Recommendations of the 1997 Genomics Strategic Plan

Introduction

The recommendations presented here are the initial action steps of the strategic plan. These recommended actions are an outgrowth of the goals and objectives previously described. Consistent with the philosophical foundation of the strategic plan, the recommendations are designed to ensure that the highest ethical standards are used in applying knowledge in human genetics to promoting health and preventing disease and disability.

The recommendations are presented in two parts: immediate actions for fiscal years 1997-1998 and continued actions for fiscal years 1999-2001. Both parts should be viewed as integrated sets of activities that create the overall environment necessary for a successful endeavor. Further, the recommendations are not necessarily listed in order of priority since selected activities must be simultaneously undertaken in multiple areas. The implementation plan for these recommendations will take into account the availability of resources.

Recommendations for immediate action

1. 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 National 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.

2. 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.

3. Provide public health professionals with training opportunities to enhance their skills and knowledge.

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 at CDC and the public health community. Develop a network of professionals involved in epidemiologic studies of human genes to foster collaboration, information sharing, and training. These educational activities will help public health professionals better understand the role of genetics in disease prevention.

4. 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.

5. 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.

6. 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 quality assurance for genetic testing in relation to that of other organizations. Conduct studies on methods to improve testing performance and to develop guidelines and models for quality assurance.

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

Use a competitive process to evaluate ongoing interventions (e.g., cell disease, or 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.

8. 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 their experiences and concerns about the effect of genetic advances on public health.

Recommendations for continued action (FY 1999-2000)

1. Extend training opportunities in genetics and public health.

Offer continuing education and specialized training in laboratory methods and genetic epidemiology for CDC personnel and others involved in genetic research or service delivery. Provide support to academic institutions and health departments for developing the capacity of public health professionals in genetics and disease prevention. These activities strengthen the public health community by helping it keep pace with continued advances in genetics and be prepared to address new issues.

2. Cosponsor the development of an integrated genetics information network.

Collaborate with the National Coalition for Health Professional Education in Genetics and other public and private organizations in developing a virtual information center for genetics. Make the system accessible to health professionals and the general public but target components of it to specific audiences. Use the most advanced information technologies to interconnect users, information sources, and services so that they can better exchange information.

3. Expand existing surveillance and health information systems for the collection and analysis of genetics data.

Enhance existing systems designed to determine the population frequency of selected health conditions and genotypes and to gain information on the potential public health impact of genetic testing. In collaboration with HHS agencies, develop model surveillance systems for rare genetic diseases that have a collective effect on public health. Together, these activities will advance knowledge about the interaction between genotype, environment, and disease, and provide information crucial to the ongoing setting of priorities, allocation of resources, and development of programs.

4. Expand activities to ensure the quality of genetic testing programs.

Add to the activities recommended for immediate action by (1) developing model quality assurance programs for selected genetic tests and technologies and (2) sponsoring population-based studies of genetic testing issues. Ensure that these activities assess not only laboratory testing but genetic counseling services, ethical concerns, people’s access to genetic testing, and the validity of test results. Determine how valuable the use of specific genetic tests are to reducing death, disease, and disability.

5. Develop guidelines and recommendations on the use of genetic tests and services.

In collaboration with HHS agencies, issue recommendations on population-based testing for selected conditions and guidelines for guarding against the misuse of genetic information. This information will provide both practitioners and consumers with information needed to make informed decisions. These activities are consistent with CDC’s role in providing guidance in health promotion and disease prevention.

6. Sponsor extramural projects to assess interventions based on genetic tests and services.

Support community-based demonstration projects that integrate interventions using genetic tests and services into public health practice. Develop partnerships between public health and academic research centers that will translate the findings from the Human Genome Project into health promotion and disease prevention strategies. Such centers will enhance the network through which research results can reach people in communities.