© European Public Health Association April 2005; all rights reserved
Viewpoints |
Public health and genetics—a dangerous combination?
Angela Brand*Correspondence: Professor Dr Angela Brand MPH, Professor for Social Medicine & Public Health, German Center for Public Health Genetics (DZPHG), University of Applied Sciences, Kurt-Schumacher-Str. 6, D-33615 Bielefeld, Germany, Email: angela.brand{at}fh-bielefeld.de
‘It is clear, that the science of genomics holds tremendous potential for improving health globally... The specific challenge is how to harness this knowledge and have it contribute to health equity, especially among developing nations...’ This is a quote by Gro Harlem Brundtland, former Director General of WHO, which can be found in the year 2000 Report of the Advisory Committee on Health Research.
At the same time, Craig Venter, former president of Celera Genomics, stressed the significance of this issue at the occasion of a symposium about the future of public health at Harvard School of Public Health:
‘Three years ago the human genome–the ‘book of life’–was largely unknown. Today, anyone can read what it contains. Genomics is already providing fascinating insights into our species' evolution and clues to the some of the differences between individuals in susceptibility of diseases. The key question for public health, however, is whether it will improve the health of all of the world's people, or whether it will just widen the technology gap between rich and poor. Ask people what they understand of the potential of genomics for human health, and many will talk about an unprecedented opportunity to develop new drugs and vaccines. Others are concerned that the poor will gain nothing, while the rich will gain a kind of ‘boutique medicine’: the opportunity to buy a full analysis of their personal genetic makeup, and then purchase designer therapies. If genomics is to make a major impact on global health, it will have to help provide affordable population-wide tools for combating common diseases...’
Even though there are of course compelling reasons to think globally in terms of health and genomics, first of all, we have to act locally. We have to ask the question whether we are doing ‘the right things’ at the local level? Are our public health strategies evidence-based? Thus the European public health agenda demands a vision that reaches beyond the research horizon to arrive at application and public health impact. What is the role of genomics in this scenario?
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Diverging opinions |
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In February 2004 the first international symposium on public health genetics entitled ‘Public Health Genetics–Experiences and Challenges’ was hosted at the Center for Interdisciplinary Research (ZiF) in Germany, internationally well-known as a ‘think tank’ for interdisciplinary research. At this symposium contrasting viewpoints about the relevance of genomics for public health were presented.
In the opinion of Neil Holtzman, em. Professor of Genetics and Public Policy Studies at the Johns Hopkins Bloomberg School of Public Health, ‘... there is little need for further integration of genetic services and education into public health especially in countries in which public and private health services are dichotomized...’ Almost in contrast to this opinion Ron Zimmer, Director of the Public Health Genetics Unit at the University of Cambridge, stresses, that, although public health genetics is still in its infancy, ‘... rapidly advancing science and patient and public expectations require a strategic approach to the assessment, development and implementation of genetic services using all the skills of the public health practitioner. The development of policy for these services must start now, given the pace of genetic science, particularly in view of the need to educate and train a whole cohort of practitioners in the principles of genetics and molecular science. The focus on prevention... should seek to use to its best advantage the opportunity embraced by a better understanding of the gene, while holding back those demands of both patients and physicians where evidence is insufficient to justify significant investment. The grasp of both medical and management perspectives available to the public health physician imposes a special responsibility to take up and develop this aspect of public health practice.’
Regarding patient expectations we know already from the fifth survey of the Eurobarometer on Biotechnology, which was conducted in 2002, that 44% of Europeans are positive about the results of biotechnology, whereas 17% are sceptical.
How can we deal with all these different perspectives? Where is the truth? Or furthermore, is there any truth?
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The challenge |
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Interestingly enough, European and US public health institutions and platforms like the Public Health Genetics Unit in Cambridge (PHGU), the German Center for Public Health Genetics in Bielefeld (DZPHG) and the Office of Genomics and Disease Prevention at the Centers for Disease Control and Prevention in Atlanta (CDC), who work closely together with researchers from genetic and molecular science (‘modern biology’), as well as from population science and humanities and social science (ELSI), are much more optimistic and clear about the relevance of genomics for public health than others. They all have strong links or are even part of the respective national genome research projects in these countries and are translating genomic knowledge from biotechnology through genetic epidemiology into public health (‘translational research’). By using methods like horizon scanning, fact-finding and monitoring to identify research trends as early as possible, they are already doing a prospective evidence-based evaluation, i.e. an evaluation that is already carried out in the process of basic research and not just in the (retrospective) process of the implementation of public health strategies, which always will tend to lag behind.
In the past 20 years, the advances in genome research have revolutionized knowledge of the role of inheritance in health and disease. Nowadays, we know that our DNA determines not only the cause of single-gene disorders, which affect millions of people worldwide, but also predispositions (‘susceptibilities’), which are based on genotype and haplotype variants, to common diseases such as cancer, cardiovascular diseases, psychiatric disorders or even to some infectious diseases.
Evidently, these rapid advances in genomics and accompanying technologies are triggering a shift in the comprehension of health and disease as well as in our understanding of new approaches to prevention and therapy. Which consequences can be drawn from this knowledge, and how can it be translated into policies and practice in a responsible and timely manner?
Obviously, the integration of genomics into public health research, policy and practice will be one of the most important future challenges for our health-care systems. Expertise is already feasible and can be clustered and evaluated for a socially accountable use.
For example, in a condition like coronary heart disease, to be a heterozygote for the LDL receptor gene confers an increased risk for developing this condition. But, as is also true for all other risk factors (e.g. social factors, diet, smoking, physical activity), which have been identified by epidemiologists in this context in the past decades, the presence of the genetic marker is not predictive, and those with it may not develop the disease, while those without it may end up with the disease. Thus, the scenario is very much like that of coronary heart disease in the presence of raised blood pressure or cholesterol levels: the increased risk implies ‘only’ a (high or low) probability, and the genetic marker is ‘just’ another modifier in the causality of the disease and therefore not being exceptional. Nevertheless, the ethical question is how we will handle these susceptibilities. To answer this question, as a first step, population-based, large-scale epidemiological studies are needed to measure associations between specific gene variants and environmental factors and the risk of coronary heart disease. Such studies have already been conducted, for example within the US National Health and Nutrition Examination Survey or the German National Genome Research Network. For translating such discoveries into interventions it is necessary not only to quantify the impact of gene variations on the risk of the condition, but also to quantify the effect of modifiable factors that interact with gene variations. Based on the knowledge of these attributable risks, sound policies and effective interventions can be made.
Regarding infectious diseases, research is being expanded to include host genetic factors that influence the susceptibility to certain infectious diseases or even the severity of the condition, and that affect responsiveness to vaccines and therapies. The identification of several gene–disease associations for parasitic (e.g. malaria), viral (e.g. HIV or hepatitis) and bacterial (e.g. tuberculosis or cholera) infections provide critical clues to control theses infectious diseases. By this, public health strategies will be more effective and efficient.
Policy-makers must be aware of the opportunity to improve consumer protection, to monitor the implications of genetics for health, social and environmental policy goals, and to assure that genetic advances will be tailored not only to treat medical conditions, but also to prevent disease and improve health. Sound and well reflected genetics policies and programs require a timely and coordinated process for evidence-based policy-making that relies on scientific research and ongoing community consultation. An acceptable and perhaps delicate balance between providing strong protection of individuals' interests and enabling society to benefit from the genetic advancements at the same time must be found.
Here, weighting benefits and risks of predictive genetic tests, of assessing the benefits of preventive strategies and of analysing complex new problems such as ‘genetic inequality’ is essential. On one hand, even if, in terms of genetic susceptibilities and polymorphisms, it will turn out that ‘we are all at risk for something’, there is potential for social inequalities in health: if genetic tests will be not covered by sickness funds, access to genomic knowledge and thus, to individualized and stratified prevention, diagnostics and therapy will lead to a two-tier system. On the other hand, even if genetic tests will be reimbursed in most health-care systems, which I strongly feel should be the case, there will be another ethical and social problem, which, in my understanding, may be much more discriminating: since genomics is triggering the complexity of knowledge, public health professionals will have the task to empower and enable people not only to understand this novel knowledge, but also to make people capable for sound decision-making regarding the application of genetic tests and therefore to assure a fair equality of opportunities. Otherwise, the gap between people able to handle this complexity and those not, will have the potential to be a new kind of social inequality.
In the long run, this supports a conception of public health taking leadership by implementing an evidence-based mode of policy-making. This is the reason why in the UK as well as in Germany, public health genetics has already been defined as ‘the application of genetic and molecular science to the promotion of health and prevention of disease through organized efforts of society’.
For the public health community it is important to stress that public health genetics has nothing to do with modifying genes, and that ‘genetic determinism’ and ‘genetic exceptionalism’ are obsolete. In addition, we have to clarify that public health genetics is not synonymous with genetic epidemiology in the same way that public health is not synonymous with epidemiology, and also that community genetics is not synonymous with public health genetics just as community health is not synonymous with public health. Furthermore, in terms of public health genetics we have to understand and promote the idea of integrating genomic knowledge into the aims and tasks of public health.
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Public health responsibilities |
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During the past century, achievements in public health led to enormous improvements and benefits in the health and life expectancy of people around the world. Immunization programs and better sanitation practices resulted in the eradication or reduction of many infectious diseases and safer food and water supplies. Advances in occupational safety considerably decreased the number of work-related injuries, illnesses and deaths. In the past 30 years, identification of behavioural risk factors, such as smoking, inactivity and poor dietary habits, gave rise to educational interventions and a decline in death rates from certain chronic diseases.
For future achievements in public health the CDC Office of Genomics and Disease Prevention predicts: ‘Perhaps because of these accomplishments, the determinants of disease and disability–whether natural or human made–are often perceived as originating outside the body. Although it has long been recognized that disease generally results from a constellation of host- and environment-specific factors, scientific and technologic limits have concentrated attention on the environment. Exogenous influences will continue to be vital for public health, but focusing solely on these influences may lead to diminishing rates of return compared to the triumphs of the past’.
‘To continue making significant strides, we must strengthen the effectiveness of public health interventions by more fully incorporating knowledge of internal, host-specific factors and their interactions with environmental exposures including the social environment and lifestyles...’
In the realm of social policy-making we need to come up with a clear strategy for assessing and translating this novel knowledge and application right in time. Policy-makers now have the opportunity to take action. Precondition for immediate action is strategic planning across health programs, promoting genomics competencies among health professionals, enhancing surveillance and epidemiologic capacity to support evidence-based policy-making, building partnerships and seeking input from stakeholders. Here, integrating genetics information into health communication will be an essential tool to generate distributed knowledge.
We have to identify likely benefits as well as potential risks of the integration of genomics into public health interventions (assessment). We have to describe the framework (corridors) for effective, efficient and socially acceptable policies (policy development). And we have to propose steps and ways to assure these policies in public health practise (assurance).
One specific task is to systematically analyse and evaluate every condition of public health interest, such as preventive interventions, by considering genomic knowledge. We may very well have the potential for much more target-oriented and stratified prevention strategies finally replacing ‘one strategy for all’. Moreover, clearly there is the potential to avoid ineffective or even ‘faulty’ preventive strategies. For example, we have already the potential to differentiate between persons who will respond to certain vaccinations and those who will not. Why then should non-responders take the risk of side-effects from vaccination if the vaccination will be ineffective, and also will have no benefit in this case at all? In this specific situation, which is estimated to be true for at least in 10% of the population, would not primary prevention be immoral? As another example, obesity is not only influenced by lifestyle habits such as inactivity or nutrition, but also (in >60%!) by several genetic factors. At least 2% of these 60% are only due to mutations in the MC4R gene. Individuals carrying the MC4R mutation are almost ‘resistant’ to any diet and physical activity. Is it not a ‘faulty’ preventive strategy giving advice to these individuals that ‘five a day’ or ‘a low-fat diet’ will be effective? Would it not be the ‘better’ (preventive) strategy to give support by respecting them as they are? Of course, there are many more polymorphisms triggering obesity, and there are several polymorphisms that play an important role in the effectiveness of diet and sports. There are even polymorphisms that increase the risk of dying after physical activity. It should be kept in mind that we have to be careful about the message ‘prevention and health promotion is good for everybody...’
In this context, the ‘right not to know’ and (!) the ‘right to know’ deserve our unbiased attention and must be mutually assured. This has so far not been considered in most of our discussions about the regulation of genetic tests. Besides the questions of reimbursement and access to genetic tests, restrictions in the provision of genetic tests such as physicians proviso, which has already been considered in some countries like Germany, seem to be sheer naïve in the era of e-health and globalization. Instead of proclaiming (ineffective) restrictions, would it not be much more effective and efficient to promote health literacy in order to protect the consumer? And from an ethical point of view, would it not perhaps be more appropriate to use the model of ‘informed contract’, which is based on the idea of ‘benefit sharing’ between the consumer and the provider, instead of continuing to use the model of ‘informed consent’ and ‘informed choice’ in the doctor–patient relationship?
New genetic technologies will force health communities to enhance surveillance and epidemiologic capacity for collecting and analysing information stemming from community-based assessments of genomic variation, providing evidence about the burdens of various diseases. As with other fast-paced scientific and technological advancements, the intersection between genetics and public policy will continue to require close monitoring using methods like health technology assessment, and will continue to require timely action. By this, we will have the chance to ensure the appropriate and responsible use of new genetic technologies.
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Conclusions |
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The next decade will provide an opportunity to prepare health professionals, the public and policy-makers for the advent of the genomics on health and health care. This will be a doable project but will require regional as well as European and global coordination. Now we have the ethical obligation to prepare society to meet this challenge and to take up the opportunities provided by the science in a medically useful, socially desirable and ethically justifiable manner. Here, health literacy, health communication and empowerment in managing risks are the key for opening the doors to a truly beneficial public health genetics.
All in all, this can be facilitated by implementing ethical benchmarks like respect for autonomy and social justice in the context of policy development.
By promoting the communication about genomics in this way not only within the public health scientific community but also among professional groups, public health agencies and the public, perhaps, there will be a return on public investment in the human genome research.
‘Public health and genetics—a dangerous combination?’: in my opinion, there are already much more chances than risks in providing a better health for the public.
Indeed, there is still a discussion about stigmatization and discrimination owing to genetic information not only in the public, but also in the scientific community. Nevertheless, whoever continues to separate genomic knowledge from medical information by defining genomic knowledge as exceptional, whoever continues to promote the obsolete idea of genetic determinism, and whoever continues to claim the ‘genetization’, ‘molecularization’ and ‘medicalization’ of society, has not seriously tried to keep up with the genomics research of the past years. Explicitly, I would like to emphasize at this point that this accusation does not necessarily imply that public health professionals do not have an obligation to consider genetic information as a highly sensitive factor in medical information!
Furthermore, the question is not whether the combination of public health and genetics is dangerous. The key question is whether we are not rather doing harm to people by omitting to integrate genomics knowledge into public health interventions, and thus withholding the potential of stratified evidence-based prevention.
The public health community will lose credibility if, on one hand, public health is promoting health literacy in a value-pluralistic and democratic society and enabling and empowering individuals for decision-making, while on the other hand ignoring and withholding genomics knowledge and therefore still not providing evidence-based public health interventions. In terms of the individual's ‘right to know’ and in terms of best practice in public health, is this not a new form of discrimination?
I finish with a quote by Kurt Marti: ‘Where would we be if we all just sat there and said ‘where would we be now’, but nobody was prepared to go and find out where we would be if we actually went?’
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