Implications of Genomics for Public Health Workshop Summary (2005) / Chapter Skim
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2 Workshop Presentations
Pages 3-60
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That end traditionally has been improving the health of individual patients through the use of genetics and family history for diagnosis, prognosis, and clinical interventions. Genetic testing and genetic information initially provided only modest but important benefits such as reproductive counseling and life planning.
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Ethical, legal, and social implications of public health genomics must also be considered. A penetrating inquiry about social justice is needed.
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Second, most common diseases arise from gene environment interactions; therefore, genetic advances are likely to extend and expand current practices in medicine, public health, and environmental protection. Third, some genetic variations are associated with greater health risks than others, and covering this wide variability with a onesize-fits-all genetics policy would be inappropriate.
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Another key support for translation of genetic research into population health benefits is the CDC-funded Centers for Genomics and Public Health. The leaders and staff in these institution-based centers have worked closely with the CDC to advance the whole field and are a major source of support for developing an effective public health workforce and infrastructure.
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Currently, attention is focused on identifying genetic variations and their accompanying disease susceptibilities. Regulatory laws should be used to advance the genomics research agenda.
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convene insurers, employers, consumer groups, and health professionals to resolve barriers to timely availability of affordable genetic services; (5) require that genetic services financed by the state are valid, reliable, and useful; and (6)
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How can this information be used to prevent disease, delay its occurrence, modify its severity, and/or develop specific therapeutic measures? In assessing the application of genomics to common diseases, there are four perspectives outlined below: the importance of genome sequence to identify genes, identifying functions of genes through comparative genomics, identifying disease genes/processes through large-scale association studies and transcript analysis, and proving function by chemical genetics.
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Thus, the genetic basis of complex common diseases, the specific environmental factors involved in each of them, and the molecular/chemical basis of these interactions will be important in developing populationbased approaches to disease control and eradication. BRIDGING GENOMICS AND POPULATION HEALTH Sharon Kardia, Ph.D.
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However, the emerging data have not yet provided sufficient explanations for the chronic diseases and infectious diseases that affect the population's health, nor have the data been fully applied to concerns about occupational health and health behaviors. In building bridges between these worlds, it is important to monitor our advancements in terms of an overall conceptual map of the intersecting continua of research and practice that affect the continuum between individual and population health.
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Preventative Services Task Force to inform medical and public health professionals about the level of confidence and the utility of genetic information. Support for translating genomics into improvements in the public's health requires development and support of an emerging public health genomics model.
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The risk assessment framework used in the environmental health sciences provides a useful template for creating genetic risk assessment standards in population health research. The three main areas of research needed fall into the categories of genetic risk identification, genetic risk characterization, and genetic risk reduction.
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Community based participatory research will provide health professionals with practical experience on the impact of genetics on people's lives and behavior, as well as important data on the effectiveness of genetic risk reduction in communities. Overall, the communitybased participatory research paradigm is important to explore as a strategy for health promotion, disease prevention, and individualized treatment of disease.
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Eaton: There is a distinction between single-gene disorders and complex disorders; a great deal of additional resources must
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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.
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Genomic or personalized medicine addresses individual risks based on family history and attempts to provide an individualized risk assessment. This approach can address genetic heterogeneity, look for stratification of disease in clear examples of gene mutations that have high specificity, screen by gene mutations, and treat based on a gene-specific defect.
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For example, there is little benefit to screen African Americans for Tay-Sachs disease or Ashkenazi Jews for sickle cell disease. However, newborn screening programs screen all newborns for hemoglobinopathies.
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Genetic testing needs to add value to what already exists. This is a problem with current proposals for testing for chronic diseases, such as heart disease and diabetes, for which adequate tests already exist.
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Key questions are proposed. There is a specific literature search strategy, a way of summarizing what is found, a way of assessing individual articles, making sure they are critically reviewed for quality, and then making an explicit link between the evidence and the rationale.
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The initial step would be to define a typology of genetic testing questions in clinical practice (e.g., reproductive counseling, prenatal testing, screening for risk or disease) with a goal of explicitly exploring, for each category, how these clinical scenarios systematically differ.
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This group could focus on questions likely to come up in primary care, develop an overall typology of questions, propose analytic methods, and make sure that communication and dissemination plans are well developed. That is, there should be some system for decision making, akin to the USPSTF, that can be used for genetic testing.
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Cost-effectiveness analysis might be used to address issues of genetic testing. In a perfect world of cost-effective analysis, a gene test would be developed and validated.
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How do people understand and use genetic information? Surveys about genetic testing for cancer found several factors associated with interest in testing, the same factors that are found in many behavioral studies of adoption of interventions.
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Theory-driven interventions to evaluate the impact of genomic information on short- and long-term behavioral outcomes are needed. It is important to understand how psychological characteristics influence behavioral change and how various risk factors and health-promoting behaviors interact.
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26 IMPLICATIONS OF GENOMICS FOR PUBLIC HEALTH examples include regulations on occupational exposure, pollution, and food safety. Sometimes the laws are direct (e.g., requiring use of seat belts)
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For example, the CDC evaluated the effect of direct to consumer and direct to provider advertising of genetic testing for breast cancer. The findings are both comforting and chilling; comforting in that there are not huge changes in purchase patterns, but chilling in that in a relatively short time one can see changes in the ways that women think about breast cancer genetic testing.
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It will take more than a few years to genotype every person in order to provide each individual with a card full of personal information. Furthermore, current clinical practice will need to change from the sevenminute primary care visit to incorporate the need for increased information collection, processing, and dialogue.
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There are companies that are marketing extensive genetic testing to individuals; some of this testing is legitimate, but some of it is highly questionable. When commercialization begins to influence public expectations about genetic tests, there should be concern.
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In the context of genetic research, the challenge of using this new knowledge to reduce health disparities has become even more intense and fraught with conflict. In part, this is due to the recognition of both the social and environmental underpinnings of health disparities and the demonstration of racial differences in the frequency of disease susceptibility alleles and alleles that alter response to treatment.
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These measures are likely to be much more informative while avoiding the problems of stigmatization and the racializing of disease. To the extent that genomics research can contribute to understanding how specific environmental and social factors intersect with genes in producing disease, genomics may offer both new levers for reducing health disparities and new frameworks for developing effective new public health interventions.
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The 1988 IOM report The Future of Public Health defined the mission of public health as "what we do collectively to fulfill society's interest in assuring the conditions in which people can be healthy." Although the IOM intended this mission statement to apply broadly to the involvement of multiple institutions and players that shape the population health, this presentation focuses on the role of official public health agencies at the local, state, and national levels of the public health system. The traditional way to think about the functions and activities of these public health agencies is in terms of the conditions with which they work and the risks they try to reduce: conditions such as infectious diseases, sexually transmitted diseases (STDs)
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We need to · Monitor: the prevalence of known genetic susceptibilities · Investigate: unusual results of geneenvironment interactions · Inform: the public about emerging genomic insights · Protect: the vulnerable against exposure and discrimination · Link: people to the genetic services they need · Mobilize: partnerships key to genomics understanding and action · Foster: appropriate, equitable application of genetic advances · Assure: a genomics savvy public health workforce · Evaluate: the quality and effectiveness of genetic services · Conduct research: to reveal the intricacies of the geneenvironment relationships that can be used to improve health for individuals and society The health of populations and of individuals is determined by the dynamics of events in five domains: genetic predispositions, social circumstances, behavioral choices, environmental exposures, and medical care. It is the province of public health, and only public health, to deal with all these domains.
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Such action will help us achieve the vision for public health genomics of a society in which understanding and effective public health action turn our knowledge about the intersecting influences on health to the benefit of healthy people in healthy communities throughout the nation. INTERNATIONAL LESSONS: BIOBANKS Bartha Maria Knoppers, Ph.D., with Clementine Sallée Research has advanced tremendously since the early 1990s, from rare single-gene disorders to common complex diseases, from national research to regional and international collaboration, and from traditional research biobanking to studies relying on Human Genetic Research Databases.
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From page 35... ...
, there is a move toward a coherent and comprehensive approach, for example, acknowledgment that HGRDs differ in important ways from traditional databases, including long-term storage and the consent process; identification of the limits of traditional personal data and privacy legislation; and a call for a regulatory framework that will protect participants while avoiding strict regulatory mechanisms. There is also an emerging consensus on some ethical principles such as the need to tailor traditional consent mechanisms to the specificity of databases; the correlation among the degree of data identifiability, the need to re-contact, withdrawal of consent, return of results, and access; the need for adequate ethical oversight from the inception of a database as well as monitoring mechanisms; the need to initiate, promote, and strengthen the professional/public dialogue; and the need to develop a benefit-sharing policy, that is, giving back to the community or population while opening the door to the possibility of commercialization.
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is an ethnic-based population HRGD that was developed to study the genetic variation of a particularly underrepresented ethnic group. There are also international population HGRDs such as the GenomEUtwin, which is building on existing twin cohort studies to analyze genetic and lifestyle risks associated with common physical and mental diseases.
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Early research about public opinion on genetic testing focused on a very narrow group of consumers of either genetic information or genetic products, or participants in research studies. What was learned is similar to what is known about risk communication in general: People have trouble with numeric expressions of risk, they assess risk very differently than do professionals, and they have different priorities and values from the medical genetics establishment.
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From page 38... ...
Furthermore, Hispanic Americans are much more likely to see genetic research as offensive to their religious beliefs, whereas European Americans are more likely to view the research as subject to government or corporate exploitation. Public opinion research found that three factors shape public attitudes toward genetic research: amount of confidence in regulatory agencies, direct perceived usefulness of technologies, and moral frameworks.
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In this model one relies on the media to cover the issue. Effective public education campaigns have been shown to include clear, specific objectives; targeted audiences; multiple channels; and adequate budget to ensure exposure to messages.
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, examined challenges to public health and developed a framework for how education, training, and research can be strengthened to meet the needs of future public health professionals. The report defined public health professionals as persons educated in public health or a related discipline who are employed to improve health through a population focus.
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Collectively, the importance of public health workforce capacity in genomics is understood. Our public health professionals are needed to shape programs and policies to improve population health; they must not lose sight of their responsibility for helping to keep the public healthier in the 21st century.
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In 1999, Michigan was asked to host the Third National Genomics and Public Health Conference. At about the same time, CDC asked the Michigan Department of Community Health to pull together some chronic disease specialists who would ponder the relevance of the human genome project to chronic diseases.
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Public education, however, has fallen short, primarily because public health professionals are still in the process of educating themselves. Ultimately, resources will be needed to be able to mount the kind of effort necessary to assure that genomics is used properly for the benefit of the public's health.
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After the decades and dollars funneled into genetic research, almost 97 percent of the mysteries would remain. With this realization setting the tone for the day, I resign myself to concentrating on a fraction of the problem." Professional societies must rise to the challenge of becoming more involved in advocacy training and advocacy oversight.
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Eight percent of geneticists spend more than one day a week teaching, and almost 80 percent spend some time teaching, which further limits the time available for genetic services delivery. Those whom they teach include medical students and residents, genetics residents and fellows, graduate students, practitioners, and the general public.
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There are many scientific issues related to using information resources to affect population health. Assuming it is possible to determine how to measure and store genetic and genomic information, the key question then is how can disease be modeled using these many different sources of information?
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One of the major scientific issues today is how to close the seemingly widening gap between data, information, and knowledge in order to translate research into public health benefits. A major challenge in using informatics to bring clinical, genomic, and protemic information together to translate into population health benefits is the lack of uniformity in the quality of the data.
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Self-reporting is a problem, but by developing some common mechanisms for recording information over a lifetime, it is possible to begin to determine how, for example, the risk of obesity or risk of smoking has differential effects at different times or at different ages. This will enable the linking of information to population health problems.
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. In summary, the public health infrastructure and public health professionals have begun to incorporate informatics principles and tools to monitor and improve the health of the public.
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. Selected population screening is also conducted, for example, TaySachs, sickle cell carrier screening, and screening for Down syndrome in pregnant women of advanced maternal age.
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Payers do not know what to do about genetic testing. They need a paradigm for screening that includes high relative frequency in the population, and they need easy, inexpensive, and reliable tests that can be performed on a blood spot or maybe a multiplex chip.
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Major problems exist in ensuring the appropriate use of genomic information. There is a long history of efforts to create guidelines for testing: the Watson/Holtzman committee of the mid-1990s; the Secretary's Advisory Committee on Genetic Testing (SACGT)
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At the same time, individuals' interest in using genetic tests has been dampened by fear they will suffer discrimination if they learn about their genetic makeup. Can the law require that people use genomic information for health promotion, for example, information about a susceptible worker who will be made sick by going into the workplace?
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We heard previously that public health professionals need training in genomics. So, too, do members of Congress, members of state legislatures, and other policy makers so that they can be better prepared to deal with the myriad complex and difficult issues facing the integration of genomics and public health.
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Of course the 45 million to 50 million uninsured will not have access to anything. The more health care costs rise, the more we are going to see a shrinking in the affordability of health insurance, resulting in an increase in the numbers of people without insurance.
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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.
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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.
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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.
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· Developing effective public education on public health genetics through specific objectives, targeted audiences, multiple channels, and sufficient exposures. · Assuring that the public health workforce and its partners are capable of using genomics in real practice settings.
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60 IMPLICATIONS OF GENOMICS FOR PUBLIC HEALTH 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.
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