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Book Reviews
Genetics and Public Health in the 21st
Century: Edited by Muin J Khoury, Wylie Burke and Elizabeth J Thomson Advances in human genetics, due in large part to the Human Genome Project, are finding their way into health care and medical practice at breathtaking speed. There is great excitement as to the potential uses of genetic knowledge in disease prevention and health promotion. Now is the time for public health professionals to take leadership in the exploration of the best use of the knowledge obtained from genetics research to promote health and prevent disease. This book is both timely and comprehensive in addressing issues related to genetics and public health, and, most importantly, providing a reality check to the excitement and heightened expectations that have accompanied human genetics advances. It identifies the current situation and knowledge and points out the gaps in this complex area and the challenging work that remains to be done. It provides a multidisciplinary overview and stresses the importance of interdisciplinary collaboration. Although its focus is on public health, the book skilfully presents all aspects of human genetics, including ethical, legal, educational and social issues. It gives consumers a voice and emphasizes the importance of their inclusion in policy development. Genetic services are not new to health care. They have historically been available as part of the reproductive and prenatal health care services. The focus has been primarily on rare single-gene Mendelian disorders. Genetic services are now undergoing a shift of focus to common complex conditions of major public health importance such as heart disease, diabetes, certain types of mental illness, neurological conditions, and cancer. The book, which is addressed to public health students, researchers and health practitioners, provides a solid foundation for integrating advances in human genetics into public health and medical practice. The contributors come from a variety of disciplines, reflecting the multidisciplinary nature of this field. The text is divided into six parts, reflecting the functions of public health: Genetics and Public Health: An Overview; Public Health Assessment; Evaluation of Genetic Testing; Developing, Implementing, and Evaluating Population Interventions; Genetics and Public Health: Ethical, Legal and Social Issues; and Communication, Education, and Information Dissemination. The first chapter of Part 1 offers a framework for the integration of human genetics into public health practice. Although the perspective of the book is mainly American, it is generic enough to be applied and adapted to fit the particular setting of a given country. The framework is built on the four public health functions relevant to human genetics, namely public health assessment (surveillance and epidemiology), evaluation of genetic testing, development, implementation and evaluation of population interventions, and communication and information dissemination. Critical issues in genetics and public health are also identified and discussed. The chapter presents examples of studies that are currently being carried out or that are needed, and identifies existing collaborative efforts. The remaining chapters cover the historical perspectives and current challenges and opportunities; the Human Genome Project, its evolving status and emerging opportunities for disease prevention; models of public health genetic policy development; and the multidisciplinary nature of public health genetics in research and education. The book presents fresh ideas for approaching medical and epidemiological research and reflects the multidisciplinary reality and complexity of issues with regard to human genetics and public health. Part 2 addresses public health assessment in depth, and each chapter is devoted to a particular discipline or area. Chapter 6 focuses on epidemiology and molecular biology. It provides examples of applications of molecular epidemiology in public health and of successful collaborations between multiple disciplines. It also discusses the necessary educational requirements to increase the genetics literacy of epidemiologists, public health professionals and the public. Chapters 7 and 8 discuss surveillance issues for birth defects and genetic diseases, and for hemophilia and inherited hematologic disorders, respectively. Chapter 9 presents the public health assessment of genetic predisposition to cancer. Cancer control is faced with a new paradigm that comprises the identification and modification of environmental risk factors among people with an inherited susceptibility to cancer. This chapter offers an overview of the present understanding of the genetics of common malignancies and highlights the gaps that have yet to be addressed. Similarly, Chapter 10 focuses on the public health assessment of genetic susceptibility to infectious diseases, malaria, tuberculosis, and HIV, and gives good detailed information on the integration of host genetic information into the prevention and control of infectious diseases. Chapter 11 addresses the public health assessment of genetic information in the occupational setting, especially with regard to research and regulation issues. Part 3 is devoted to the evaluation of genetic testing. For clinicians, genetic testing is the most readily applied and most frequently encountered application of human genetics discoveries. The importance of ensuring safe, effective and quality genetic testing is a priority currently facing public health professionals. Chapter 12 provides medical and public health strategies for ensuring the quality of genetic testing and presents the personnel requirements, educational needs and competency determination for the providers of genetic testing. Chapter 13 describes newborn screening quality assurance programs and discusses issues related to the banking and use of dried-blood spots for DNA testing. Part 4 encompasses the development, implementation and evaluation of population interventions, which are the ultimate goal of using genetic knowledge to promote health and prevent disease. This is where the book is the most applied and relevant to the purposes of public health functions. Chapter 14 describes the "dos and don'ts" of public health needs assessment. Issues regarding access to genetic services are discussed in Chapters 15 to 17. Chapter 18 presents prevention effectiveness models and how to critically evaluate them. Chapters 19 to 24 deal with various aspects of public health strategies aimed at promoting health and preventing disease, using specific examples of newborn screening programs and adult onset diseases. This part of the book presents the challenges of implementing public health interventions particularly well and does not shy away from identifying the hurdles already encountered by some efforts, such as the lack of behaviour modification in individuals who tested positive for a genetic predisposition to a given condition. The book does propose ways to address some of the hurdles and identifies where more evidence and research are needed. Part 4 also provides a somewhat international overview of genetic efforts in the Netherlands and in developing countries. It is unclear why the situation in the Netherlands was chosen to be included in this book, other than to discuss the concept of "community genetics." Other countries, such as the United Kingdom and Australia, which have done some work and produced documents on genetics and genetic testing, were not included in the book. The Canadian situation is not presented either. Canada is just beginning to address issues related to genetic testing for late onset diseases. Although the ethical, legal and social issues surrounding genetics and public health are discussed throughout the book, Part 5 addresses these topics in more depth, covering genetics, public health and the law; informed consent beyond the clinical encounter; the public health surveillance of genetic information; and the ethical and legal responses to social risk. Part 6, on communication, education and information dissemination, covers the basic requirements of the communication processes and outcomes of genetic medicine in a public health framework, in keeping with ethical and social responsibilities. It also outlines the transactional model of communication and its applications to public health genetics. Chapter 29, on training in public health genetics, addresses the educational requirements of many public health disciplines and recommends future directions. Chapter 30 presents the consumer perspective on genetic testing, with personal accounts that remind readers of the real people behind all the policies and programs. The chapter discusses the role of consumers in the policy implications of genetic testing. Finally, Chapter 31 deals with using the Internet to disseminate genetic information for public health. Advances in the study of human genetics are permeating every discipline involved in public health. Inevitably, all public health professionals will be required to integrate human genetic research, policy and program development into their daily work. This valuable book will be of great assistance to them in doing so.
Spatial Epidemiology: Methods and Applications Edited by P Elliott, JC Wakefield, NG Best and DJ Briggs There is a growing interest in the field of population health and a general acceptance that a wide range of factors, or determinants, influence health outcomes. A number of these determinants, such as particulate air pollution, have distinctive patterns of space, while others, such as income inequality or residential segregation, are attributes of places. In order to understand the influence of these determinants it may be most efficient, and in some cases essential, to use spatial studies. Unfortunately, space has received little attention in the discipline of epidemiology, which is why it is refreshing to see a book like Spatial Epidemiology. First, I would like to clarify what this book is and is not. While it does include 25 chapters on various aspects of spatial epidemiology, it is not "a comprehensive reference on ... the field of spatial epidemiology," as the jacket advertises. In fact, the editors make this clear by declaring in the first chapter that the focus is on small-area studies. They go on to give arguments as to why small-area studies are better than other types of spatial analyses. Fortunately this thread of argument is not carried through the rest of the text, though most of the chapters do centre on small-area studies. Nevertheless, the book is a useful reference for researchers interested in spatial epidemiology. There are four sections: health and population data, statistical methods, disease mapping and clustering, and exposure and the link to health. The chapters in the first section cover issues that arise in using spatial data: inaccuracies in geocoding, differences in coding health outcomes between administrative areas, problems in census data, ascertainment bias caused by migration, socio-economic confounding of environmental exposures, non-uniform exposure within areas, spatial dependence and the modifiable area unit problem (MAUP). While the specific examples used are predominantly small-area studies, the issues are important to any type of spatial analysis. However, two important discussions are missing from this section: contextual variables and scale. The second section presents a smorgasbord of statistical methods that will make any spatial epidemiologist's mouth water. While this section also focuses on small-area studies and cluster detection, there is an entire chapter devoted to ecological correlation studies. I commend the authors for providing many comparative examples of methods in action, and their bibliographies alone are worth the cover price of this book. However, the discussion is pitched over the heads of people new to the area of spatial statistics and few guidelines are provided on which methods are best used for which study questions or research contexts. The third section mostly concerns disease mapping, its history, methodology, and problems with working with rare diseases or infectious diseases. These chapters bring up important questions in creating a map - what type of map, what area to use, what relative risk or rate to show, what colours or symbols to choose - and outline ways to answer them. Tacked on to the end are two chapters on cluster detection. The first (chapter 17) provides an excellent overview of clustering from a theoretical and historical perspective with lots of concrete examples of cancer cluster studies. It also explains the reasons to search for and examine clusters. The second chapter is the only one in the book to deal with scale in any sort of detail, illustrating the differences in the results of childhood leukemia studies conducted at different scales. Together, these chapters provide an excellent introduction to cluster analyses. The final section deals with exposure assessment, covering personal monitors, micro-media and ambient monitors, interpolation methods (in particular kriging), dispersion modelling, the use of remote sensing data and time-activity analysis. Three examples of fields where spatial epidemiology is useful are included: air pollution and the SAVIAH study, drinking water risks, and health risks posed by climate change. However, the drinking water chapter is disappointing because it manages to discuss issues in exposure assessment without addressing any spatial aspects. Chapter 20, on personal monitoring, also seems out of place in this book because it does not deal with spatial concepts. Happily, the remainder of this section is solid, and through examples, finally gets to the reasons for spatial epidemiology, a topic perhaps better placed at the beginning of the book. Spatial epidemiology is still a new field and while this book provides a useful reference for researchers already conducting spatial studies, it is unlikely to engage those who have yet to realize the relevance of such work. For instance, a discussion of integral and contextual variables,1 which are valid measures of an areal attribute, would be both relevant to a discussion of spatial data issues as well as provide an opportunity to argue for the use of spatial analyses. Although there is useful information in this book, it lacks coherence. The chapters read as stand-alone articles rather than as part of a whole, to the extent that some topics (such as the MAUP) are covered ad nauseam and others (such as scale) are barely touched. What it lacks is a sense of a shared set of principles among the authors. The book left me wanting to know why the authors think space is important to the study of health, and how spatial concepts, such as scale and spatial dependence, define the research they conduct.
References 1. Susser M. The logic in ecological: the logic of analysis. Am J Public Health 1994;84(5):825-829. |
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