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Focusing on advanced liberal societies, Rose claims that we are living in an 'economy of vitality' based on the 'molecular' knowledge of life and its possibilities for exploration, which acquire different meanings for different actors industry, governments, patients and markets. Novas , for his part, analyses how patient activism in search of cures or treatments for certain diseases has reconfigured the Foucauldian perspective of biopolitics. Specialists and States are no longer the only agents to define the mechanisms for controlling life. Subjects themselves, sick or otherwise, also conceive of themselves as biological entities and demand adjustments to social policies for promoting the life and well-being of individuals and collectivities.

Novas analysed two cases in the United States where patient associations played a central role in collecting funds and, principally, biological material for the development of research on rare diseases. In this process the human body and its parts were turned into 'bargaining chips' in the patient-scientist relation, forming a biovalue.

The discussions opened up by these authors raised some stimulating topics for anthropology, traversing theoretical fields spanning from family and kinship studies and the anthropology of health and medicine to social studies of science and technology, economics and politics. However we also need to pose a question: just how influential is the new genetics in sociocultural and economic contexts where biotechnologies are still largely inaccessible? How does this area of science influence decisions over health, bodily care, reproduction and relationships?

Is knowledge of their own genetic condition really becoming a widespread demand among individuals with a family history of serious disease?

Genetics in Healthcare Practice

How are notions like choice, risk, responsibility, 'genetic prudence' and autonomy imagined in contexts distinct to those where the above authors conducted their research - and indeed within these contexts too? Recent studies have shown that there are limits to the generalized use of concepts such as 'geneticization' and 'biosociality,' even in advanced liberal societies.

Gibbon , for example, questions the passivity attributed to patients in analyses that overestimate the impact of new genetic technologies on the formation of clinical identities, ignoring the negotiations that inevitably unfold in patient-doctor discussions on the hereditary nature of breast cancer. Lock , in turn, observed that the genetic testing used to assess the risk of developing Alzheimer's disease AD is not a major factor for family members with the disease.

Family life is perceived to be more important than testing, which is ambiguous and uncertain in terms of establishing risk, meaning that trying to produce a sociability founded on genetic inheritance makes no sense to many people. Lock also observed that the associations between these families centred much more on providing and obtaining guidance on everyday care for people with AD than on determining the genetic causes of the disease.

We need to ask, therefore, whether the new genetics really has transformed family relations, medicalizing kinship - or has it merely facilitated the shifts between the already existing physical, moral and affective dimensions of constructing the family? To explore these questions in more depth, I shall present the ethnographic material collected by myself over an almost two-year period with families affected by Machado-Joseph disease living in Rio de Janeiro.

This group represents just one tiny sample from a vast and diverse population with rare diseases. I approach my analysis, therefore, as a case study that cannot be generalized but which is useful to the development of new questions capable of shedding some light on the complex multiplicity formed by the universe of people living with rare diseases. I begin with the narratives of people with and without symptoms of MJD from two different families, who I shall call the Silva family and the Santos family.

Both families originally came from the Rio de Janeiro suburbs, with some members still residing in this region, but with relatives also living in the north and west zones of the city. Though from a working-class background, today the economic conditions of family members would place them among Brazil's urban middle class. The second generation, now aged between 48 and 73 years old, with whom I have had the most contact, and most of whom present symptoms of the disease, were formally employed in the public sector civil or military.

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Among their own children, the third generation aged between 16 and 43, many have completed higher education, with one of the women being a university professor. Most members of the two families access health services through a combined use of the public and private systems. Some use the Rio de Janeiro unit of the Sarah Kubitschek Network, popularly known as 'Rede Sarah,' a complex of hospitals run by the federal government that specializes in neurorehabilitation, offering treatments like physiotherapy and speech therapy to people with ataxia.

In both families, ataxia began to be recognized through the condition of the father of those today presenting the same symptoms. The recollection of the father who had slurred speech, walked unsteadily and ended up in a wheelchair emerges as the strongest early memory of the disease, subsequently observable in other members of the paternal family. Both families refer to the suffering of the father or the grandfather for those in the third generation being compounded by his condition going undiagnosed.

For two cousins from the Silva family, married for more than 40 years, who I shall call Ana and Otto, the earliest memory of the disease relates to their fathers, albeit in different ways: Ana, symptomless, recognizes that her father had MJD, though no precise diagnosis was obtained before his death. Otto, who has manifested evolving symptoms of the disease for 20 years, initially repeated his father's explanation that his paralysis had been caused by an accident.

Both also evoke the image of the paternal grandmother who 'died paralytic,' but the association with the same disease as their fathers was not immediately made at the time. Temporal and spatial distance seem to be a key element influencing the lack of connection made between the disease of their two fathers, witnessed first-hand, and the illness of their grandmother, who lived in another city and 'died an old woman' when they were still children. According to Ana:. The people there from the Northeast said grandma so-an-so died paralytic, but we had no idea what it was, what that was, that it came from the family.

Because this disease came from this grandma of mine. In the absence of any conclusive diagnosis and given the advanced age at which the disease manifested and worsened in the grandmother and both fathers, associations 'age-related diseases' were not discarded. Other explanations were also cogitated, such as an accident in the case of Otto's father, or even a 'weakness' in the case of Ana's father who for a long time, according to one of her sisters, was assumed to be a heavy drinker when the symptoms first manifested, not only by neighbours, but by his own family.

The Silva family discovered that the disease was genetic and hereditary after one of Ana's sisters, manifesting symptoms around the age of 40, decided to take a DNA test. Since the test in question was not performed in Brazil at the time, her sample was sent to the United States. The identification of her disease paved the way for another two siblings from the Silva family to seek out the tests when they too began to show symptoms, primarily to explain their problems at work and retire with a disability pension.

The first test was conducted in a private laboratory in Minas Gerais and the result proved negative.


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This provided leeway for their work colleagues to claim that the siblings were 'somatizing' their sister's disease and their problem was 'just psychological. The result was positive and today they are suing the laboratory in Minas Gerais. In the Santos family too, it is the father of those manifesting symptoms today who is mentioned first. The proximity with the aunts and uncles, siblings and cousins - almost all of them living in the same city, unlike the Silva's who have close relatives living in other states - made it clear, though, that the disease was some kind of 'family problem.

Describing his father, Miguel, an MJD sufferer, said:. At the time the disease wasn't known, my father was being treated by Doctor X here in Rio, and the latter told him: 'Look, you have an incurable degenerative disease,' but he didn't mention its name and my father just couldn't accept it, the fact he didn't know what it was, he couldn't accept it. He just felt himself fading away. For his niece, who I shall call Sofia, who had no symptoms of the disease, the image of the grandfather is present, but so too the image of a great aunt who in fact raised her mother, since the latter was left an orphan at the age of 2 her mother is Miguel's half-sister and also shows symptoms of the disease.

Describing her great aunt, she said:. She hauled herself about. Of all those I saw, she was the worst. She couldn't walk, she dragged her feet until one day she fell in the bathroom, she spent the whole day in the shower. Miguel and Sofia both refer to the reluctance of the father grandfather and aunt to use a wheelchair: this would have been the social concretization of the disability caused by the disease. According to Miguel, his father died when he was "But because he let himself go [ He didn't do any physical exercise, he wouldn't agree to using a walking stick, he refused to use a wheelchair, he didn't accept anything.

The disease was first identified among the Santos family when a cousin living in Germany began to present symptoms around the age of 50 and took a genetic test in On the advice of her doctors, she compiled a dossier on MJD and sent it to all her relatives in Brazil. The family's response was to ignore the document. Miguel, then without any symptoms of the disease, told me:.

I didn't pay any notice, I didn't want to know, who kept it was my sister [Sofia's mother], I didn't want to know, I don't want to know about any disease. In I was beginning my master's course, starting to teach classes, it was tumultuous time, there were so many things in my head, I didn't take time to read the dossier. My cousin deluged us with this topic, she wanted us to study it, she wanted me to investigate more deeply, but nobody did, nobody would listen to her.

However the diagnosis sent by the cousin did at least put a name to the disease, even if the family made no attempt to learn more. Those who developed symptoms after this dossier knew what disease they had and were able to tell the doctors. Members of the third generation, still without symptoms, did not seek out predictive tests or genetic counselling.

The situation experienced in the Santos family invites comparison with Konrad's analysis of diagnostic revelations, the construction of prognoses for genetic diseases and their repercussions on the family. Konrad worked with people 'at risk' of having inherited the gene for Huntington's disease HD 18 and explored the moral obligation that surfaces in the management of genetic information: who to tell and who not to tell? This produces an intense moral dilemma involving the disclosure or secrecy about the genetic condition, which permeates from the medical sphere into the domain of the family.

The situation elicits an important discussion on ethics, personal rights, duty of care to the other, and how family relations are impacted by genetic information. On the other hand, revealing a personal diagnosis to other family members morally compels them to learn more about their own genetic condition, something not always welcomed, especially among kin without any symptoms, who, like Sofia and her uncle, "don't want to know about disease. Sofia, for example, once told me that she has no wish to take the predictive test to discover if she carries the MJD gene because she thinks that "the mind constructs everything in us.

Though she recognizes the health problem in the family, its hereditary nature and its complications, Sofia says that she has never thought about not having a child. However this does not mean that she did not make precise plans for her life, taking into account the risk of genetic inheritance in her family. For example, she waited until she had passed a public sector recruitment exam before trying to become pregnant:.

I always thought that I had to have a job first, a good job, that would allow me to live, and if the disease appeared, one that would enable me to pay for a health plan. Ana and Otto, who are first-degree cousins, always joke that had they known about MJD earlier they would never have been 'mad enough' to get married: since both of them may have the disease, they recognize that the chance of having sick children will be higher.

When I asked them about their children, two adult men now in their forties, each with a daughter of his own, and whether they have displayed any concern about having inherited the MJD gene, Ana replied that all her family are opposed to "this testing thing. The transmission of genes to grandchildren is not an issue among either family. The daughters-in-law of Ana and Otto know about the genetic condition in the family, they say, just like Sofia's husband who has seen the evolution of the disease in his mother-in-law and other relatives.

Aurian Garcia-Gonzalez is Fighting Genetic Disorders with Medical Research

The opinion among both families is that if the children are already born and out in the world, they should live their lives as fully as possible, including having children and raising their own families. Ana, for instance, remarked:. That's how we think. I think that if the Lord [God] has not yet given us a problem with them, if one day he does so, we've already reaped the reward: they were born, they've already started their own family, they've already made their own way in life, both of them.

Genetics and Public Health

I think it would be much worse to have a [sick] child who hasn't even began living. Miguel, father of three daughters, says there is no point spending time worrying about the disease and discourages his daughters from doing so:. If they're already born, they're already here, there's nothing to be done, they just have to live their lives and not think about disease. Rather than analysing the percentages, statistics, genograms or long-term physical consequences, my interlocutors thus far seem keener to evaluate the kind of life still possible with the disease.

The close relationship with parents, aunts, uncles and cousins who have developed MJD but previously had a professional career or still work today, who can drive even though they become unsteady on their feet, who use computers when they can longer hold a pen, who had time to raise children before they became ill - all of this is taken into account when evaluating predictive genetic testing and the desire to have children or not.

In this sense, the age at which the disease first manifests has an important role in the way in which it is perceived by the members of the two families. Its late evolution and the gradual limitations that do not completely impede some activities from being performed, such as driving or small household tasks, though taken as undesirable may also be comprehended as a tolerable addition to the 'natural' process of aging.

Becoming paralytic at the age of 70, after having raised children or had a career, seems less serious than having a career interrupted while still young or being unable to have children and raise them, as becomes clear in Ana's remarks. However this does not mean that my interlocutors, whether with or without MJD, see aging as a stage of inevitable dependency, decrepitude or disability. On the contrary, even those of the senior generation with physical symptoms of the disease and the limitations it imposes do not live with their children. Ana and Otto, for example, aged 64 and 73 respectively, live alone in an apartment.

Their children visit regularly, but the couple insist on maintaining their independence, travelling by subway or taxi to association meetings or medical consultations. Sofia's mother also lives alone with her husband. In he had a stroke that left him paralysed on one side of his body. Using a walking frame to move about, Sofia receives help from a nurse during the day, but says that after 5p. This perceived independence, even in the face of the disease and old age, is something Sofia highlights too as a reason for not fearing her genetic inheritance.

As well as her own parents, she mentions her parents-in-law, both aged over 80, who have had other serious illnesses like cancer and yet still live alone. In contrast, as her uncle Miguel recalls, her father died sooner because he "let himself go," failing to do any physical exercise, something he himself practices regularly to minimize the disease's symptoms and remain independent for longer. In both these families, therefore, age emerges as an important factor in how they evaluate the meaning of the disease over the course of life.

Its manifestation almost always around the age of 40 is perceived to allow the family to reproduce or the person to plan their professional career. This helps explains why Sofia waited to establish herself professionally by passing a public sector recruitment exam before attempting to become pregnant. She was well aware that, were she to have inherited the MJD gene, her financial independence would be hugely important, especially in terms of possessing the material conditions to care for herself and her family.

Her refusal to take the predictive test does not imply a complete disregard for the possibility that she or her descendants may have the disease: it just means that other values shape her choices and her projects. Taking tests to confirm the disease becomes important for members of the two families when they begin to display symptoms and need a definitive diagnosis in order to retire, justify their work problems and forced absences, and avoid negative comments, such as the suspicion that they are alcoholic or that they are 'somatizing' a relative's disease.

Miguel, for example, was in the armed forces. During the first years of manifestation of MJD he tried to hide the symptoms and developed strategies to avoid job-related events that would make people suspect he was unwell, or in the best case scenario, that he was drunk, an impression admitted by some colleagues after he left. Only once he had the test results in his hands, five years after the first symptoms appeared, did he finally speak about the problem to his colleagues and immediately retired from work:.

Had I said before [the test when the symptoms were milder] they would have said I was shirking, because I didn't look like I had any kind of disease [ In these two families at least, therefore, we can observe that the demand for genetic testing is informed by different factors: for those who have symptoms, the test confirmation can resolve various sociorelational issues, such as the need to prove their genetic condition to other people and legitimize their leave from work, removing the stigma of being seen as a drunk or a 'shirker' from their job.

For those not presenting any symptoms, the test is seen as merely a way of anticipating the suffering and anguish of a positive result, and even quickening the disease's development by making the person spend "the rest of their life thinking about this," rather than a way of planning life or enabling reproductive choices. MJD's symptoms are expressed in various degrees of severity. Several of my interlocutors, with different ages and different periods of manifestations, still drive cars and perform other activities that prevent them from being classed as disabled. Unlike other degenerative and hereditary neurological diseases, MJD does not affect cognition.

These factors are taken into account when people refuse to take the predictive tests or reject the idea that they cannot or should not have children. As we saw in Ana's remarks, people argue that by the time the disease manifests, the person may have already lived a full life, a cycle deemed complete when they raise their own family and obtain financial stability. This does not mean that the families are unconcerned with the risk and seriousness of the disease and its effects, or that they fail to realize there is a risk.

They simply conceive this risk in another form, taking other variables into account, such as the potential degree of independence the person can achieve and the fact that the disease manifests later on in life, demonstrating that the perception of this risk is mediated by each person's experience of the disease and operates through affective, moral and relational logics, not only the logic of health.

Obviously there are contrary cases of people highly concerned with the fate of their potential offspring and thus severely question whether they should have children. For these people, in vitro fertilization with a pre-implantation genetic diagnosis IVF-PGD has been offered as an alternative possibility for those already diagnosed with the disease, and those who do not want to know their genetic condition, to have children free of the disease. In this technique various embryos are created through IVF, a cell is removed from each to test whether or not it is free of genetic mutation and, therefore, suitable for implantation.

One is the high cost of this procedure, unavailable through Brazil's public health system, meaning that it can only be obtained via private clinics. At an event I attended in , in Rio de Janeiro, which brought together people with movement disorders, including people with ataxia, IVF-PGD was mentioned as an option by women with MJD or who were daughters of sufferers. None of them took part in the association formed later the same year.

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They wanted to know from the physicians present at the meeting whether the technique could be requested through the courts, given that it is not offered by the National Health System SUS. At one of the association meetings, the son of a man with MJD - a young man in his early twenties who I shall call Pedro - announced that he wanted to take the predictive test to discover whether he has inherited the genetic mutation for the disease from his father. If so, Pedro said that he will try to have children while he is still young, before the first symptoms of the disease appear.

He argued that:. If I wait to have children when I'm 35 and start to manifest the disease at 40, like my dad, when my child is 15 years old I won't even be able to drive him to a party any longer. I asked him whether he knew about the IVF-PGD technique and he replied yes, but he did not intend to use the procedure because of the considerable expensive and the uncertain outcome. Knowing whether he could develop the disease would not help him decide whether to have children or not but when to have them.

Depending on the person's religious views, this ability to choose may also be problematized. As one of my interlocutors, a spiritist, asked: "Who am I to choose who will be born or not? I don't know if I would choose like that. As the president of an association involved in drafting the latter policy told me at one event, many members of the Ministry of Health workgroup considered IVF-PGD a viable form of containing the course of the disease in vulnerable families.

However the technique was not included under the argument that it would undoubtedly be targeted by conservative religious groups, hindering or delaying approval of the policy. More in-depth analyses of families with rare and hereditary diseases are needed in order to observe in what way some social markers of difference, such as religion, gender and age, may be related to perceptions of the family and reproduction, and to biomedical technologies and their uses.

My intention at this point is to highlight this variability in perceptions, though aware that a broader study with more families is needed to evaluate the significance and impact of these social markers of difference on the apprehension of genetic knowledge and its uses in Brazil. In so doing I wish to avoid reducing this complexity to a purely economic or structural question of a lack of access to such technologies. The economic dimension is undoubtedly important and itself a social marker to be analysed, but moral and practical questions also form part of the perceptions and actions of individuals at risk of developing a rare disease.

Sofia, for example, after learning about IVF-PGD, went to a clinic specialized in human reproduction and the last time we spoke was waiting for the results of some exams before talking to the specialist again.

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Meanwhile she continued her attempt to become pregnant "via the traditional method. The data obtained from these families and from the testimonies of people with other forms of rare and hereditary diseases on the internet and in books leads me to question, in part, Finkler's claim that biogenetics is reshaping kinship relations previously based on honour and the sharing of beliefs, values and ways of being through the gene's substantiality. What I have observed, along with other ethnographic studies Lock , Weiner , Chilibeck et al. Values associated with individual and professional autonomy, the perception of different ages and their phases over the course of life, as well as the affective relations between kin with and without the disease, all have a significant impact on how MJD is perceived and responded to by asymptomatic people.

I concur with Chilibeck et al. On the contrary, the experience of disease in the family may actually produce a 'familiarization of genetics' ibid: Genes are reinterpreted in light of family history, rather than family history being radically modified through genetics. To repeat my earlier point: this does not imply ignorance of the risk, limitations and consequences of a rare disease, but the attribution of other meanings to these elements as part of the process of making decisions and building life projects.

In this process, hope emerges as a moral feeling capable of opening up possibilities in response to the uncertainties of the future and, simultaneously, continuing life in the present. Good et al. The authors focused on how this feeling evolves from the revelation of a diagnosis to the adherence to treatment plans, including as a source of motivation for physicians working with people with incurable or untreatable diseases. How do people engender care and sustain the willingness of others and themselves to continue in a scenario offering few resources to alleviate suffering?

This perspective in mind, hope can be interpreted as a moral project capable of engendering life in the present in situations involving extreme pain and suffering, as Mattingly explores in her study of Afro-American families with children suffering from serious and disabling diseases. The author focuses on hope as a critical dimension of the clinical encounter, negotiated between the families and their sick children and the physicians who are also confused about how to provide care to patients with no prospect of cure in a health system as unequal as America's.

Consequently, she argues that hope is not linear: it is constructed in direct opposition to the fear and despair that pervade these people's lives and affect their relations. Being hopeful thus amounts to both a practice and a process:. Hope most centrally involves the practice of creating, or trying to create, lives worth living even in the midst of suffering, even with no happy ending in sight. It also involves the struggle to forge new communities of care that span clinical and familial worlds.

This is why I have chosen to speak of hope as a practice, rather than simply an emotion or a cultural attitude 6. To analyse hope as practice, in her study Mattingly selected a demographic cross-section that included differences in class, race and power. Here she shows how the cultivation of the feeling of hope assumes different proportions depending on whether people have access to an apparatus medical, social and financial capable of 'facilitating' the construction of hope - if not for a cure, then at least for a better quality of life.

Poor black American have to construct this hope through other meanings and within a specific range of possibilities. With the advent of the new genetics, hope has been analysed as an element in the political organization of people with serious diseases and their families, including their relationships with medical doctors, researchers and the pharmaceutical industry in what Novas has called a "political economy of hope.

The biological material needed to make these hopes concrete is therefore simultaneously a vector of health and wealth. Less optimistic, Brekke and Sirnes criticize the literature promoting the concepts of biocitizenship and biosociality for, in their view, trying to rid the new genomic medicine of the ideas of eugenics by using the argument of hope.

The authors suggest that this literature presents a unilateral and narrow reading of the discourses involving hope, a feeling whose directional force is not always guided by the possibilities of the future, they say, but by the despair experienced in the present. For Brekke and Sirnes, the contemporary logic of hope annuls the distinction between research and medical treatment. Moreover, the urgency with which certain demands are made by patients is bending the limits of ethics, jeopardizing the principles of bioethics. Despite the conservative tone permeating the text when it argues for a separation between politics and science something highly unlikely to exist , one interesting point in Brekke and Sirnes's analysis is their highlighting of the association between hope and despair: specifically, how the possibility of the former depends on emphasizing the latter, a movement that demands the production of specific moralities.

In a recent analysis of the medicalization of hope in the case of terminally ill patients, Menezes analyses how this feeling has shifted in the modern West from the sphere of Christian suffering to a hedonism centred on physicality. This process transplanted hope from the religious field to the space of science, attributed the capacity to develop infinitely, all the while enhancing the human body and life. The second approach is seen as the core task of Public Health Genomics.

Still, there is an interdependency between the two directions; for example, as Public Health Genomics is also concerned about the organisation of genetic services and the genetic health literacy of the population. How can one deal with these diverging opinions? Or maybe we should rather ask, is there any truth? What is the challenge for public health? 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, that is, 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 and policies, 19 which always will tend to lag behind.

In the past 20 years, the advances in genome research have revolutionised knowledge of the role of inheritance in health and disease. The new technologies will allow researchers to examine genetic mutations at the functional genomic unit level 24 and to better understand systems biology, epigenomics, pleiotropic effects, the significance of environmental factors such as chemical agents, nutrition or personal behaviour 25 in relation to the causation of diseases like cardiovascular diseases, 26 allergies, cancer, psychiatric disorders or infectious diseases.

The advances in public health do not correspond yet to the emerging knowledge we have seen in genomics in the past decade. The Wellcome Trust Case Control Consortium has recently published the preliminary results of a genome-wide association study, which highlight the manifold public health challenges deriving from genetic research.

On a conceptual level, public health and medicine seem to converge as the assessment and stratification of risks, which becomes essential for the individual and society at large. The level of genomic knowledge in certain fields such as diabetes 30 requires an urgent shift of prevention, but public health practitioners seem to be reluctant to draw conclusions from the existing evidence. In the field of infectious diseases, the situation is slightly different as pandemics have alerted all stakeholders that genome-based knowledge needs to be used to prevent future incidents.

Evidently, these rapid advances in genomics and accompanying technologies are triggering a shift in the comprehension of health and disease as well as in the understanding of new approaches to prevention and therapy. Clarifying the general conditions under which genomic knowledge can be put to best practice in the field of public health, paying particular consideration to the ethical, legal and social implications 12 , 17 , 35 is currently the most pressing task in Public Health Genomics.

Aiming the application of genetic and molecular science to the promotion of health and disease prevention through the organised efforts of society, integral to its activities is a dialogue with all stakeholders in society, including industry, governments, health professionals and the general public. 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 it is also true for all other risk factors eg, 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.

To answer this question, as a first step, population-based large-scale epidemiologic studies would be helpful to measure associations between specific gene variants and environmental factors and the risk of coronary heart disease. 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 eg, malaria , viral eg, HIV or hepatitis and bacterial eg, tuberculosis or cholera infections provides critical clues to control these infectious diseases.

By this, public health strategies will be more effective and efficient. Policymakers must be aware of the opportunity to improve consumer protection, to monitor the implications of genomics for health, social and environmental policy goals and to assure that genomic advances will be tailored not only to treat medical conditions, but also to prevent disease and improve health. Emerging knowledge from basic sciences requires new translation research, leading to new applied health technologies such as genetic tests not necessarily DNA-based.

In contrast, even if genetic tests will be reimbursed in most health-care systems, there will be another ethical and social problem, which may be much more discriminating: since genomics is triggering the complexity of knowledge, public health professionals and medical staff 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 54 and therefore to assure a fair equality of opportunities.

Otherwise, the gap, between people being able to handle this complexity and those being not, will have the potential of 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.

In addition, it has to be clarified that Public Health Genomics is not synonymous with genetic epidemiology in the same way as public health is not synonymous with epidemiology, and also community genetics 54 , 55 is not synonymous with public health genetics, as community health is not synonymous with public health.

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. Immunisation programmes and better sanitation practices resulted in the eradication or reduction of many infectious diseases as well as in 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.

Although it has long been recognised 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.

Genetics and Public Health

In the realm of social policy making, there is a need to come up with a clear interdisciplinary 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 and overcoming systematic barriers between the fields of medicine, genetics and public health.

Here, integrating information on genomics into health communication will be an essential tool to generate distributed knowledge. The likely benefits as well as potential risks of integration of genomics into public health interventions assessment should be identified. The framework corridors for effective, efficient and socially acceptable policies policy development should be described.

Steps and ways should be proposed to assure these policies in public health practice assurance. One specific task is to systematically analyse and evaluate every condition of public health interest, such as preventive interventions, by considering genomic knowledge. For example, there is 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 have no benefit in this case at all?

Of course, there are much 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. Besides the questions of reimbursement and access to genetic tests, restrictions in the provision of genetic tests such as physician's proviso, which has already been considered in some countries like Germany, seem to be sheer naive in the era of e-health, globalisation and integrated health services.

Instead of proclaiming ineffective restrictions, would it not be much more effective and efficient to promote health literacy and to ensure the highest technical quality of products to protect the consumer? 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, 63 providing evidence about the burdens of various diseases.

As with other fast-paced scientific and technological advancements, the intersection between genomics and public policy will continue to require both close monitoring, using methods like health technology assessment, 7 , 64 , 65 , 66 , 67 , 68 as well as timely action. By this, we will have the chance to ensure the appropriate and responsible use of new genetic technologies. The conglomerate of scientific and policy areas illustrates the core problem triggered by genomics.

There is a need for a coherent and consistent policy framework, which is open to new innovations and flexible. Institutions like the Public Health Genomics European Network and its allied networks, associations and projects are needed to fuel an interdisciplinary discourse. Public health perceives itself as the umbrella for this discourse, but we should rather focus on health outcomes than vested rights.

Both genetic scientists and public health practitioners should start a problem-based discourse and should not succumb to the current dogmas. The next decade will provide a window of opportunity to prepare health professionals, public health practitioners, the public and policy makers for the advent of genomics on health and health care. This will be a doable project but will require regional, national, European and global coordination on both the vertical and horizontal levels. We argue that there is an ethical obligation to prepare society to meet this challenge and to take up the opportunities provided by the science in a medically useful, effective, efficient, socially desirable and ethically justifiable manner.

Here, health literacy, health communication and empowerment in managing risks are key for opening the doors to a truly beneficial Public Health Genomics practice. This can be facilitated by implementing ethical benchmarks and legal safeguards 70 such as respect for autonomy and social justice in the context of policy development.

Indeed, there is still a discussion about stigmatisation and discrimination due to genetic information not only in public but also in the scientific community. Explicitly, it should be emphasised at this point that public health professionals have the obligation to consider genetic information as a highly sensitive group of medical information. Still, we argue that genetic information should be seen as one cornerstone in the individual and societal health information management, just like we discuss the value of family history or different diagnostic pathways and technologies in ADPKD autosomal-dominant polycystic kidney disease.

Furthermore, it is not the question whether the combination of public health and genomics is dangerous. The public health community will lose credibility if, on the 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 genomic knowledge, and therefore still not providing evidence-based public health interventions.

Public health needs to prepare itself for the upcoming challenges, which derive from genomics. In this sense, it needs to strengthen the communication efforts among all sciences involved. Public health can serve as the umbrella, that spans the disciplines such as genetics, ethics, law and all other stakeholders. Science ; : — Childs B, Valle D : Genetics, biology and disease. Annu Rev Genomics Hum Genet ; 1 : 1— JAMA ; : — Burke W : Genomics as a probe for disease biology. N Engl J Med ; : — Geneva: WHO, Yoon PW : Public health impact of genetic tests at the end of the 20th century. Genet Med ; 3 : — Ital J Publ Health ; 3 : 1— Gutachten zur Bio- und Gentechnologie.

Berlin: Friedrich-Ebert-Stiftung, Brand A, Brand H : Public health genomics — relevance of genomics for individual health information management, health policy development and effective health services. Ital J Publ Health ; 4 : 24— Oxford: Radcliffe Medical Press, , pp — London: The Nuffield Trust, Omenn GS : Public health genetics: an emerging interdisciplinary field for the post-genomic era.

Annu Rev Public Health ; 21 : 1— London, New Jersey: Zed Books, Khoury MJ : Relationship between medical genetics and public health: changing the paradigm of disease prevention and the definition of a genetic disease.


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  7. Am J Med Gen ; 17 : — Baird PA : Identification of genetic susceptibility to common diseases: the case for regulation. Perspect Biol Med ; 45 : — Nat Gen ; 32 : Nature ; : — Antonovsky A : Unraveling the Mystery of Health. San Francisco: Jossey Bass, Art Thromb Vasc Biol ; 23 : Hoffmann K, Mattheisen M, Dahm S et al : A German genome-wide linkage scan for typ 2 diabetes supports the existence of a metabolic syndrome locus on the chromosome 1p Diabetologia ; 50 : — Nat Rev Genet ; 2 : — Khoury MJ : From genes to public health: the applications of genetic technology in disease prevention.

    Am J Public Health ; 86 : — Gesundheitswesen ; 64 : — Partnership for Prevention. Washington,