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 Journal Publication

This article was  published with modifications in Public Health Reports Jan-Feb, 2001 issue.


THE ROLE OF STATE PUBLIC HEALTH AGENCIES IN GENETICS AND DISEASE PREVENTION:  RESULTS OF A NATIONAL SURVEY
(print version)

by Margaret A. Piper, PhD, MPH; Joann M. Lindenmayer, DVM, MPH; Eugene J. Lengerich, VMD, MS; Kenneth A. Pass, PhD; Wayne G. Brown; Wendy B. Crowder, MPH; Muin J. Khoury, MD, PhD; Timothy G. Baker; Michele A. Lloyd-Puryear, MD, PhD; Jacalyn L. Bryan, RN, MS, CIC

Dr. Piper was a Staff Epidemiologist with the Council of State and Territorial Epidemiologists (CSTE) while conducting this work; she is currently a Senior Consultant with the Technology Evaluation Center of the Blue Cross and Blue Shield Association.  

Dr. Lindenmayer is a member of CSTE and a Chronic Disease Epidemiologist at the Rhode Island Department of Health. Dr. Lengerich is a member of CSTE and a Chronic Disease Epidemiologist at the North Carolina Department of Health and Human Resources while conducting this work; he is currently an Associate Professor in the Department of Health Evaluation Sciences, College of Medicine, Pennsylvania State University.  

Dr. Pass is the Director of the Laboratory of Newborn Screening and Genetics Services, Wadsworth Center, New York State Department of Health.  

Mr. Brown is a Consultant in Applied Epidemiology and was under contract with CSTE for this project.  

Ms. Crowder (Public Health Prevention Specialist), 

Dr. Khoury (Director, Office of Genomics and Disease Prevention), and Mr. Baker (Deputy Director, Office of Genomics and Disease Prevention) are with the Centers for Disease Control and Prevention.  

Dr. Lloyd-Puryear is the Director of the Genetics Branch, Maternal and Child Health Bureau, Health Resources and Services Administration.  

Ms. Bryan is the Deputy Director for Policy and Programs, Association of State and Territorial Health Officials.

Corresponding author:  Joann M. Lindenmayer, DVM, MPH; Rhode Island Department of Health; Cannon Building; Three Capitol Hill; Providence, RI   02908-5097; 401-222-1394 x116

Key words:  Genetics, Hereditary Diseases, Public Health, Prevention, Needs Assessment, Public Policy, Assurance


bullet Synopsis
bullet Introduction
bullet Methods
bullet Results
bullet Discussion
bullet References
bullet Table 1
bullet Table 2
bullet Table 3
bullet Figure 1
bullet Figure 2

Synopsis

Objectives
The onset and severity of the  clinical expression of most diseases that are of public health importance are influenced by genetic predisposition. The ability to assess human genetic predisposition for many diseases is increasing rapidly.  Therefore, state public health agencies should incorporate new developments in genetics and disease prevention into their core functions of assessment, policy development, and assurance.  We assessed the status of this process.

Methods
The Council of State and Territorial Epidemiologists surveyed states about projects and concerns related to genetics and public health activities. Respondents were the Health Officer, the Maternal and Child Health/Genetics Program Director, the Chronic Disease Program Director and the Laboratory Director. Where applicable, responses were categorized into assessment, policy development, and assurance functions.

Results
Thirty-eight (76%)state health departments responded.  Ongoing genetics activities were assurance (82%), assessment (17%) and policy development (2%).  In contrast, Health Officers’ responded that future genetics activities would be distributed differently: assurance, 41%; assessment, 36%, and policy development, 23%.  Future assurance activities would be largely educational. Topics of interest and recently initiated activities in genetics were primarily assessment functions.  Funding was the greatest concern, followed by lack of proven disease prevention measures and outcomes data.

Conclusions
State health departments recognize a need to realign their activities to meet future developments in genetics.  Lack of adequate resources, proven disease prevention measures, and outcomes data are potential barriers.  Strategic planning is needed by public health agencies to meet the opportunities associated with the development and implementation of genetic tests and procedures. factors.

Introduction

Within the next three to five years, the base sequence of all of the genes of the human genome will be known.  Consequently, efforts to identify disease-associated gene variants and describe the influence of the environment on genetic variation are proceeding at a rapid rate; tests to identify asymptomatic individuals with genetic predisposition to particular diseases will continue to proliferate. Once the risk factors that determine disease expression are clarified, clinical and behavioral interventions, and environmental modifications may be developed and appropriately targeted to those with genetic predisposition to disease (1).

Advances in genetics will need to be integrated into public health disease prevention and control activities, which can be categorized into the core public health functions of assessment, policy development, and assurance (2).  Assessment functions identify health problems, identify health resources and evaluate their effectiveness, and present the results to decision makers.  Policy development uses the scientific knowledge base in planning, priority-setting, allocating resources, and decision-making.  Assurance functions provide services necessary to achieve agreed-upon goals.  In the context of these core functions, government agencies are considering their role in genetics and disease prevention.  The Centers for Disease Control and Prevention (CDC) recently developed a strategic plan for translating advances in human genetics into public health action (3), and established the Office of Genomics and Disease Prevention.  The National Institutes of Health and Department of Energy (NIH-DOE) Working Group on the Ethical, Legal, and Social Implications (ELSI) of Human Genome Research developed guidelines to promote safe and effective genetic testing in the United States (4).

Many state health departments have active and successful newborn genetic screening and other genetic disease prevention programs. However, the scope of such programs is typically limited to diseases related to maternal and child health (MCH); only a few states have developed strategic plans that include a genetic focus in chronic, and environmental and occupational diseases (5). The Health Resources and Services Administration (HRSA) has recently established an initiative to fund 10 states to develop state genetic plans that encourage an overarching approach to genetics in state health departments.

To assist state health departments in developing their  capacity for translating genetic advances into public health activities, the Council of State and Territorial Epidemiologists (CSTE), a professional organization of epidemiologists practicing at the state and territorial public health level, in collaboration with the Association of State and Territorial Health Officials (ASTHO), implemented the Genetics and Public Health Assessment Project in 1998, the results of which are reported here.  The goals of the project were to survey state health departments in order to:  obtain information about state programs and activities related to genetics and disease prevention; assess key issues and concerns for incorporating new genetic information into public health activities; and communicate findings to the public health community.

The authors who carried out or provided guidance and advice on this project represent several federal and state agencies, and professional societies who share a common interest in the expanding knowledge of human genetics, and a desire to help translate relevant information and genetic testing into public health programs.  CDC and HRSA programs have already been mentioned.  Several states have or are developing strategic plans for genetics.  For example, New York has enhanced and strengthened its laboratory permit system to include genetic testing, expanded its research program on human genetics, and begun integration of activities in the Chronic Disease Bureau with those of Maternal and Child Health.  CSTE and ASTHO have provided several educational forums in public health genetics for their membership, and are actively promoting activities in this area.

Methods

Survey Design
We designed a survey form to address issues in genetics and disease prevention within the core functions of assessment, policy, and assurance.  Focal areas included new and current activities related to genetics, areas of interest and issues of concern for incorporating genetic information in public health activities, future importance of genetics to programs, and resources for obtaining information about genetics (Table 1). The basic form was modified slightly for each of the following individuals:
            Health Officer/Chief Deputy (Form 1),

Director of MCH/Genetics Programs/Surveillance/Registries (Form 2),

Director of Chronic Disease Programs/Surveillance/Registries (Form 3), and

Laboratory Director/Laboratory Services Coordinator (Form 4).

Pilot Testing and Distribution
We pilot tested the survey  by telephone with eight state health department staff members, two in each of the above listed position categories.  Respondents answered each survey questions and commented on wording clarity and on the focus of the survey questions.  Based on these comments we made appropriate revisions and mailed revised forms to State and Territorial Health Officers on March 2, 1998 with the request that they be distributed to the individuals listed above.  One followup telephone call was made and data collection was suspended on June 18, 1998.

Evaluation of Responses
Questions required the respondent to either choose and answer from a set of responses on the questionnaire, or to provide short, free-text responses.  We categorized written responses into one of the core public health functions and into subcategories of those functions as follows:

      Assessment
            - Assessing medical & epidemiologic information regarding genetic disease & prevention
            - Assessing need for specific disease programs
            - Data collection activities, including surveillance and registries
     Policy

    
Assurance
            -  Education
Programs and services

Results

Response
Thirty-eight (76%) state health departments returned at least one form and 26 (52%) returned all four forms;  30 (60%) Health Officers returned Form 1, 35 (70%) MCH/Genetics Program Directors returned Form 2, 34 (68%) Chronic Disease Program Directors returned Form 3 and 31 (62%) Laboratory Directors returned Form 4.  No forms were received from territorial departments of health.

Per capita expenditure for health and hospitals did not differ appreciably among states that returned all four forms, states that returned at least one form, and states that did not respond ($206, $227, and $201, respectively; range for all states, $76-440) (6).  Thus, responding states represented all areas of the country and did not differ significantly from nonresponding states in terms of health expenditure.

Importance of Genetics and Disease Prevention in Public Health
Most respondents regarded genetics as “somewhat important” to “very important” to their activities in the next 5 years (Figure 1).  MCH/Genetics Program Directors rated the future importance of genetics  the highest, followed by Laboratory Directors, Health Officers, and Chronic Disease Program Directors.

All respondents listed their three most important (from a budgetary standpoint), ongoing departmental activities and noted, secondarily, whether or not genetics is or could be relevant to each activity.  Of all genetics-related activities, 17% were assessment functions (Figure 2; “Current”), primarily data collection (14%), and 2%  were policy functions.  Eighty-two percent  were assurance functions, 76% devoted to public health programs and services, and 6% for educating health professionals and the public.

Thirty-two  (91%) of 35 MCH/Genetics Program Directors reported new activities in genetics, compared to 18 (53%) of 34 Chronic Disease Program Directors  (Figure 2, “New activities”). Assessment activities included evaluating knowledge of genetics and disease prevention measures (21%) and developing and maintaining data collection programs (38%), such as birth defects registries.  New initiatives in policy accounted for only 5% of total responses.  New assurance activities were mainly educational programs, primarily focused on health professionals, whereas programs and services constituted only 14% of new activities.

Health Officers reported on the future role of state health departments regarding the incorporation of genetics and disease prevention activities into public health programs. Thirty-six percent of all responses were  assessment functions (Figure 2; “Future Role”); only 4%, however, were data collection activities.  The majority of proposed assessment activities concerned evaluating knowledge of genetics and disease prevention measures (16%), and evaluating the need for new programs and services (16%).  The policy function accounted for 23% of proposed activities.  Forty-one percent of responses were assurance functions, and these included programs and services (27%) and education (14%).

Areas of Interest and Concern Regarding Genetics and Public Health
All respondents reported on their specific areas of interest in genetics.  Those responses representing assessment functions (53%; Figure 2; “Interest”) focused almost entirely on evaluating knowledge of genetics and disease and prevention measures.  Policy and assurance (specifically education) functions were reported less frequently by all responders.

All respondents rated the significance of various “concerns” that could make it difficult to  incorporate advances in genetics into public health activities.  The most important concerns were the lack of funding, and of proven prevention measures  that could guide policy for diseases with a genetics component.  In addition, MCH/Genetics Program Directors were concerned with the knowledge base of the general public and of health professionals regarding how to use  genetic information. Chronic Disease Program Directors identified as concerns the lack of policies and standards to guide genetic testing as well as health professional’s knowledge base in genetics, Health Officers identified the lack of population-based data, and Laboratory Directors were concerned with access to counseling and followup.

Current Genetics and Disease Prevention Staff and Programs
Twenty-three of 29 responding Health Officers reported having a genetics coordinator.  Of these, most had postgraduate degrees and dedicated more than 50% of their time to genetics activities.  Most MCH/Genetics Program Directors indicated that expertise in genetics (i.e. clinical geneticists, genetic counselors, or consultants in genetics) was available to state health departments through contractual arrangements or was on staff (Table 2).

Department of health organizational charts generally showed existing genetic services  located in Maternal and Child Health (MCH) sections, several reporting levels distant from the Health Officer.  In addition,  MCH reported to the Health Officer through administrative lines different from those used by Chronic Disease or other departments that might be concerned with future genetic information and activities

Currently, genetics activities in state health departments center around MCH programs and include some or all of the following:  preconceptional counseling, prenatal counseling, prenatal testing, newborn screening, and service delivery to children with special needs (Table 3).

Laboratory Support
Approximately two-thirds of responding states provide direct genetic testing services, assess new tests for public health programs, and provide training to other laboratories.  Few states are currently performing DNA-based tests; slightly more than half of responding Laboratory Directors have or would fund the development of in-house expertise for DNA-based assays for genetic disease. Only three states currently provide training in DNA-based testing; eight others indicated that they will do so in the future.

Fewer than one-third of responding health departments regulate private genetic testing laboratories, license laboratories for testing, or plan to do so in the future.  Sixty percent of Laboratory Directors indicated that they believe existing regulations for laboratory testing are sufficient for DNA-based tests for genetic disease, whereas 31% indicated a need for additional regulation for this type of testing.

Sources of Information on Genetics
MCH/Genetics Program Directors,  then Health Officers reported the largest number of groups that influence their access to and use of genetic information.  In general, the types of groups most frequently cited were health department committee or working groups and formal advisory committees, and state medical societies or other professional organizations.  Health Officers and MCH/Genetics Program Directors also frequently cited nonprofit organizations.

For information sources from which they would seek further genetic information and experience, Chronic Disease Program Directors most often indicated other states, academia, federal institutions and the scientific literature.  MCH/Genetics Program Directors listed numerous other groups, including regional genetics networks, professional genetics organizations, and genetics-related web sites.

Discussion

All human disease is the result of interactions between genetic variation and the environment (broadly defined to include dietary, infectious, chemical, physical and social factors). Examples include phenylalanine and phenylalanine hydroxylase deficiency in PKU and iron intake and mutations in the HFE gene in hereditary hemochromatosis (7).   The task for public health genetics is to apply advances in genetics and molecular biotechnology to improving public health and preventing disease.

A framework for applying four essential public health functions in evaluating the relevance of gene discoveries to disease prevention and health promotion was developed as part of the CDC’s strategic plan for genetics and public health (3):

I.  Assessment:  Surveillance to determine the the population frequency of genetic variants that predispose people to specific diseases; the population frequency of morbidity and mortality associated with such diseases; and the prevalence and effects of environmental factors known to interact with given genotypes in producing disease. Epidemiologic studies to help understand disease etiology and to develop molecular diagnostics and services for disease prevention and health promotion.

II.  Long-term evaluation of genetic tests used in the prediction of genetic diseases to reevaluate policies and recommendations on their use; and the development of model quality assurance programs for genetic testing.

III.  Development of intervention strategies for diseases with a genetic component, implementation of pilot demonstration programs and evaluation of the impact of interventions on reducing morbidity and mortality in the population.

IV.  Developing and applying communication principles and strategies related to advances in human genetics, the use of genetic tests and services, interventions, and the ethical, legal, and social issues related to these topics.

While public health genetics has successfully focused on programs related to maternal and child health, increasing emphasis will be placed on evaluation and prevention of adult-onset diseases, involving new public health departments and staff.  The Genetics and Public Health Assessment Project attempted to raise the awareness of public health staff, including those working in the area of chronic disease, to the need to integrate genetics into public health functions, and to determine areas of interest, need, and concern for the task ahead.

We found that public health genetics is well-established in the area of maternal and child health and newborn screening as a result of decades of investment, and programs and services continue to expand.  Most responding state health departments employ genetics coordinators and also have access to trained genetics professionals. Not surprisingly, MCH/Genetics Program Directors rated the future importance of genetics highest, followed by Laboratory Directors, Health Officers, and lastly, Chronic Disease Program Directors.   This may reflect the fact that public health genetics is just beginning to affect the categorically distinct programmatic areas of chronic disease, and environmental and occupational health

State Health Officers’ descriptions of future health department responsibilities in genetics and disease prevention focused to a greater extent on assessment (36%) and policy functions (23%) than ongoing genetics activities (17% and 2%, respectively).  Similarly, among all respondents, assessment functions accounted for a large share (53%) of topics of interest.  Accordingly, recently initiated genetics activities tended to be in the assessment function.

These results suggest that in the future, the distribution of state public health activities in genetics will increasingly emphasize assessment and policy development.  Assessment is especially important for chronic and environmental/occupational diseases for which there are currently less well-defined, heritable components than for genetic diseases currently targeted by MCH.  Public health genetics programs may not be appropriate until assessment shows there is high disease prevalence or penetrance, or preventive measures that modify phenotypic expression of genetic components of disease.

In our survey, Health Officers indicate that futureassurance activities in genetics are more likely to consist of educational programs, in contrast to current assurance activities that consist primarily of specific MCH service delivery and prevention programs.  As knowledge in genetics is applied to other areas, policy and educational activities take precedence before service delivery and prevention programs can be considered.

Changing focus from assurance to assessment activities will require overcoming barriers noted by respondents.  Lack of funding for new genetics activities outside of MCH programs was the most important concern for all survey respondents. The HRSA initiative for the development of state genetics plans presents a new and needed funding opportunity that, while focusing on MCH, encourages a more comprehensive approach to genetics planning.

A second major concern was the lack of proven prevention measures and outcome data to justify testing for genetic determinants of chronic disease in population-based  public health programs.  Although many genetic determinants related to various chronic diseases have been described, additional information will be needed.

Not all states regulate  laboratory testing beyond minimum federal standards.  Because DNA-based genetic testing has potentially detrimental social consequences, additional regulation has been suggested by various regulatory and advisory agencies (4, 8).  The majority of Laboratory Directors in this survey did not regard DNA-based tests as sufficiently different from other types of tests to require additional regulation.  Although few states currently use or provide training in DNA-based assay formats, many respondents indicated interest in providing such services in the future.  New DNA-based testing programs may require the state health department to re-evaluate policy concerning state regulation of genetic testing. 

MCH genetics programs are well established in state departments of health; are expanding their programs in relevant areas of genetics and public health; and have access to information, communication networks, and expertise. To what extent can MCH genetics programs serve as models, and provide resources for, future chronic disease programs related to genetics?  According to the organizational trees provided, MCH genetics and chronic disease sections are widely separated on the reporting tree, and may not have established lines of communication.  MCH genetics programs focus on screening and individual followup whereas as current chronic disease programs are most concerned with population programs that focus on education and behavioral change.  Strategic planning and action for coordinating genetics activities in different disease areas within state health departments is needed.

Although the results of this survey are somewhat limited by the response rate, all DHHS Public Health Regions of the United States were represented, and nonresponding states did not appear to differ from responding states in per capita expenditure on health and hospitals.  Findings may also have been limited by the interpretation and categorization of text responses.

In summary, the results of this survey indicate that state health departments are becoming increasingly aware of new information in genetics and disease prevention and the potential for its public health impact.  To address the results of this survey, we recommend that state health departments adopt the following measures:

  • Develop a comprehensive strategic plan for genetics.

  • Increase funding for new areas in genetics.

  • Develop methods to share existing and future resources in genetics with all program areas.

  • Conduct early needs assessments; plan for policy and program development as new genetic information regarding specific disease areas and prevention measures becomes available.

  • Consider the need for state regulation of genetic testing in private laboratories; determine appropriate policy to prevent the undesired use of genetic test results; analyze new genetic tests for applicability to public health programs.

  • Improve the genetics knowledge base of health department.

  • Develop methods to share information among state health departments.

To support state activities, national organizations such as ASTHO and Affiliates, CDC, HRSA, and the American Public Health Association should establish policy statements regarding the effective use of relevant genetic information for health.  Such organizations can also help provide training in public health genetics and disease prevention and access to  the results of new research.  For example, CSTE has organized a policy steering group to define the role of epidemiologists in developing and supporting comprehensive genetics plans.  The Maternal and Child Health Bureau, HRSA, has initiated the formation of a national Newborn Screening and Genetic Resource Center to provide a forum for interaction between consumers, health care providers and researchers, organizations, and policy makers concerned with newborn screening and genetics.  CDC provides several training opportunities in genetics and disease prevention (9), and recently initiated a web site for highlighting recent developments in genetics and for presenting organized topic summaries in genetic epidemiology (10).  Jointly sponsored by CDC, HRSA, the National Human Genome Research Institute, and the ASTHO and Affiliates, the First Annual Conference on Genetics and Public Health was held in May, 1998.

References

  1. Austin MA; Peyser PA; Khoury MJ.  The interface of genetics and public health: research and educational challenges. Annu Rev Public Health, 2000;21:81-99.
  2. Committee for the Study of the Future of Public Health, Division of Health Care Services, Institute of Medicine. The Future of Public Health. National Academy Press, Washington, D.C., 1988.
  3. Khoury MJ and the Genetics Working Group.  From genes to public health:  Applications of genetics in disease prevention.  Am J Public Health, 1996;86:1717-1722.
  4. Promoting Safe and Effective Genetic Testing in the United States. Final Report of the Task Force on Genetic Testing, Edited by N. A. Holtzman and M. S. Watson. National Institutes of Health, Bethesda, MD, 1997.  Also available at www.nhgri.nih.gov/ELSI/TFGT_final/.
  5. Washington State Department of Health.  Genetic health care in Washington:  assessment of services and perceptions and establishment of a statewide plan.  Genetic Services Section, Maternal and Child Health, Community and Family Health, Washington State Department of Health, Seattle, WA,  December, 1997.
  6. Statistical Abstract of the United States. Government Printing Office, S/N 003-024-08825-8, Washington, D.C., 1997.
  7. Collins FS. Genetics: not just somewhere but at the very center of medicine. Genetics in Medicine 1998;1:3.
  8. Genetic Testing Workgroup. CLIAC Summary Report, September 16 - 17, 1998. Available at http://www.cdc.gov/phppo/dls/cliac0998.htm.
  9. Office of Genomics and Disease Prevention, Centers for Disease Control and Prevention, http://www.cdc.gov/genetics/Training.htm
  10. Khoury MJ, Dorman JS.  The Human Genome Epidemiology Network (HuGE Net).  Am J Epidemiol, 1998;148:1-3.  HuGE Net website, http://www.cdc.gov/genetics/hugenet/default.htm.
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