n of public health-is now being explored. However, population-based information is lacking about the distribution of genotypes in different populations, the benefits and risks of genetic testing, and the efficacy of early interventions. Moreover, the complex issues that have emerged (e.g., rapid commercialization of genetic tests, quality of laboratory testing, availability of and access to interventions, and potential discrimination against and stigmatization of individuals and groups) call for public health leadership.
Almost daily, gene discoveries are reported for a wide variety of human diseases (7). Unfortunately, what happens after a new gene discovery is announced is often a haphazard mixture of scientific excitement, heightened public awareness and commercial interest in developing and marketing genetic tests. This problem is exemplified by the events following the 1997 publication of an association between familial colorectal cancer in Ashkhenazi Jews and the presence of a common genetic variant in the adenomatosis polyposis coli (APC) gene (8). One example of the accompanying news coverage, a 1998 article "Genetic Defect Doubles Colon Cancer Risk"(9), stated the following:
"Researchers have found a new genetic defect present in one of every 17 American Jews that doubles a person's colon cancer risk. This mutation is now the most common cancer-associated gene defect identified in any ethnic population. Rarely present in non-Jews, the mutation appears to be responsible for about one in four cases of inherited colon cancer in Askhenazi Jews-those of Eastern European ancestry who constitute more than 95 percent of America's six million Jewish people. The good news is that scientists have developed a blood test, available for $200, that can detect this genetic defect. The test is advisable for everyone in the Ashkhenazim population, whether they have a family history of colon cancer or not."
Although this study needed further confirmation, and its implications for medical practice remain far from clear, the response illustrates the mounting pressures for a rapid transition from gene discovery to integration in clinical practice, which could result in the premature development and offering of genetic tests.
This book begins to explore the growing impact of the genetics revolution on public health practice in the new millennium. Section I addresses an overview of the integration of genetics in public health, starting with an overall framework (chapter 1), followed by historical perspectives (chapter 2), opportunities provided by the human genome project (chapter 3), models of public health genetics policy development (chapter 4), and the multidisciplinary nature of genetics in public health research and education (chapter 5).
Over the last 5 years, public health agencies have begun examining how advances in human genetics can be used to prevent disease and improve the health of the population (10). For example, as CDC developed a strategic plan (11) to address both the opportunities and challenges posed by advances in human genetics on public health practice, it became clear that much of public health training, infrastructure, policy and program development has not taken genetics into consideration. Notable exceptions are newborn screening programs for metabolic diseases, birth defects surveillance systems, and programs for children with special healthcare needs. Yet, as the science of gene discovery matures, there will be an increasing role for public health in closing the gap between gene discovery and applications to prevent most, if not all, human diseases, especially adult-onset chronic diseases.
The Institute of Medicine (IOM) report on the future of public health (12) can be used as a starting point for developing a long-term strategic plan for integrating genetics into public health practice. The IOM report defined three core functions for public health agencies: assessment, policy development, and assurance. Although genetics was not mentioned specifically in this report, the substantial recommendations of t