21st Century: AJHG Book Review

American Journal of Human Genetics
November 2001
“The findings and conclusions in this book chapter are those of the author(s) and do not necessarily represent the views of the funding agency.”


Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease

Edited by Muin J Khoury, Wylie Burke and Elizabeth J Thomson
New York: Oxford University PressExternal, 2000;
xx + 615 pp; ISBN 0-19-512830-3

For several years now, there has been a major effort from these authors and others to identify and formally conceptualize the field that is called Public Health Genetics.This field has been difficult to reconcile because of the notion that genetics involves only self and immediate family, while public health is applicable to populations, not individuals. Typically, we do not use public health words like intervention, prevention, and behavior modification coupled with genetics. Nor does genetics have a particularly high cost-benefit ratio typical of many public health programs. We now have book that delineates the fledgling field of Public Health Genetics and demonstrates how the field can readily engage individuals from both disciplines. The book, Genetics and Public Health in the 20th Century, authored by Muin J. Khoury, Wylie Burke, and Elizabeth J. Thomson covers all aspects of public health from definitions, to birth defects, consent and legal issues to hemochromatosis and newborn screening. The book has 31 chapters and makes an excellent reference handbook for those interested or actively involved in the process of incorporating genetics into the public health arena. The book reads well because the individual chapters are relatively short and each manages to highlight particularly relevant issues on each topic.

The book is comprised of six parts. The first, “Genetics and Public Health: An Overview” is comprised of five chapters that provides an overview of public health. This section includes a framework for integrating genetics into public health (chapter 1), a historical perspective (chapter 2), opportunities for disease prevention (chapter 3), models for policy development (chapter 4) and a closing chapter on the multidisciplinary nature of public health genetics (chapter 5).

The second part of the book, “Public Health Assessment” is comprised of six chapters with topics in epidemiology (chapter 6), birth defects (chapter 7), hemophilia (chapter 8), predisposition to cancer (chapter 9), susceptibility to infectious disease (chapter 10), and assessment of public health in an occupational setting (chapter 11). Part III “Evaluation of Genetic Testing” contains 2 chapters on the quality of genetic testing (chapter 12) and newborn screening quality assurance (chapter 13). Part IV, “Developing, Implementing, and Evaluating Population Interventions” has 11 chapters. This section is of utmost importance in the field, because as with all public health fields milestones and successes rely on the ability to detect where behavior change strategies and intervention tactics will increase the health of the population being served. The first chapter in this section describes various types of needs assessments for state-based genetic services (chapter 14). This is followed by a chapter that discusses challenges to the field and nicely outlines factors practicing geneticists need to keep in mind like access and ethno-cultural sensitivity in the United States (chapter 15). This is followed by chapters on genetics models in the Netherlands (chapter 16), and in developing countries (chapter 17). The next two chapters deal with genetics and prevention effectiveness models (chapter 18), and the role, impact, and outcomes of genetic counseling in public health (chapter 19). The remaining chapters in Part 4 describe newborn screening for phenylketonuria (chapter 20), cystic fibrosis (chapter 21), and sickle cell disease (chapter 22); each one discusses the lessons learned, successes, and caveats associated with these screening programs. Rounding out Part IV are chapters on the detection and prevention of hemochromatosis (chapter 23) and atherosclerosis (chapter 24).

The three chapters in Part V “Genetics and Public Health: Ethical, Legal, and Social Issues” discuss role of federal and state governments in genetics and public health practice (chapter 25), informed consent (chapter 26), and social risks and ethics associated with data handling and collection as well as surveillance (chapter 27). The book finishes off with Part VI, “Communication, Education, and Information Dissemination”. The four chapters of this most important section describe communication practices with emphasis on engaging the public in the delivery and acceptance of genetic information (chapter 28) and training options in public health genetics (chapter 29). The last two chapters discuss, consumer perspectives using poignant vignettes to illustrate consumer concerns (chapter 30), and the history of and a primer on the use of the Internet to dispense and retrieve genetic information (chapter 31) including two pages of relevant URLS.

As I read through it, I felt the book would be a useful guide for those like myself who have the task for assembling lectures in genetics with Public Health topics for Master’s of Public Health degree candidates. The book provides substantiative examples of how genetics really does impact their chosen field of study. In closing, for those of us who have been involved in any way in this “new” field of Public Health Genetics, by teaching, working, or practicing it, we have Drs. Khoury and Burke and Ms. Thomson to thank for formalizing it. This compendium of chapters is organized in a logical manner, and relays useful information regarding many aspects on the placement and the utility of genetics in public health settings. I would expect another edition of this book in a few years, larger in volume, to describe the latest developments in this field, hopefully laced with additional successful examples of the public health genetics in action.

M.Caggana, Am J Human Genetics 2001 (November issue)