human genome epidemiology 2nd edition building the evidence for using genetic information to improve health and prevent disease jan 2010

[...]... Foundation for Using Genetic Information to Improve Health and Prevent Disease (1) In it, we 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 We called this continuum human genome epidemiology (or HuGE) to. .. the risk for adverse health outcomes and to identify and measure the impact of modifiable risk factors that interact with gene variants Epidemiologic studies are also required for evaluating clinical validity and utility of new genetic tests, to monitor population use of genetic tests and to determine the impact of genetic information on the health and well-being of different populations The results... studying genetic factors in common diseases In addition, the book focuses on practical applications of human genome variation in clinical practice and disease prevention We hope that students, clinicians, public health professionals, and policy makers will find the book useful Human Genome Epidemiology 11 in learning about evolving methods for approaching the discovery and the use of genetic information. .. 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... development of the knowledge base on human genetic variation and population health and the use of this information in improving health and preventing disease (29) HuGENet has focused on developing methods and guidance to integrate and disseminate a global knowledge base on assessing the prevalence of genetic variants in different populations, genotype -disease associations, and gene-gene and gene-environment... interactions, and evaluating genetic tests for screening and prevention During the past three years, HuGENet has made many methodological and substantive contributions to the field HuGENet has developed a Web-based searchable knowledge base (the HuGE Navigator) that captures ongoing publications in human genome epidemiology (30) The HuGE Navigator is searchable by disease, gene, and disease risk factors Furthermore,... base on genetic variation and human health (37) The HuGE Roadmap Revisited With all these ongoing developments, we have invited many authors who are leaders in the field to produce the second edition of Human Genome Epidemiology Our aim is to inform readers of new developments in the genomics field and how epidemiologic methods are being used to make sense of this information We do realize that the material... applications to assess the population impact of human genetic variation on health and disease, and how the resulting information can be used to improve population health We discussed and gave examples that illustrated that after the discovery of genetic variants associated with diseases, additional well-conducted epidemiologic studies are needed to characterize the population impact of gene variants on the. .. studies will help medical and public health professionals integrate human genomics into practice The Rationale for a Second Edition of Human Genome Epidemiology Since 2004, advances in human genomics have continued to occur at a breathtaking pace Although the concept of personalized healthcare and disease prevention often promised by enthusiastic scientists and the media is yet to be fulfilled, we are... review of the concept of Mendelian Randomization, an approach that allows us to assess the role of environmental factors and other biomarkers in the occurrence of human diseases using data on the association of genetic variation and disease endpoints In Chapter 22, we discuss how clinical epidemiologic concepts and methods can be used to assess whether one or more genetic variants (e.g., genome profiles) . Human Genome Epidemiology This page intentionally left blank HUMAN GENOME EPIDEMIOLOGY Second Edition Building the Evidence for Using Genetic Information to Improve Health and Prevent Disease Edited. Cataloging-in-Publication Data Human genome epidemiology : building the evidence for using genetic information to improve health and prevent disease / edited by Muin J. Khoury [et al.]. — 2nd ed. p. ; cm. Includes. scienti c foundation for studying the continuum from gene discovery to the development, applications, and evaluation of human genome information in improving health and preventing dis- ease.