Conceptual Framework for a Public Health Program in Genetics

The task force developed a conceptual framework for a public health program in genetics (Figure 1). The framework identifies four essential program components and three critical issues that affect each component. Although not specifically identified, sound policy development and implementation is inherent in the framework of public health function (Institute of Medicine, 1988).

By program, the task force means a plan through which actions can be systematically taken toward achieving specified goals. For actions to be systematic, certain information necessary for setting priorities must be gathered. This information includes measuring the magnitude of a disease condition associated with a given genotype, the extent to which the condition can be prevented, the risks and benefits of interventions, and the cost of interventions and alternate strategies.

Figure 1: Conceptual Framework for a public health program in genetics

 Program Components

Component 1: Public health assessment

Public health assessment in genetics relies on the use of the highest-quality science in conducting surveillance and epidemiologic studies, the traditional forms of applied research in public health.

Surveillance

Surveillance is needed to determine the population frequency of:

• Genetic variants that predispose people to specific diseases, both common and rare.
• Morbidity and mortality associated with such diseases.
• Environmental factors known to interact with given genotypes in disease-producing ways.

Broadened surveillance would also collect information on the economic costs of genetic diseases (as expressed by health care costs, hospitalization rates, number of work days lost, years of potential life lost, and other measures), issues related to genetic testing (including access to services, quality of tests, usage by providers, and potential discrimination), and issues related to interventions (including availability and effectiveness).

CDC can build on existing surveillance systems and health information systems, such as the National Health and Nutrition Examination Survey (see box), that are maintained by federal agencies, state health departments, and other organizations. However, new models may be needed for surveillance of populations predisposed to a given genetic disease or having high exposure to compromising environmental factors. Further, the limitations of existing systems, such as incomplete coverage, remain concerns for those conducting surveillance in genetics and disease prevention.

Epidemiologic studies

Population-based studies are needed to identify the environmental factors, such as occupational exposures, diet, and behaviors, that contribute to the development of clinical disease among people susceptible because of their genotype. Such studies can also identify environmental factors that produce genetic alterations that lead to disease. Advances in human genetics may result in improvements in the predictive value of traditional epidemiologic risk factors. Epidemiologic studies that account for genotype or that correlate genotype with clinical findings may also reveal ameliorating factors, new interventions, or ways of applying standard interventions.

Component 2: Evaluation of genetic testing

This component merges two main sets of activities: (1) the assessment of how and when genetic tests are or can be used to promote health and to diagnose and prevent human disease and (2) the development of standards and guidelines for quality genetic testing. As used here, genetic testing refers to analyses (using molecular, biochemical, cytogenic, or other laboratory methods) of biologic specimens to identify genotypes that may influence a person’s risk for disease or disability. The task force recognizes that genetic testing should occur in the context of genetic service delivery, including adequate family history assessment and genetic counseling. Although the focus of this program component is the evaluation of genetic testing, it may also include the development of new genetic tests that are suitable for population-based testing. Such developments, however, will not be a major component of a public health genetics program.

Assessment of tests

The first set of activities includes the ongoing review and cataloging of genetic tests. Although activities are needed to evaluate the appropriateness of genetic testing on a population basis and the usefulness of such testing in promoting public health, efforts are also needed to ensure that high-quality genetic testing is available to all population segments, including disadvantaged populations. Availability can be affected by how convenient, affordable, and appropriate genetic testing is for people of specific cultures. By working with prevention partners, CDC can identify gaps in the availability of genetics tests, help develop the infrastructure necessary to increase their availability, and assess changes in their use.

For all populations, the appropriateness of genetic testing can be evaluated in many ways. For example, surveillance of health care providers might reveal which tests are ordered, which people are tested, whether the test is available to all people likely to benefit, and whether interventions are available and correctly applied once test results are known. Additional concerns about evaluation include the cost, sensitivity, and specificity of tests; the methods used to ensure confidentiality of results; and the availability and use of trained personnel for conducting tests and counseling clients about test results. Additional surveillance might seek to assess public awareness, understanding, and use of genetic tests–assessments that might be accomplished by adding questions to long-standing systems, such as the Behavioral Risk Factor Surveillance System and the National Health Interview Survey. Information might also be sought from particular groups at known risk for specific genetic conditions. In all assessments, the needs and concerns of the general public and affected subgroups must be addressed in the design of the research activities.

Thus the process and evaluation of genetic testing requires that CDC and other HHS agencies interact with health care practitioners, public health professionals, laboratory personnel, the general public, and affected consumers. Together, these partners will determine the quality of:

• Pretest counseling and informed consent procedures.
• Test specimens and the security of these specimens.
• Accuracy of analysis.
• Communication of test results to clients.
• Test interpretation.
• Counseling of clients about treatment options.
• Ensuring the confidentiality of test results.

Standards and guidelines

The second main set of activities in the genetic testing program component concerns the development of standards, regulations, and guidelines to ensure the accuracy, validity, and precision of laboratory procedures and to ensure that other quality assurance issues are addressed as well.

All clinical laboratories in the United States that provide information to referring physicians are certified under the Clinical Laboratory Improvement Act (CLIA) Amendments of 1988 (CDC 1992). CLIA standards for quality control, proficiency testing, personnel, and other quality assurance practices apply to all genetic tests. The CLIA regulations, which are jointly developed and administered by the Health Care Financing Administration and CDC, include additional specific requirements for cytogenic testing. The NIH-DOE Task Force on Genetic Testing recently recommended the creation of a genetics subcommittee of the CLIA Advisory Committee to help consider more specific requirements for molecular genetic testing, as well as other improvements and changes as needed.

CDC can also lend its considerable experience in developing model quality assurance programs, including proficiency testing programs in genetic testing in public health programs such as the Newborn Screening Quality Assurance Program (see box). These model programs would set standards for testing, monitor the quality of testing, and recommend improvements for laboratory quality assurance. Through workshops, training, consultation, the development of guidelines, and technology transfer, CDC, in collaboration with other HHS agencies, can work with quality assurance programs operated by state health departments, professional organizations, and public health agencies to ensure high-quality results from all laboratories involved in genetic testing. CDC can draw on its experience from the Model Performance Evaluation Program, the National Laboratory Training Network, and the publication of recommendations, guidelines, and standards for laboratory practice (generally as supplements of CDC’s Morbidity and Mortality Weekly Report).

The Task Force acknowledges the proficiency testing program that is run jointly by the American College of Medical Genetics (ACMG) and the College of American Pathologists (CAP), as well as CAP’s Laboratory Accreditation Program, both of which are designed to improve the quality of genetic testing. Through regular discussions with these organizations, the role of CDC in quality assurance will be carefully delineated in order to avoid unnecessary duplication of activities.

Since 1978, CDC and its cosponsors, the Health Resources and Services Administration and the Association of Public Health Laboratories, have conducted research on materials development and assisted laboratories with quality assurance in an effort to screen newborns for treatable, inherited metabolic disorders. The program aims to improve the comparability of laboratory results and to standardize the laboratory procedures that use dried blood spot samples for neonatal screening. The program currently serves 78 domestic screening laboratories and 92 laboratories in 28 foreign countries.

Component 3: Intervention development, implementation, and evaluation

The translation of advances in human genetics into disease prevention opportunities occurs through this program component. As specific genotypes are associated with the development of disease or disability, interventions may be introduced into the health care system, such as the managed care setting, to promote health and reduce the morbidity and mortality from conditions associated with selected genotypes. The role of public health will be to develop strategies for such interventions, implement pilot demonstration programs and evaluate the impact of interventions on reducing morbidity and mortality in the population.

Development

In deciding whether to develop such interventions, several considerations must be taken, including:

• The likelihood of subsequent ill health given the presence of a particular genotype.
• Whether the means for detecting the genotype are valid and cost-effective.
• Whether modification of risk factors can reduce the risk for disease or disability among people who carry specific genotypes.
• Whether interventions can be made available to the people who need them.
• Whether interventions are supported by multiple partners and the public.

Collaboration is particularly important to the design of intervention programs. Key partners are essential to identifying potential ethical or legal concerns, policy constraints, or design flaws. Such flaws might stem from an incomplete understanding of the people to be served and their attitudes toward the accumulation and use of genetic information. Involvement of both consumers and behavioral scientists is important to understanding how potential clients assess risks and benefits, what factors affect clients’ compliance with proposed interventions, how to train genetic counselors to deliver these interventions, and how to monitor services.

Implementation

For population-based intervention programs and demonstration projects to be implemented, the infrastructure for program delivery must be in place or developed. Efficient development of this infrastructure calls for coordination of resources, funds, and activities for:

• Training, education, and certification for laboratorians, clinicians, genetic counselors, and other public health personnel.
• Providing laboratory reagents, standards, certifications, or quality assurance programs.
• Developing guidelines for delivering interventions and counseling clients.
• Ensuring that consumers have access to diagnostic tests and treatment.

Evaluation

As genetic tests and services are incorporated into the health care system, evaluation criteria will be developed and applied to determine whether interventions are having the intended effect and which components contribute most to overall effectiveness. Epidemiologic follow-up studies will evaluate intervention impact and outcome indicators–that is, ascertain how effective population-based interventions are in reducing morbidity and mortality, as well as determine whether genetic tests result in loss of insurability, discrimination, or stigmatization. Such studies would also be able to identify gaps in the delivery of and people’s access to interventions. Prevention effectiveness studies can evaluate the economic and social impact of interventions and compare alternative initial testing strategies and intervention strategies. Such studies may be particularly important to informed decision making about who should obtain genetic tests and services. For example, post-intervention information may be needed on whether strategies recommended for the general population are appropriate for subgroups whose genetic composition increases their risk for selected conditions. Effectiveness studies might also compare results by test types (for example, DNA-based tests versus biochemical tests) and communication strategies (for example, specific genetic counseling versus general education).

For genetic interventions, evaluation criteria may also be used to assess confidentiality, potential discrimination against people and groups with specific genetic conditions, and to ascertain public perceptions of intervention programs. Although these issues are not always included in evaluation criteria, recent CDC experience with similar issues surrounding HIV prevention programs suggests that evaluating these factors and regularly incorporating the results into intervention activities can increase community support for programs.

Component 4: Communication and information dissemination

The fourth program component concerns the development and application of a comprehensive and coordinated plan for communication between CDC, health professionals, and the general public about advances in human genetics; the use of genetic tests and services; interventions; and the ethical, legal, and social issues related to these topics.

The full scope of such an overarching, multi-year activity can be only hinted at here since the delivery of effective communications will in itself require the development of a strategic plan. Elements of this plan will specify methods for assessing audiences, developing messages, and selecting media for dissemination of messages.

Early on, however, CDC must gain a baseline understanding of both professional and consumer perceptions of and attitudes toward the recent developments in and future expectations for human genetics. This information must be sought from both consumers and professionals and must be immediately reflected in all CDC’s activities in genetics and public health so that those activities are not misunderstood by CDC’s partners or the public, but rather gain acceptance. Such acceptance would position CDC as a reliable, credible, and trustworthy agency guarding the public interest and recommending the sound and ethical use of new genetic technologies and interventions.

Because the subject of human genetics can be sensitive, effective communication will be key to the success of public health programs involving genetic research results. This could be achieved by building an informal coalition which includes other HHS agencies, professional organizations, consumers, private industry, and state and local health departments to develop and evaluate communication strategies for genetics and public health. Effectiveness of communication will hinge on many factors, including:

• How well communication strategies are coordinated among the various groups.
• Whether the appropriate audiences are targeted to receive messages that result in health promotion and disease prevention.
• Whether the content of messages is accurate, at the appropriate level of technical detail, and conveys the benefits (if any) of genetic testing in a culturally appropriate manner.
• Whether the appropriate mix of media is used for disseminating information.

Particular attention must be given to the audience of health professionals, such as primary care physicians and nurses, who will often serve as a conduit for information and who can help shape widespread attitudes and behaviors. CDC will need to facilitate the sharing of scientific information among health professionals to help ensure that they have timely access to accurate information. Mechanisms such as distance-based interactive meetings, information centers, and electronic communication will be explored.

Critical Issues

Issue 1: Partnerships and coordination

The translation of genetic advances into public health action requires an infrastructure that not only supports multiple activities, but also encourages coordination among many partners.

Partnerships

Many public and private agencies are already involved in a wide variety of genetics issues and activities. As CDC expands its work in applying human genetics in health promotion and disease prevention, developing and enhancing collaborative relationships with these public and private partners is critical. These partnerships can (1) improve the quality of CDC’s work by incorporating multiple organizational and consumer perspectives and (2) help identify and eliminate duplication of effort.

Partnerships within the Department of Health and Human Services and other federal agencies (such as the Department of Energy, a major sponsor of the Human Genome Project) can be accomplished through coordination of activities, joint funding arrangements, and memoranda of understanding. The Task Force acknowledges, in particular, the leadership of the Maternal and Child Health Bureau (MCHB) of the Health Resources and Services Administration (HRSA) that has been instrumental in sponsoring maternal and child health genetic services at the state, regional, and national levels. CDC will continue to work with MCHB in applying surveillance and epidemiologic methods to evaluate the impact of programs on the health of mothers and children. At the state and local levels, partnerships can be established with various officials (including state genetics coordinators, state epidemiologists, chronic disease epidemiologists, and state health officers) and with the organizations representing state groups regionally and nationally (including the Council for State and Territorial Epidemiologists and the Council for Regional Genetic Networks). Partnerships with professional and private organizations, such as the American Society of Human Genetics, the American Public Health Association, and the National Society of Genetic Counselors, can also be established. Structures such as the Health Promotion Disease Prevention Research Center Program (in which academic research centers collaborate with genome research centers to identify research findings that can be translated into public health practice) may be used as a model.

Some partnerships may not involve the transfer of funds but rather the sharing of information. CDC must rely on external sources, including consumers and expert consultants, for input and feedback on the use of genetics in health promotion and disease prevention. Such consultation, which may be achieved through advisory committees, working groups, and meetings, can help ensure that CDC’s activities complement and build on advances in genetic knowledge and technology, and that the general public and affected target groups accept these programs. The nature and extent of external input will vary according to the programmatic priorities in the different centers, institutes, and offices.

Coordination

Current activities in genetics at CDC are diverse and distributed among different organizational units. As activities expand in response to advances in genetics, the competition for resources and the potential for duplication of effort may increase as well. Yet many of the products suggested for each program component can be shared by multiple organizational entities–in fact, to be successful, some products such as community interventions and messages must be coordinated among activities.

Because rapid advances in genetics research will impact multiple programs within CDC, CDC needs to coordinate, prioritize, and encourage internal collaboration on activities in public health and genetics. Through a coordinated focus on genetics, professionals representing the many disciplines required for these activities can provide services CDC-wide. These services can include:

• Coordinating genetics activities throughout CDC and ensuring that these activities are consistent with the policies and priorities of the Department of Health and Human Services.
• Developing guidelines for setting scientific and programmatic priorities in public health genetics.
• Assessing overall needs for professional expertise and capacity in public health genetics.
• Establishing liaisons and partnerships with external agencies, organizations and constituencies.
• Coordinating workshops on cross cutting critical issues involving multiple programs.
• Identifying information resources in genetics.
• Developing communication strategies.

The personnel assigned to facilitate this coordinated focus might also provide technical expertise for designing new methodologies, developing policies and recommendations, conducting training, and disseminating information. At a minimum, this coordinated focus should ensure that CDC can provide public health leadership in genetics.

Issue 2: Ethical, legal, and social issues

Most areas of health research and practice involve issues of individual autonomy, including privacy, confidentiality, and informed consent. When the use of genetic information becomes involved, however, these and related issues become particularly complex, sensitive, and problematic. Information about a person’s genotype can provide unprecedented knowledge about his or her health status and that of his or her family. Having this information can provide individuals and organizations with power that can be used for beneficial purposes, such as health promotion and disease prevention, or for practices that are discriminatory, such as withholding health insurance or rejecting candidates for jobs. What constitutes misuse of genetic information is, however, not clear cut in our society; what is clear is that the possible use of genetic information raises a host of ethical, legal, and social issues, many of which invoke fear and mistrust (Hubbard and Lewontin, 1996; Garver and Garver, 1994).

Activities in all program components proposed in this strategic plan must not only demonstrate our awareness of these issues but also our readiness to address them. Below are several examples of issues that must be considered:

• In designing studies–that is, choosing disease outcomes, populations, and data to be collected–researchers must be sensitive to perceived or actual practices that could result in the misuse of information.
• In developing guidelines for genetic testing, program personnel must establish stringent mechanisms for protecting the privacy of individuals and the confidentiality of test results.
• In designing CDC’s plan for communication in genetics, communication specialists must anticipate negative attitudes and beliefs and provide information that promotes understanding and allows for informed decisions.
• In outlining the content of professional training, instructional designers must consult with specialists in bioethics to ensure that ethical, legal, and social issues are incorporated into public health curricula.

To equip CDC for addressing these issues, we need to build in-house expertise in the bioethical ramifications of genetics, although that expertise would necessitate interaction with external sources, including NIH’s Ethical, Legal, and Social Implications Program, advisory committees, and diverse professionals convened at specialized conferences. Sources for gaining insight into consumers’ perspectives are also needed.

CDC must also address ethical, legal and social issues associated with the use of genetic information by keeping abreast of and advocating for policies, procedures, regulations, and other legal mechanisms that can provide some guidelines (see Appendix I). However, such questions must be continually revisited and the regulatory framework repeatedly adjusted to allow for, prohibit, safeguard, or otherwise control activities in human genetics. Further, many existing laws and regulations should be reviewed for their applicability to the bioethical issues of human genetics.

Issue 3: Education and training

Although many health promotion and disease prevention activities that use genetic information have been ongoing for some time, the field of human genetics continues to expand rapidly. This expansion strains the ability of groups such as public health researchers, health practitioners, policymakers, medical students, and consumers to keep abreast of new information and its potential ramifications. Therefore, systematic and ongoing education and training are needed in order to provide varied audiences, especially public health professionals, with the knowledge and skills necessary to transform the proposed program components into ongoing public health activities. The task force supports the recent development of the National Coalition for Health Professional Education in Genetics, which is led by the American Medical Association and the American Nursing Association and which has representatives from numerous organizations. CDC has an active partnership with this coalition and will continue to emphasize public health perspectives in genetics training.

To accelerate training in genetics and public health for public health professionals, training specialists might research current and upcoming educational opportunities sponsored by various agencies and organizations. The content of courses, workshops, and other educational formats can be assessed and supplemented by new or revised curricula or course work. For example, training for laboratory personnel will need to cover new genetic tests and reagents and may result in recertification of these professionals.

Training modules that address each component of the proposed framework (public health assessment and evaluation of genetic testing, interventions, and communication) will need to be incorporated into training for the Epidemic Intelligence Service. Curricula for public health, medical, nursing, and law schools will need to be adapted so that as new professionals enter the workforce they will have already attained a minimum level of competence in not only genetics and disease prevention but the ethical, legal, and social issues related to it.

The general public will need to be similarly educated so that they become informed consumers of professional services and remain alert to any potential misuse of genetic information. In addition, incorporating information on genetics into the life science curricula of elementary and secondary schools will help prepare the next generation of adults to respond to advances in genetic technology. Moreover, people who will develop the content of courses and communicate with the different audiences will themselves need to become conversant with concepts, terminology, and issues in genetics and have sources available for continual re-education.

To facilitate the rapid transfer of new information, we may need to use mechanisms that go beyond those generally used in standard training. These mechanisms may include providing educators with online access to curriculum modules; establishing relationships with partners, such as prevention research centers, whose own network of partners reaches far into communities; and sponsoring fellowships and residency programs focused on the potential use of genetic technology in preventing disease.

Thus the content, format, length, medium, and other aspects of training will vary markedly by audience and purpose. To ensure that all aspects of this multifaceted education and training endeavor are appropriately addressed, we may need to design an overall plan and then allocate its elements among the program components.