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Human Genome Epidemiology, 2nd Edition – Building the evidence for using genetic information to improve health and prevent disease - Oxford Scholarship Online
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Human Genome Epidemiology, 2nd Edition: Building the evidence for using genetic information to improve health and prevent disease

Muin Khoury, Sara Bedrosian, Marta Gwinn, Julian Higgins, John Ioannidis, and Julian Little

Abstract

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, application 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 ... More

Keywords: gene discovery, improving health, preventing disease, human genomics, genetic factors, common diseases, synthesis of data, medicine, public health

Bibliographic Information

Print publication date: 2009 Print ISBN-13: 9780195398441
Published to Oxford Scholarship Online: May 2010 DOI:10.1093/acprof:oso/9780195398441.001.0001

Authors

Affiliations are at time of print publication.

Muin Khoury, editor
Centers for Disease Control and Prevention

Sara Bedrosian, editor
Centers for Deisease Control and Prevention

Marta Gwinn, editor
Centers for Disease Control and Prevention

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Contents

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Front Matter

Title Pages

Preface

Acknowledgments

Contributors

I FUNDAMENTALS OF HUMAN GENOME EPIDEMIOLOGY REVISITED

1 Human genome epidemiology: the road map revisited

Muin J. Khoury, Sara R. Bedrosian, Marta Gwinn, Julian Little, Julian P. T. Higgins, and John P. A. Ioannidis

2 Principles of analysis of germline genetics

Jesus Gonzalez-Bosquet, and Stephen J. 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 Gwinn, and Wei Yu

II METHODS AND APPROACHES FOR DATA COLLECTION, ANALYSIS, AND INTEGRATION

5 The global emergence of epidemiological biobanks: opportunities and challenges

Paul R. Burton, Isabel Fortier, and Bartha M. 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 Gwinn, Julian Little, Julian P. T. Higgins, Jonine L. Bernstein, Paolo Boffetta, Melissa L. Bondy, Molly S. Bray, Paul E. Brenchley, Patricia A. Buffler, Juan Pablo Casas, Anand P. Chokkalingam, John Danesh, George Davey Smith, Siobhan M. Dolan, Ross Duncan, Nelleke A. Gruis, Mia Hashibe, David J. 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 C. Thomas

9 The challenge of assessing complex gene– environment and gene–gene interactions

Peter Kraft, and David J. 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, Kimberley Hutchings, Candice Y. Johnson, Valerie Tait, Miriam Wiens, Jean Golding, Cornelia M. van Duijn, John McLaughlin, Andrew Paterson, George Wells, Isabel Fortier, Matthew Freedman, Maja Zecevic, Richard A. King, Claire Infante-Rivard, Alexandre 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 diseases

Muin J. Khoury, Lars Bertram, Paolo Boffetta, Adam S. Butterworth, Stephen J. Chanock, Siobhan M. Dolan, Isabel Fortier, Montserrat Garcia-Closas, Marta Gwinn, Julian P. T. Higgins, A. Cecile J. W. Janssens, James M. 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

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, and Julian Little

14 Childhood leukemias

Anand P. Chokkalingam, and Patricia A. Buffler

15 Bladder cancer

Jonine D. Figueroa, Montserrat Garcia-Closas, and Nathaniel Rothman

16 Type 2 diabetes

Eleftheria Zeggini, and Mark I. McCarthy

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

IV APPLICATIONS OF EPIDEMIOLOGIC METHODS FOR USING GENETIC INFORMATION IN MEDICINE AND PUBLIC HEALTH

21 Mendelian randomization: the contribution of 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

James 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 H. Wade, and Colleen M. McBride

26 Assessing the evidence for clinical utility in newborn screening

Scott D. 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

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

End Matter

Index