Riboli, Georgia Salanti, Emanuela Taioli, Nic Timpson, Andr? G. Uitterlinden, Paolo Vineis, Nick Wareham, Deborah M. Winn, Ron Zimmern, and John P. A. Ioannidis8. Design and analysis issues in genome-wide association studiesDuncan Thomas9. The challenge of assessing complex gene-gene and gene-environment interactionsPeter Kraft and David Hunter10. STrengthening the REporting of Genetic Association Studies (STREGA) - An extension of the STROBE statementJulian Little, Julian P.T. Higgins, John P.A. Ioannidis, David Moher, France Gagnon, Erik von Elm, Muin J. Khoury, Barbara Cohen, George Davey-Smith, Jeremy Grimshaw, Paul Scheet, Marta Gwinn, Robin E. Williamson, Guang Yong Zou, Kim Hutchings, Candice Y. Johnson, Valerie Tait, Miriam Wiens, Jean Golding, Cornelia van Duijn, John McLaughlin, Andrew Paterson, George Wells, Isabel Fortier, Matthew Freedman, Maja Zecevic, Richard King, Claire Infante-Rivard, Alex Stewart, and Nick Birkett11. Integration of the evidence on gene-disease associations: Methods of HuGE reviewsJulian P.T. Higgins and Julian Little12. Genome-wide association studies, field synopses and the development of the knowledge base on genetic variation and human diseaseMuin J. Khoury, Lars Bertram, Paolo Boffetta, Adam S.Butterworth, Stephen J. Chanock, Siobhan M. Dolan, Isabel Fortier, Montserrat Garcia-Closas, Marta L. Gwinn, Julian P. T. Higgins, A. Cecile J.W. Janssens, James Ostell, Ryan P. Owen, Roberta A. Pagon, Timothy R. Rebbeck, Nathaniel Rothman, Jonine L. Bernstein , Paul R. Burton, Harry Campbell, Anand P. Chokkalingam, Helena Furberg, Julian Little, Thomas R. O'Brien, Daniela Seminara, Paolo Vineis, Deborah M. Winn, Wei Yu, and John P.A. IoannidisPART III: Case studies: Cumulative assessment of the role of human genome variation in specific diseases13. Colorectal cancerHarry Campbell, Steven Hawken, Evropi Theodoratou, Alex Demarsh, Kimberley Hutchings, Candice Y. Johnson, Lindsey Masson, Linda Sharp, Valerie Tait, Julian Little14. Childhood leukemiasAnand P. Chokkalingam and Patricia A. Buffler15. Bladder cancerJonine D. Figueroa, Montserrat Garcia-Closas, and Nathanial Rothman16. Type 2 diabetesMark McCarthy and Eleftheria Zeggini17. OsteoporosisAndr? G. Uitterlinden, Joyce B.J. van Meurs, and Fernando Rivadeneira18. Preterm birthSiobhan M. Dolan19. Coronary heart diseaseAdam S. Butterworth, Julian P.T. Higgins, Nadeem Sarwar, and John Danesh20. SchizophreniaLars BertramPART IV: Applications of epidemiologic methods for using genetic information in medicine and public health21. Mendelian randomization: The contribution to genetic epidemiology to elucidating environmentally modifiable causes of diseaseGeorge Davey-Smith and Shah Ebrahim22. Evaluation of predictive genetic tests for common diseases: Bridging epidemiological, clinical and public health measuresA. Cecile J. W. Janssens, Marta Gwinn, and Muin J. Khoury23. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: Methods of the EGAPP working groupSteven M. Teutsch, Linda A. Bradley, Glenn E. Palomaki, James E. Haddow, Margaret Piper, Ned Calonge, W. David Dotson, Michael P. Douglas, and Alfred O. Berg24. Rapid evidence-based reviews of genetic testsJim M. Gudgeon, Glenn E. Palomaki, and Marc S. Williams25. Role of social and behavioral research in assessing the utility of genetic informationSaskia C. Sanderson , Christopher Wade, and Colleen M. McBride26. Assessing the evidence for clinical utility in newborn screeningScott Grosse27. The role of epidemiology in assessing the potential clinical impact of pharmacogenomicsDavid L. Veenstra28. The human epigenome and cancerMukesh Verma29. The use of family history in public health practice: the epidemiologic viewRodolfo Valdez, Muin J. Khoury, and Paula W. YoonPART V: Case studies: Assessing the use of genetic information in practice for specific diseases30. Cytochrome P450 testing in the treatment of depressionIris Grossman, Mugdha Thakur, and David B. Matchar31. 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 bleedingMonica R. McClain , Glenn E. Palomaki, Margaret Piper, and James E. Haddow32. Hereditary hemochromatosis: Population screening for gene mutationsDiana B. Petitti