MJ KhouryJ LittleW Burke

Human genome epidemiology

Oxford University Press Inc., New York, 2004

Discoveries occurring in the field of human genetics are expected to play a central role in medicine and public health by providing genetic information for disease prediction and prevention. The translation of genetic advances into actions to improve health and prevent diseases is depending on scientific information from multiples disciplines. Epidemiology plays a central role in this effort.

In this book, the authors aim to show how the epidemiologic approach will play an important role in the continuum from gene discovery to the development and applications of genetic test. The authors call this continuum human genome epidemiology (HuGE) to denote an evolving field of inquiry that uses systematic applications of epidemiologic methods to assess the impact of human genetic variation on health and disease.

HuGE is a unique text in which the leaders from a diverse group of disciplines have joined their efforts to create the first comprehensive text on HuGE. This 549-page text is divided into four sections, which are further subdivided into 29 chapters.

Part I describes genomic technologies and their applications, and summarizes the ethical, legal, and social issues for conducting epidemiologic studies of the human genome. Part II addresses epidemiologic approaches to the studies of genotypes in populations and their relation to diseases. Part III deals with the application of epidemiologic methods to assess genetic information for clinical and public health applications. Part IV uses case studies to illustrate concepts discussed in the first three sections in relation to specific disease examples including gene–environment interactions (pesticides and oral contraceptive use), chronic diseases (colon cancer, Alzheimer disease, cardiovascular disease, breast cancer, and hemochromatosis), occupational exposures, newborn screening issues (fragile X syndrome and hearing loss), and infectious disease (HIV-1 infection).

HuGE is an invaluable resource for a wide audience including epidemiologists, clinical geneticists, molecular geneticists, cytogeneticists, statistical geneticists, population geneticists, services geneticists, medical students, residents, and basic and clinical scientistsâ–ª