 |
|
STRATEGIC VISION
|
|
|
 Initiative: Focus resources on advancing centers of excellence: Center for the Study of Genomic-Environmental Interactions The Center for the Study of Genomic-Environmental Interactions will have a research thrust devoted to the characterization of the complex interactions of environmental and genetic factors responsible for the chronic diseases of Appalachia. The initial disease foci will be cancer and cardiovascular, because (1) they are the two most rampant regional maladies, (2) there is considerable federal funding available – i.e., NIH’s new $100M pilot for cancer genomics, (3) Marshall has extensive core capabilities from which to begin construction, and (4) Marshall has access to a unique and extremely valuable population. The value of this niche population extends beyond the obvious inheritance or genetic implications. Recent data1 suggest a person’s health is influenced by lifestyle effects (dietary, smoking, etc.) of past generations that appear to be sex specific and to cause semi-permanent changes in the germ line of the grandchildren. These “environmental epigenetic” changes are the result of chemical changes of DNA rather than direct mutations. Another element of the Appalachian population is its relatively low socioeconomic status. In a fascinating article in Scientific American entitled Sick of Poverty, Sapolsky2 points to an array of interesting inheritance problems of poverty which appear to challenge the common environmental explanations – i.e. lack of health care access, lack of health care utilization, and increased exposure to risk. From the available literature, he suggests that the pathogenesis of poverty is the result of chronic stress of “feeling” poor. The psychosocial stressors and behavioral habits of the stable, multi-generational, family-oriented population surrounding this university give us an enormous advantage to our pursuit of population genomics. The Institute’s genomics thrust takes advantage of the information made available through the Human Genome Project and a projected future demand for one’s personal genome and phenome (physical traits resulting from instructions encoded in the genome). Church3 describes this futuristic view of medicine as follows: “The ‘$1,000 genome’ has become shorthand for the promise of DNA-sequencing capability made so affordable that individuals might think the once-in-a-lifetime expenditure to have a full personal genome sequence read to a disk for doctors to reference is worthwhile.” The grand vision is personalized, predictive, and preventive health care and community health services in both medicine and public health. The science is well ahead of the associated myriad of social, legal, and ethical ramifications of providing the right public policies. “…the prospect of this new type of personal information suddenly becoming widely available also prompts worries about how it might be misused – by insurers, employers, law-enforcement agents, friends, neighbors, commercial interests or criminals.” 4 The Institute will be Marshall’s cornerstone center of excellence. It will provide foundational science supporting clinical centers in the School of Medicine – the translational research unit in the Edwards Comprehensive Cancer Center and the proposed new genomic medical center. The Institute’s genomic thrust can also lead to ecogenomics research - a new field which applies the tools of genomics, proteomics, etc. to ecology. For example, ecogenomics can describe the microbial community of the Ohio River – something Dr. Somerville has described as a worthwhile activity of the proposed Freshwater Institute. Finally, the legal and policy implications of genomics could be visionary elements of a new law school at Marshall. The Institute will be staffed by a core group of nationally competitive, basic investigators (geneticists, mathematicians, computer scientists, molecular physiologists, medical and environmental toxicologists, epidemiologists, etc.). With the right leadership, strategic grouping, and clinical exchange, this team will identify the complex relationships between the human genome and the Appalachian environment - dietary, water, air, and personal behaviors. The following is a review of “The Seven I’s” – criteria used to guide the justification of this proposal. I. Improvement. This Institute will improve Marshall’s revenue base through increased extramural grant and contract funding. The new faculty will bring competitive grant funding and increase the funding of Marshall’s junior faculty by serving as mentors and senior collaborators. By hiring faculty with entrepreneurial interests, Marshall will also increase royalty and equity income from intellectual property commercialization. Finally, a genomics emphasis has the potential to spill over into regional economic development. A genetic diagnostic clinic, like the Greenwood Genetic Center (GGC) in South Carolina (http://www.ggc.org/index.htm), could bring Huntington hospital(s) and the University together to provide molecular genetic diagnostic services, genetic counseling, research and education to the region. Founded in 1974, the history of the GGC describes how a good idea grew into a state-wide resource. (The nearest genetic diagnostic center appears to be at Cincinnati Children’s Hospital - http://www.cincinnatichildrens.org/svc/alpha/h/genetics/default.htm.) The genomics approach of the Institute can also undergird an interdisciplinary public health degree program that trains undergraduate, medical, and graduate students to integrate the legal, social, medical, environmental, and ethical considerations into effective public health policy, not only for West Virginia but for the greater Appalachian region. The new field of public health genomics has been recently described: “To date, most of the benefits of advances in genomics have been cast in individual terms, focusing primarily on clinical decision making, health care policy, and bioethics. There is, however, another important aspect of genomic science that has the potential to powerfully affect the health and well-being of populations. Known as ‘public health genomics’, this emerging field assesses the impact of genes and their interaction with behavior, diet, and the environment on the population’s health. The promise of public health genomics is to have practitioners and researchers accumulating data on relationships between genetic traits and diseases across populations, to use this information to develop strategies to promote health and prevent disease in populations, and to more precisely target and evaluate population-based interventions. Public health genomics is an exciting, multidisciplinary field that brings all the public health sciences to bear on the emerging challenge of interpreting the significance of genetic variation within populations and applying that knowledge in order to improve the health of the public.”4 The three areas of research supporting public health genomics are genetic risk identification, genetic risk characterization and genetic risk reduction.
II. Investment. This proposal invests in people who will be attracted by a coherent and innovative institutional strategy accompanied by state-of-the-art facilities and profound public health applications in a unique underserved population. The facilities investment strategy includes buildings we have constructed, shell space we have to complete and a new building to construct. The Institute will be housed in the Biotechnology Science Center. Cancer genomics/proteomics, dietary aspects of cancer and other related genetic risk assessments can be conducted in the translation research space in the Edwards Comprehensive Cancer Center. The investment in this facility has been significantly reduced by the fact that the shell is already constructed. The final piece is a new Genomics Medical Center where genetic risk characterization and reduction research (and clinical medicine) will originate. The Institute can begin the process for creating masters and PhD programs in public health genomics. One innovative model is the Institute of Public Health Genetics at the University of Washington http://depts.washington.edu/phgen/ . “The Institute for Public Health Genetics at the University of Washington has developed both masters of public health (M.P.H.) and doctoral (Ph.D.) programs to begin preparing the public health workforce in genetics. The institute’s mission is to provide broad, multidisciplinary training for future public health professionals, to facilitate research and public health genetics, and to serve as a resource for continuing professional education. This multidisciplinary training program has three major components, described below, and the courses are taught by faculty from 12 different departments, located in seven different schools and colleges at the University of Washington. The first major component of the program is referred to as the ‘fundamental areas of study.’ This component includes human genetics, genomics, population genetics, and molecular biology, as well as the core public health disciplines of epidemiology, biostatistics, environmental health, health services administration, and social and behavioral sciences. The second major component is ‘genomics in public health’, which includes genetics; molecular epidemiology; ecogenetics, the study of gene/environment interactions; and pharmacogenetics. The final component of the program is an area called the ‘implications of genetics for society’, which includes ethics and social science, law and policy, and health economics and outcomes research.”4 Marshall will have to grow its public health program from existing capabilities. It can be housed in the School of Medicine (Department of Family and Community Health) capitalizing on existing faculties and its community-based hospitals and centers (Forensic Science Center, Edwards Comprehensive Cancer Center, and RCB Center for Rural Health) and network of rural clinics. The multidisciplinary nature of genomics reaches well beyond the medical field. Other institutional contributors would be College of Science (DNA structure and function, environmental scientists and mathematicians), College of Health Professions (new emphasis in nutrition), CITE (environmental engineering and computer sciences), COLA (geography, political science, psychology, religious studies, and sociology/anthropology), CEGAS (environmental engineering), CBER (cost effectiveness of new public health strategies), CSEGA (Appalachian culture), and the WV Prevention Resource Center (defining the substance abuse culture of WV). There is a need for considerable growth in (1) Marshall’s informatics (bio-, medical, and environmental), (2) in epidemiological expertise and (3) the creation of a law school. Ultimately, this genomics strategy would require extensive coordination with WV DHHR and its Bureau of Public Health. One of the primary conclusions of a recent national workshop on the subject suggested that the current public health system is unprepared for the “brave new world” of genomics. “Genetics underlies the essential services and functions of the public health system, it pervades everything done in public health, and it cannot be ignored. The heterogeneous public health system is, unfortunately, not organized to accomplish goals in genomics and public health; it is not tailored to providing essential services to the population in an equitable fashion.”4 One of the most significant advantages of this Institute is that it will increase Marshall’s opportunities to expand and intensify collaborations with other West Virginia institutions building on existing INBRE, COBRE, and NSF EPSCoR programs. The Institute will significantly advance Marshall’s INBRE’s Appalachian Cardiovascular Research Network (ACoRN) – a multidisciplinary team of over 20 people from WVU Health Science Center, Charleston Area Medical Center, Fairmont State University, West Liberty State College and several rural health clinics. Drs. Niles and Flynn, MU and WVU leaders in COBRE cancer projects, are already discussing collaborative ventures. Since Marshall’s genomics capabilities exceed those at WVU and the latter has no systemic genomics initiative, a major genomics emphasis at Marshall will undoubtedly attract WVU investigators. In addition, the ACoRN initiative has taught us that advancing a genomics strategy will draw significant collaborators from out-of-state institutions. Finally, the next NSF EPSCoR grant is designed to increase the state’s nanotechnology initiative. Marshall’s role is to provide basic molecular targets and mechanisms for devices to be constructed at WVU. MU plans to hire two molecular biologists with primary skills in cell development and differentiation. These new talents can help define basic genetic and metabolic mechanisms that are altered in cardiovascular disease and cancer. III. Innovation/Inquiry. The symbiotic nature of public health genomics is so complete that our challenge will not be how to identify multiple innovative pedagogies but rather how to stage them for systematic growth. With the Institute as the cornerstone, STEM disciplines will offer the basic science that is ultimately translated into clinical applications and public health policies. These applications will be determined by a host of environmental, social, behavioral, ethical, legislative and legal issues, so the institution will be able to integrate a wide variety of expertise. (Just learning how to communicate across these disciplines will be a major benefit to the institution.) Because much of the required expertise and experience will reside outside academe, Marshall’s genomics strategy will necessitate real immersion of our faculty and students in the community at large – rural and urban, industrial, social and governmental agencies, etc. The opportunities for visionary community-based capstone research and student internships will increase dramatically. The relevance of genomics affords almost unlimited expansion of student opportunities to participate in inquiry-based research, inventive pursuits, and/or creative work. Childs, et. al.5 points out that genetics is the basis for the science of the individual, or individuality. Well beyond the clinical implications, genomics addresses the truly fundamental question, “Who am I?” As such, it brings a promising new dimension to this age old question. It will begin to determine what portion of an individual’s physical and emotional character is a product of inherited chemistry? It asks how much of one’s inheritance can be modified and what should guide these choices. I suggest that some of the most critical inquiry of the 21st century will be based on its genomic revelations. IV. Initiative. By virtue of the complexity of genomic data, the creation of a major center at Marshall will give this institution an opportunity to form strategic partnerships with research 1 universities. As previously mentioned, Duke University’s Center for Human Genetics willingly affiliates with Marshall’s ACoRN program. Their original interest and exceptional support gave them access to another Appalachian community. The size of the database necessary to draw meaningful judgments with complex diseases mandates that research centers pool their respective collections. Another question facing all genomics centers is the uniqueness of their population. With the establishment of a nationally competitive genomics center at Marshall, such collaboration will be viewed as beneficial to all partners. The opportunity for multi-center funding will increase accordingly. What we must do is establish the scientific creditability that will cause research 1 universities to seek us out. V. Integration. The research base of the Institute, coupled with strategic integration of existing disciplines, can bring Marshall a unique public health genomics program. Currently, the University of Washington’s Institute for Public Health Genetics is the only program in the U.S. that offers MPH and PhD degrees in public health genetics. It is a relatively new (MPH founded in 1997 and PhD in 2003) and small (5-6 MPH enrollees/yr; 2-6 PhD enrollees/yr) program and with only a limited number of MPH graduates. A recent report entitled Opportunities for Public Health Genetics Trainees: Results of an Employer/Workplace Survey, by Austin, et. al.6, suggests there are significant jobs available. In addition to those immediately entering the workforce, a number of the UW MPH graduates have undertaken more advanced training in genetic counseling, law, medicine and the UW PhD program in public health genetics. VI. Involvement. By definition, the applied nature of genomics research and public health programs will intensify meaningful faculty, staff, student and program connections and service with the community. The following elements must involve close interactions with the community and its public and private agencies.
VII. Inclusiveness. While the field of genetics was originally focused on the uniqueness of the individual, public health genetics is evolving to consider the larger community. In the past, genetics was primarily focused on discrete but rare diseases such as cystic fibrosis and Huntington Disease, diseases with high penetrance but relatively low prevalence in the population. Now, we are asking whether genomics can explain the causes of and responses to common chronic diseases that affect much of the population. With the growing capacity to impact entire populations, it is important to consider two issues of inclusiveness. The first is whether the benefits and burdens of population-based genomics will be distributed throughout society or only to the privileged few. The second challenge is to determine how Appalachian genomics make this population vulnerable to or a contributor to global infectious and chronic diseases. REFERENCES:
APPENDIX 1. The Centers for Disease Control and Prevention, Office of Genomics and Disease Prevention (CDC) contracted with the Institute of Medicine (IOM) to convene a committee that would plan and conduct a workshop on the implications of genomics for the public’s health. During the workshop, speakers were asked to discuss major scientific and policy issues related to genomics and public health, examine major supports for and challenges to the translation of genetic research into population health benefits, and suggest approaches for the integration of genomic information into strategies for promoting health and preventing disease. The CDC also requested that the IOM committee prioritize issues and approaches raised during the workshop. In response to the CDC, the IOM convened the Committee on Genomics and the Public’s Health in the 21st Century. Committee membership includes experts in genomics, epidemiology, pharmacology, social and behavioral health, public health, law, health care delivery, finance, and ethics. A workshop organized by the committee was held October 7 and 8, 2004, in Washington, DC. There were four panels that considered the following topics: the science of genomics, bridging genomics and public health, and gene–environment interactions; clinical use of genomic information, cost-effectiveness analysis, genomic information and behavior, and effecting population change; the public health system, international lessons, educating the public, and capacity; and data, financing and access, and legal and regulatory issues. The report of this workshop entitled Implications of Genomics for Public Health was compiled by the Board on Health Promotion and Disease Prevention. The following summarizes the workshop presentations and commentary. LESSONS LEARNED, PLACES TO GO James G. Hodge, Jr., J.D., L.L.M. The challenges identified during the workshop are significant and include those that are conceptual, legal, ethical, political, cultural, economic, organizational, and clinical. The presentations looked at these challenges through varying disciplinary approaches, including internal medicine, biochemistry, psychiatry, genetic counseling, public health science, public health practice, biotechnology, law, ethics, economics, philosophy, psychology, and sociology. The varying tools used for interacting and intervening at the intersection of public health and genetics include the principles of science, research, practice-oriented methods, education, counseling, law and ethics, economics, technology, and informatics. All of these come together at the intersection of public health and genetics. Interconnected factors must also be considered. Human genomics is significantly interconnected with proteomics, non-human genomics, and ecogenetics. There are also interconnected factors related to genomic information in general: nutrition and metabolism, the varying diseases and behaviors that people contribute to their potential susceptibility to a genetic condition, environmental exposures, and medications. Each of these factors must be systematically examined and understood in order to devise plans for connecting public health and genetics. Clinical medicine, public health practice, and pharmaceuticals are also relevant. A failure in any particular area or a lack of resources or lack of opportunity affects the other areas. Finally, within public health itself, interconnected factors include core services, surveillance and research methods, vaccination policy, testing, screening, epidemiological investigations, and education. Education is only as good as the surveillance accomplished. Research is only as effective as the information obtained through our epidemiological investigations. The interplay of factors is important. There are a series of critical observations and goals that pervade our collective disciplines that justify our tools and interventions. What is at present known about the science of genetics and genomics and proteomics and ecogenetics is quite impressive. We have made tremendous strides. However, what knowledge is needed to use genetics effectively to protect the public’s health remains uncertain. What is currently perceived as a good idea is identification of a single “biomarker,” an identified genetic susceptibility that may work or may benefit a particular individual. But that is not what is needed in terms of the future for public health. Multiple factors and multiple interactions must be examined. Understanding must come in terms of whole populations, not just one individual. What a few know concerning the potential for genetics in public health is what, in the future, others must know, especially those people who can benefit from the advances being made. Critical observation tells us that money can often influence objectives and interventions, but allocating resources to inappropriate or inefficient programs must be avoided. Resources must be allocated as equitably as possible. Genetic testing that is available to some because of wealth or insurance benefits should be available to all. Finally, the concerns of many individuals (e.g., protection of sensitive identifiable genetic information) must be addressed responsibly. With these multiple challenges, tools, interventions, observations, and goals, what must be done to develop meaningful plans and to translate possibilities into realities? We must assess our present knowledge, resources, and capacity. This workshop has provided key lessons in five major areas: genetic science; genetics and public health; genetics, information, and behaviors; public health infrastructure; and ethical, legal, and social issues. The genetic science lesson is that the genetics revolution has produced a wealth of new information. Scientific and technological advances in genetics, proteomics, comparative genomics, ecogenetics, toxicogenomics, bioinformatics, and computational biology have the potential to improve public health outcomes. How can the potential be marshaled? Causality is complicated; multifactor components underlie virtually all genetic conditions. Predicting the functional effect of various genetic sequences is critical, but again complicated. Additional research is essential to further identify and validate genetic variants. What key lessons have been learned about genetics and public health? One thing is to suggest that the framework for genetic risk assessment for population health research definitely requires three elements: risk identification, risk characterization, and risk reduction. Community-based participatory research can contribute to widespread knowledge and awareness. Progress is being made to identify and prevent gene–environment interactions with correlating benefits. Continued research, funding, and education enhance the ability of public health authorities to incorporate genetics into public health. Existing public health approaches to genetic diseases (e.g., population screening, universal diagnosis) can at times be inappropriate or inefficient. The ability to address these issues in a cost-effective way will be critical. In genetics information and behaviors, we have learned several key lessons. Primary care is critical to delivering genetic services to individuals and the population. These services are not, for the most part, going to be delivered through public health. The health care sector is an important partner in this endeavor. Furthermore, we lack the necessary information and research to make evidence-based decisions about the use of genetic tests. Cost-effectiveness analysis involving an assessment of opportunity costs can help determine whether a genetic intervention is either over- or underutilized. Lack of integration of genetic technologies into clinical and public health settings affects the cost-effectiveness of genomic medicine. Individual medical behaviors are the most important factors in public health improvement, and yet much remains to be learned about how to influence personal behavior. Linked, multi-part interventions are needed to promote positive behavioral changes. Genomics will expand the opportunities and widen the disparities. As Dr. Foege indicated, there will be unbelievable opportunities and unbelievable inequities. Our discussion of the public health infrastructure also brought forth some key lessons. Assuring the conditions in which people can be healthy is an objective of an ecological model for public health. Genetics underlies the essential services and functions of the public health system, it pervades everything done in public health, and it cannot be ignored. The heterogeneous public health system is, unfortunately, not organized to accomplish goals in genomics and public health; it is not tailored to providing essential services to the population in an equitable fashion. Biobanking offers significant benefits for understanding the contribution of genetic variation to health and disease, but the lack of harmonization and legal, ethical, and social complexities inhibit its full development. Public attitudes concerning genetic research are affected by public confidence, perceptions of utility, moral beliefs, and terminology. Furthermore, the capacity for public health genomics is closely tied to the competencies of the members of the public health workforce and academia. Significant genetic data collections arising from technology do not necessarily offer direct benefits for public health practice. Finally, financing for the provision of genetic tests and services is challenged by payer concerns and mindsets, as well as limitations in existing tests. There are important lessons about ethical, legal, and social issues for genomics and public health. Significant concerns exist regarding information privacy and discrimination. The protection of disease-specific groups and other vulnerable groups is not significantly addressed in laws. The HIPAA Privacy Rule, which applies to identifiable genetic data, allows public health authorities to collect such data for public health purposes. There are significant additional issues in genetic privacy, such as the duty to warn, that are increasingly being addressed through litigation. The recent statement by the Office of Human Research Protection (OHRP) exempting human subject research using coded data from the application of the Common Rule could lead to broader epidemiological research without adequate consent or oversight and could potentially undermine public trust. Laws can facilitate (and complicate) access rights of providers and patients to genetic test results. Fears of discrimination alone, regardless of realities, may sustain needs for affirmative antidiscrimination protections. Stratification invariably leads to distinguishing individuals from each other—the objective is to avoid invidious discrimination. Well, where does one go from here? What should be explored in the future? One key issue is to unravel the advances in genetic science and research to identify clear objectives for public health. The application of these advances must be enhanced for public health methodology and practice. Another major issue to explore is the assessment of infrastructure improvements that are essential to integrating genetics into public health. Additional issues include
There are several conclusions to be made from what has been presented during these past two days. First, the idea of benefits and risks pervades everything. What are the benefits and what are the risks? There are no easy answers, but there is methodology available to begin to provide answers. Second, there is the promise of genetics, and there is the reality. Realistic ideas for the future are needed. Third, there is the debate about exceptionalism. Should things be done in an exceptional manner for genetics or can lessons be learned from other legal frameworks, other ethical norms, and other public health sciences? Finally, the current status of the genetic revolution has been compared to the germ theory ideas of the early 1900s. Right now is the time, because of heightened public health awareness in this country, to marshal this revolution for the benefit of the health of the public. The opportunity exists to achieve the desired end: measurable improvements in public health outcomes through the use of genomics. |
Copyright ©2007 Marshall University. All Rights Reserved.
Read Site Disclaimer and Privacy Policy for more information.
1 (877) GO HERD 1 - One John Marshall Drive - Huntington, WV 25755
NCA Accredited institution of the WVHEPC. Advantage Valley proud member.
Read Site Disclaimer and Privacy Policy for more information.
1 (877) GO HERD 1 - One John Marshall Drive - Huntington, WV 25755
NCA Accredited institution of the WVHEPC. Advantage Valley proud member.