Executive Summary of the 1997 Genomics Strategic Plan

By the year 2005, most–if not all–of the estimated 100,000 human genes will have been identified, and tests for more than 400 genes are already available in medical practice. Genes found thus far include not only those associated with rare diseases, but also genes that increase susceptibility to common diseases. Risk for disease increases when genes interact with environmental factors, including chemical, physical, and infectious agents, and behavioral or nutritional factors.

How to use knowledge from genetics research to promote health and prevent disease and disability is now being explored. But information is lacking about the benefits and risks of genetic testing, the efficacy of early interventions, and the population distribution of genotypes and other risk factors associated with disease conditions. Moreover, the complex and controversial issues that have emerged–such as the quality of laboratory testing, the rapid commercialization of genetic tests, the availability of and people’s access to interventions, and the potential discrimination against and stigmatization of individuals and groups–call for public health leadership.

As the nation’s prevention agency, CDC must collaborate with other federal agencies and many partners in ensuring that advances in medical genetics are appropriately used for promoting health and preventing disease and disability. In September 1996, CDC’s Director, Dr. David Satcher, 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 programs 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.

This strategic plan focuses on human genetics only and is based on the assumption that the use of genetic information in public health is appropriate in diagnosing, treating and preventing disease, disability, and death among people who inherit specific genotypes. Prevention includes the use of medical, behavioral, and environmental interventions to reduce the risk for disease among people susceptible because of their genetic makeup and does not include preventing the of birth of people with specific genotypes. This plan supports the responsible use of genetic tests and services, including adequate family history assessment and genetic counseling, for promoting health and preventing disease in different communities. The plan assumes that the delivery of genetic tests and services will be done within the context of the evolving health care system, including managed care organizations, rather than by public health agencies. Public health agencies will, however, have an increasing role in assessing the health needs of populations, assuring the quality of genetic tests and services, and evaluating the impact of interventions. This plan does not discuss clinical practice guidelines for individual patients and their families.

The task force developed a conceptual framework for a public health program in genetics. The framework identifies four essential program components–public health assessment; evaluation of genetic testing; intervention development, implementation, and evaluation; and communication and information dissemination–and three critical issues that affect each component–partnerships and coordination; ethical, legal, and social issues; and education and training.

Using this framework, the task force developed seven broad goals that collectively form a strategy for strengthening CDC’s existing activities and developing new initiatives in genetics and public health. These long-term goals can be achieved through the coordinated efforts of the agencies of the Department of Health and Human Services (HHS), in collaboration with state and local health departments, schools of public health, and professional, academic, industry, and consumer organizations.

• Goal 1: Foster partnerships and coordination of genetic activities within and outside of CDC to promote health and prevent disease and disability.
• Goal 2: Ensure that ethical, legal, and social issues are addressed in applying genetics to the promotion of health and the prevention of disease and disability.
• Goal 3: Assess how risk for disease and disability is influenced by the interaction of human genetic variation with modifiable risk factors.
• Goal 4: Ensure the appropriateness and quality of population-based genetic testing.
• Goal 5: Ensure that genetic tests and services are incorporated into population-based interventions that promote health and prevent disease and disability.
• Goal 6: Build capacity to promote health and prevent disease and disability by training public health professionals in genetics.
• Goal 7: Provide timely and accurate information to both the general public and professional audiences on the role of genetics in the promotion of health and the prevention of disease and disability.

After developing supporting objectives, the task force recommended specific steps that CDC can take to fulfill these goals. The recommendations for immediate action are listed below. Each of these recommendations has potential policy, coordination, partnership, and resource implications. The implementation of each recommendation will require the availability of adequate resources.

Sustain a coordinated focus on genetics and public health at CDC.

The program activities recommended in this strategic plan will be implemented by CDC’s various centers, institutes, and offices. A CDC Office of Public Health Genomics should perform the following functions: (1) coordinate genetics activities throughout CDC and ensure that these activities are consistent with the policies and priorities of the Department of Health and Human Services; (2) develop guidelines for setting cross-cutting priorities in public health genetics; (3) assess needs for professional expertise and capacity for activities in genetics at CDC and at the state level; (4) cultivate partnerships with external agencies, organizations, and constituencies to coordinate efforts and ensure a productive exchange of information and concerns; (5) assess how current and proposed laws, regulations, and rulings affect genetics activities at CDC and the state level (in collaboration with CDC’s Office of the Director); and (6) coordinate workshops on critical cross-cutting issues (e.g., informed consent), from which guidelines and recommendations may emerge.

Establish mechanisms for external input, particularly for ethical, legal, and social issues.

Create a liaison with the Ethical, Legal, and Social Implications program of the National Institutes of Health’s National Human Genome Research Institute. Consider establishing a genetics subcommittee of the CDC Advisory Committee and ensure that these efforts are coordinated with other HHS advisory committees on genetics. Convene external consultants from different organizations to discuss early implementation steps of this strategic plan and seek regular external input thereafter. These mechanisms can help ensure that CDC remains connected with and responsive to a broad community that can help anticipate and address the complex philosophical and practical issues of genetics at CDC.

Provide training opportunities to enhance the skills and knowledge of public health professionals.

Develop an introductory training course in genetics and public health that includes a module on ethical, legal, and social issues. Sponsor a CDC-wide career development program to develop additional expertise in genetics in public health. Develop a network of professionals involved in epidemiologic studies of human genes to foster collaboration, information sharing and training. These educational activities will help increase understanding regarding the role of genetics in disease prevention and fill gaps in professional knowledge.

Develop a strategy for communication about genetics.

In collaboration with CDC’s Office of Communication, conduct a comprehensive review of communication research in genetics, develop a plan for assessing the information needs of various audiences, develop messages, and select media for disseminating information about genetics and public health. Use the Internet as one distribution mechanism. These activities will ensure that the dissemination of information is coordinated, accurate, and timely.

Sponsor intramural activities on applied genetic research.

Make seed money available, through a competitive funding process, to support startup genetics projects throughout CDC. Available funding from CDC can be supplemented with funds from the different centers, institutes, and offices. Establish a panel for the objective review and ranking of proposals according to agreed upon criteria. These projects will allow CDC to expand ongoing activities and build scientific credibility and capacity for new activities in multiple centers, institutes, and offices.

Expand activities to ensure the quality of genetic testing.

Establish a genetics subcommittee for the advisory committee of CLIA (Clinical Laboratory Improvement Act Amendments of 1988). In collaboration with the Food and Drug Administration and the Health Care Financing Administration, improve CLIA regulations by creating a new category for molecular diagnostics. Collaborate with professional organizations such as the American College of Medical Genetics and the College of American Pathologists to define CDC’s role in relation to other organizations in quality assurance for genetic testing. Conduct studies on methods to improve testing performance and to develop guidelines and models for quality assurance.

Sponsor extramural projects to evaluate intervention programs that use genetic tests and services.

Use a competitive process to evaluate ongoing interventions (e.g., sickle cell disease, familial hypercholesterolemia) and assess prevention effectiveness. Support for extramural activities should focus on applied research in diverse populations and various settings. The amount of funding will depend on availability of resources.

Sponsor the first annual meeting on genetics in public health.

Create a forum for the ongoing exchange of information on the application of genetic advances to public health practice. Sessions can cover recent discoveries, ethical concerns, data sources, programmatic considerations, policy issues, information technology, and other topics. Professionals from various disciplines can share experiences and concerns about the impact of genetic advances on public health.