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With the accelerating discovery of human genes, public health professionals are increasingly confronted with a large body of scientific information that will guide public health action. Because the broad mission of public health is to fulfill society's interest in assuring conditions in which people can be healthy, the integration of new genetic information in public health research, policy, and program development is unavoidable. Public health leadership is urgently needed to use genetic information to improve health and prevent disease, and to address ethical, legal and social issues resulting from inappropriate use of such information. In the not too-distant future, disease prevention and health promotion programs will routinely consider whether or not to use genetic information to help target behavioral, medical or environmental intervention activities in order to maximize benefit and minimize costs and harm to individuals. In anticipation of the expected growth at the interface of genetics and public health, this book delineates a framework for the integration of advances in human genetics into public health practice. It provides a comprehensive review of public health genetics, including chapters on important general issues such as newborn and other genetic screening, the delivery of genetic services, and the ethical, legal and social implications of the use of genetics within public health. It also reviews relevant clinical topics, the historical background, cross-cultural aspects, and communication issues. Contributors come from a wide range of fields including epidemiology, biostatistics, health policy and management, health services research, behavioral and social sciences, ethics, law, health economics, and laboratory sciences.
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Muin J. Khoury is at Office of Genetics and Disease Prevention, CDC, Atlanta. Wylie Burke is at University of Washington.From The New England Journal of Medicine:
Now that the first draft of the human-genome sequence has been substantially completed, attention is shifting to, among other things, proteomics, pharmacogenomics, the genetics of complex traits, and public health genetics. Although the first three areas of inquiry are new, the use of genetics to improve the health of the population -- current or future -- is not.
Public health was the asserted justification for state laws enacted before World War II that criminalized marriage or sexual relations between "genetically unfit" persons and authorized the involuntary sterilization of people with mental impairments as well as those who were merely deemed immoral. As recently as the 1970s, thousands of women were sterilized without their consent by the Indian Health Service. During the same period, the federal government sponsored a sickle cell-screening program before first obtaining community support or educating people at risk and the public about the difference between sickle cell disease and sickle cell trait. The result was needless anxiety, stigmatization, and discrimination.
New efforts to use genetics to improve public health are complicated by this history of abuses and the public's justifiable concern about avoiding any future recurrence. Against this challenging backdrop, Genetics and Public Health in the 21st Century: Using Genetic Information to Improve Health and Prevent Disease, an important and timely new book, highlights some of the most promising scientific approaches and daunting social issues facing public health genetics.
The book's 31 chapters delve into diverse topics, including genetic epidemiology and medical surveillance, screening of newborns, access to genetic services, genetic strategies in the prevention and treatment of various disorders, informed consent to genetic testing, ethical and legal responses to social risks created by genetic information, and professional and consumer education about genetics.
One cannot imagine a more distinguished group of editors and authors. The editors are the director of the Office of Genetics and Disease Prevention at the Centers for Disease Control and Prevention (Muin Khoury), a professor of medicine at the University of Washington and member of the Secretary's Advisory Committee on Genetic Testing (Wylie Burke), and the program director of the Ethical, Legal, and Social Implications Program of the National Human Genome Research Institute of the National Institutes of Health (Elizabeth Thomson). They have gathered a first-rate collection of thoughtful analyses of a range of important topics.
If there is a major substantive shortcoming of the book, it is that some of the chapters fail to confront the fundamental differences between medical genetics and public health genetics. Several of the chapters deal with traditional issues of the practice of medical genetics, such as when to use genetic testing and how to counsel patients, without carefully assessing whether or how public health is implicated. Indeed, neither this book nor any other source has made a persuasive case for the large-scale introduction of genetics into public health practice. If genetics is to have a more limited role in public health, then what are the contours of that role? What are the respective roles of the federal, state, and local governments; health care providers; and members of the public in using "advances in genetics and molecular biotechnology to improve public health and prevent disease" -- the editors' definition of public health genetics?
The introduction of genetic factors into traditional areas of public health -- occupational and environmental health, infectious disease, immunization, sanitation, toxicology, food safety, and nutrition -- is undoubtedly appropriate, but it still needs to be done with care. Surveillance systems for genetic disorders and genetic cofactors in cancer are important areas for research. Using assessments of genetic risk to identify changes that must be made in a person's lifestyle is a promising strategy for health promotion. The question of when to use genetically based interventions on a population basis to improve individual health, such as genetic screening for late-onset disorders, is more difficult to answer. Furthermore, even if genetic screening is appropriate on a population-wide basis in the clinical setting, genetic screening should not necessarily be considered within the purview of public health in the absence of further justification.
There is a need for greater clarity in the definition of public health genetics. To many health professionals, public officials, and members of the public, the term "public health" connotes more than the mere application of health measures on a population-wide basis. Public health implies that government has an affirmative role to protect the public's health, as well as the legal authority to impose mandatory measures to protect the public, and that the health benefits to the population clearly outweigh individual risks -- for example, with respect to immunization and screening of newborns.
In one of the book's most thoughtful chapters, "Access to Genetic Services in the United States: A Challenge to Genetics in Public Health," Jane S. Lin-Fu and Michele Lloyd Puryear observe the incongruity between the directiveness of public health and the nondirectiveness of genetic counseling. They also recognize that the traditional emphasis of public health on primary prevention is nearly impossible to implement in the context of genetics without raising the specter of eugenics.
Public health genetics is likely to operate under a cloud of suspicion until there is a delineation of its proper scope and until a scientifically and socially compelling rationale is developed for public health strategies involving direct intervention. In the meantime, this book should be read by anyone interested in understanding the potential risks and benefits of the new public health genetics.
Mark A. Rothstein, J.D.
Copyright © 2000 Massachusetts Medical Society. All rights reserved. The New England Journal of Medicine is a registered trademark of the MMS.
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