Human Genome Epidemiology

PART I: Fundamentals of human genome epidemiology revisited 1. Human genome epidemiology: The road map revisited Muin J. Khoury, Sara R. Bedrosian, Marta L. Gwinn, Julian P. T. Higgins, John P. A. Ioannidis, and Julian Little

2. Principles of analysis of germline genetics Jesus Gonzalez-Bosquet and Stephen Chanock

3. The public health genomics enterprise Philippa Brice and Ron Zimmern

4. Navigating the evolving knowledge of human genetic variation in health and disease Marta L. Gwinn and Wei Yu

PART II: Methods and approaches for data collection, analysis and integration 5. The global emergence of epidemiological biobanks: Opportunities and challenges Paul Burton, Isabel Fortier, and Bartha Knoppers

6. Case-control and cohort studies in the age of genome-wide associations Teri Manolio

7. The emergence of networks in human genome epidemiology: Challenges and opportunities Daniela 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, André G. Uitterlinden, Paolo Vineis, Nick Wareham, Deborah M. Winn, Ron Zimmern, and John P. A. Ioannidis

8. Design and analysis issues in genome-wide association studies Duncan Thomas

9. The challenge of assessing complex gene-gene and gene-environment interactions Peter Kraft and David Hunter

10. STrengthening the REporting of Genetic Association Studies (STREGA) - An extension of the STROBE statement Julian 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 Birkett

11. Integration of the evidence on gene-disease associations: Methods of HuGE reviews Julian P.T. Higgins and Julian Little

12. Genome-wide association studies, field synopses and the development of the knowledge base on genetic variation and human disease Muin 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. Ioannidis

PART III: Case studies: Cumulative assessment of the role of human genome variation in specific diseases 13. Colorectal cancer Harry Campbell, Steven Hawken, Evropi Theodoratou, Alex Demarsh, Kimberley Hutchings, Candice Y. Johnson, Lindsey Masson, Linda Sharp, Valerie Tait, Julian Little

14. Childhood leukemias Anand P. Chokkalingam and Patricia A. Buffler

15. Bladder cancer Jonine D. Figueroa, Montserrat Garcia-Closas, and Nathanial Rothman

16. Type 2 diabetes Mark McCarthy and Eleftheria Zeggini

17. Osteoporosis André G. Uitterlinden, Joyce B.J. van Meurs, and Fernando Rivadeneira

18. Preterm birth Siobhan M. Dolan

19. Coronary heart disease Adam S. Butterworth, Julian P.T. Higgins, Nadeem Sarwar, and John Danesh

20. Schizophrenia Lars Bertram

PART IV: Applications of epidemiologic methods for using genetic information in medicine and public health

21. Mendelian randomization: The contribution to genetic epidemiology to elucidating environmentally modifiable causes of disease George Davey-Smith and Shah Ebrahim

22. Evaluation of predictive genetic tests for common diseases: Bridging epidemiological, clinical and public health measures A. Cecile J. W. Janssens, Marta Gwinn, and Muin J. Khoury

23. The Evaluation of Genomic Applications in Practice and Prevention (EGAPP) initiative: Methods of the EGAPP working group Steven M. Teutsch, Linda A. Bradley, Glenn E. Palomaki, James E. Haddow, Margaret Piper, Ned Calonge, W. David Dotson, Michael P. Douglas, and Alfred O. Berg

24. Rapid evidence-based reviews of genetic tests Jim M. Gudgeon, Glenn E. Palomaki, and Marc S. Williams

25. Role of social and behavioral research in assessing the utility of genetic information Saskia C. Sanderson , Christopher Wade, and Colleen M. McBride

26. Assessing the evidence for clinical utility in newborn screening Scott Grosse

27. The role of epidemiology in assessing the potential clinical impact of pharmacogenomics David L. Veenstra

28. The human epigenome and cancer Mukesh Verma

29. The use of family history in public health practice: the epidemiologic view Rodolfo Valdez, Muin J. Khoury, and Paula W. Yoon

PART V: Case studies: Assessing the use of genetic information in practice for specific diseases 30. Cytochrome P450 testing in the treatment of depression Iris Grossman, Mugdha Thakur, and David B. Matchar

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 Monica R. McClain , Glenn E. Palomaki, Margaret Piper, and James E. Haddow

32. Hereditary hemochromatosis: Population screening for gene mutations Diana B. Petitti