Background of the 1997 Genomics Strategic Plan

Advances in genetic technology

In 1990, the Human Genome Project was jointly started by the National Institutes of Health (NIH) and the Department of Energy (DOE) (Watson, 1990; Guyer and Collins, 1995). By the year 2005, most–if not all–of the estimated 100,000 human genes will have been found. More than 8,000 genes have already been cataloged (Online Mendelian Inheritance in Man [OMIM], 1997), and tests for more than 400 genes are available in medical practice.

The genes identified thus far include not only those associated with rare metabolic disorders and specific malformation syndromes, but also genes that increase susceptibility to common diseases. When such susceptibility genes interact with the environment (which includes chemical, infectious, physical, social, psychological, behavioral, and nutritional factors), the risk is increased for major chronic diseases, such as cancer, cardiovascular disease, and Alzheimer’s disease.

Number of Genes* Reported in OMIM for Selected Conditions

As a result of genetic research, information on people’s genetic susceptibility to and risk for disease is accumulating, and complex ethical, legal, and social issues are being raised (Hoffman, 1994; Whelan, 1995; Juengst, 1995). The effective use of this knowledge and technology has become a burgeoning challenge to the public health community (see appendices A-C; Feder et al., 1996; Miki et al., 1994; Dean et al., 1996).Yet the use of this knowledge in promoting health and preventing disease and disability has scarcely been explored. Information is lacking about the population distribution of genotypes and other risk factors associated with disease conditions, the benefits and risks of genetic testing, and the efficacy of early interventions. The complex and controversial issues that have emerged–about quality assurance for laboratory testing, rapid commercialization of genetic tests, availability of and access to effective and acceptable interventions, and potential discrimination against and stigmatization of individuals and groups–call for public health leadership.Need for public health leadership in geneticsAs the nation’s prevention agency, CDC must collaborate with many partners in ensuring that medical genetics is appropriately incorporated into public health practice (Satcher, 1996). This endeavor falls within CDC’s mission (see box) and the core functions of public health agencies: assessment, policy development, assurance, and evaluation (Institute of Medicine, 1988; Khoury and Genetics Working Group, 1996; Omenn, 1996). CDC must coordinate its genetics activities with those of other federal agencies, including but not limited to the National Institutes of Health, the Health Resources and Services Administration, the Agency for Health Care Policy Research, the Food and Drug Administration, and the Health Care Financing Administration.More than half the centers, institutes, and offices (CIOs) at CDC are conducting research or intervention activities in genetics and public health (see Appendix D). Some of these activities are well established and nationally recognized, and some are still evolving. These activities indicate not only the breadth and depth of activity in genetics at CDC, but also the considerable expertise in genetics and public health throughout the agency.Strategic planning or genetics in public healthIn September 1996, Dr. David Satcher, CDC’s Director, appointed the agency-wide, ad hoc Task Force on Genetics in Disease Prevention to propose a strategic plan through which the agency might coordinate and strengthen its activities in genetics and public health. Specifically, the primary functions of the task force were to (1) develop a strategic plan for CDC-wide genetics activities, (2) coordinate and support efforts involving multiple CIOs at CDC, and (3) convene constituents and consultants to obtain their advice on strategic planning and priorities for CDC activities related to genetics in public health. The main objectives of the task force were to identify CDC’s prevention activities in genetics, evaluate current practices, identify the issues of greatest concern in public health and genetics, and outline CDC’s future role in genetics.The task force, which included people with diverse backgrounds from throughout CDC (see Appendix E), solicited input from other CDC staff members and from external sources, including people from academia, professional organizations, consumer groups, state health departments, and federal agencies. After its inception, the task force met weekly and held several retreats to debate the implications of multifaceted issues; conducted a survey to identify genetics-related activities and possible future efforts at CDC; held a two-day meeting of outside consultants to discuss CDC’s future role in genetics and public health (see appendices F and G); and drafted this strategic plan. Many of these activities, including consultation with representatives of outside agencies, groups, and organizations, are ongoing.  The task force also received support and guidance from an oversight group created by Dr. Satcher. The oversight group, which consisted of representatives from the Office of the Director and each CIO, is co-chaired by Dr. James Marks (Director, National Center for Chronic Disease Prevention and Health Promotion) and Dr. Richard Jackson (Director, National Center for CDC, helped Environmental Health). The oversight group provided input on policy and programmatic implications for CDC, helped ensure that programs throughout CDC were informed about the actions of the task force, and reviewed the strategic plan developed by the task force.The task force was aware of the important efforts of several other groups making recommendations on genetic issues, such as the National Bioethics Advisory Commission, and the committee chaired by Dr. Mark Rothstein that reviewed the Ethical, Legal and Social Implications Program at the National Institutes of Health. In particular, the task force acknowledges the important contributions of the joint NIH-DOE Task Force on Genetic Testing (TFGT), chaired by Dr. Neil Holtzman, which had representatives from various private, professional, industry, and consumer organizations, in addition to representatives from various HHS agencies. The TFGT, which was charged with drafting recommendations to ensure the safety and effectiveness of genetic testing in the United States, produced its final report in May 1997 (see appendix H for selected recommendations). The CDC task force has incorporated many of the recommendations of the TFGT in its deliberations, specifically, those that call upon CDC to play an essential role in gathering population-based data on genetic tests, to expand its surveillance capabilities on the natural history of genetic disorders such as trends in morbidity, disability and mortality associated with various genetic conditions, to conduct epidemiologic studies to learn more about the validity, safety, and effectiveness of genetic tests, and to apply knowledge gained to help ensure a high level of quality in testing.

Number of Genes* Reported in OMIM for Selected Conditions

Yet the use of this knowledge in promoting health and preventing disease and disability has scarcely been explored. Information is lacking about the population distribution of genotypes and other risk factors associated with disease conditions, the benefits and risks of genetic testing, and the efficacy of early interventions. The complex and controversial issues that have emerged–about quality assurance for laboratory testing, rapid commercialization of genetic tests, availability of and access to effective and acceptable interventions, and potential discrimination against and stigmatization of individuals and groups–call for public health leadership.

Need for public health leadership in genetics

As the nation’s prevention agency, CDC must collaborate with many partners in ensuring that medical genetics is appropriately incorporated into public health practice (Satcher, 1996). This endeavor falls within CDC’s mission (see box) and the core functions of public health agencies: assessment, policy development, assurance, and evaluation (Institute of Medicine, 1988; Khoury and Genetics Working Group, 1996; Omenn, 1996). CDC must coordinate its genetics activities with those of other federal agencies, including but not limited to the National Institutes of Health, the Health Resources and Services Administration, the Agency for Health Care Policy Research, the Food and Drug Administration, and the Health Care Financing Administration.

More than half the centers, institutes, and offices (CIOs) at CDC are conducting research or intervention activities in genetics and public health (see Appendix D). Some of these activities are well established and nationally recognized, and some are still evolving. These activities indicate not only the breadth and depth of activity in genetics at CDC, but also the considerable expertise in genetics and public health throughout the agency.

Strategic planning or genetics in public health

In September 1996, Dr. David Satcher, CDC’s Director, appointed the agency-wide, ad hoc Task Force on Genetics in Disease Prevention to propose a strategic plan through which the agency might coordinate and strengthen its activities in genetics and public health. Specifically, the primary functions of the task force were to (1) develop a strategic plan for CDC-wide genetics activities, (2) coordinate and support efforts involving multiple CIOs at CDC, and (3) convene constituents and consultants to obtain their advice on strategic planning and priorities for CDC activities related to genetics in public health. The main objectives of the task force were to identify CDC’s prevention activities in genetics, evaluate current practices, identify the issues of greatest concern in public health and genetics, and outline CDC’s future role in genetics.

The task force, which included people with diverse backgrounds from throughout CDC (see Appendix E), solicited input from other CDC staff members and from external sources, including people from academia, professional organizations, consumer groups, state health departments, and federal agencies. After its inception, the task force met weekly and held several retreats to debate the implications of multifaceted issues; conducted a survey to identify genetics-related activities and possible future efforts at CDC; held a two-day meeting of outside consultants to discuss CDC’s future role in genetics and public health (see appendices F and G); and drafted this strategic plan. Many of these activities, including consultation with representatives of outside agencies, groups, and organizations, are ongoing.  The task force also received support and guidance from an oversight group created by Dr. Satcher. The oversight group, which consisted of representatives from the Office of the Director and each CIO, is co-chaired by Dr. James Marks (Director, National Center for Chronic Disease Prevention and Health Promotion) and Dr. Richard Jackson (Director, National Center for CDC, helped Environmental Health). The oversight group provided input on policy and programmatic implications for CDC, helped ensure that programs throughout CDC were informed about the actions of the task force, and reviewed the strategic plan developed by the task force.

The task force was aware of the important efforts of several other groups making recommendations on genetic issues, such as the National Bioethics Advisory Commission, and the committee chaired by Dr. Mark Rothstein that reviewed the Ethical, Legal and Social Implications Program at the National Institutes of Health. In particular, the task force acknowledges the important contributions of the joint NIH-DOE Task Force on Genetic Testing (TFGT), chaired by Dr. Neil Holtzman, which had representatives from various private, professional, industry, and consumer organizations, in addition to representatives from various HHS agencies. The TFGT, which was charged with drafting recommendations to ensure the safety and effectiveness of genetic testing in the United States, produced its final report in May 1997 (see appendix H for selected recommendations). The CDC task force has incorporated many of the recommendations of the TFGT in its deliberations, specifically, those that call upon CDC to play an essential role in gathering population-based data on genetic tests, to expand its surveillance capabilities on the natural history of genetic disorders such as trends in morbidity, disability and mortality associated with various genetic conditions, to conduct epidemiologic studies to learn more about the validity, safety, and effectiveness of genetic tests, and to apply knowledge gained to help ensure a high level of quality in testing.