The role of community review in evaluating the risks of human genetic variation research.

The practicality and moral value of community review of human genetic research has become a focus of debate. Examples from two Native American communities are used to address four aspects of that debate: (1) the value of community review in larger, geographically dispersed populations; (2) the identification of culturally specific risks; (3) the potential conflict between individual and group assessments of research-related risks; and (4) the confusion of social categories with biological categories. Our experiences working with these two communities suggest that: (1) successful community review may require the involvement of private social units (e.g., families); (2) culturally specific implications of genetic research may be identifiable only by community members and are of valid concern in their moral universes; (3) community concerns can be incorporated into existing review mechanisms without necessarily giving communities the power to veto research proposals; and (4) the conflation of social and biological categories presents recruitment problems for genetic studies. These conclusions argue for the use of community review to identify and minimize research-related risks posed by genetic studies. Community review also can assist in facilitating participant recruitment and retention, as well as in developing partnerships between researchers and communities.     

Genetic governance: The risks,oversight and regulation of genetic databases in the UK

Increasing scientific and commercial interest is being paid to the creation of large population-based genetic databases to study the relationship between genes and disease. This paper will use ideas from the sociology of technology to look at the network of actors involved in the production, use and commercial exploitation of human genetic data, the social and ethical issues posed by genetic databases and the development of new governance arrangements in this domain. It will be argued that we are witnessing the creation of a new type of research system in the field of human genetics, which also forms the centre of an emerging market for personal and population-based genetic information. Some proposals for improving the governance of human genetic data in the UK will be offered in conclusion.     

Human‐directed social behaviour in dogs shows significant heritability

Through domestication and co‐evolution with humans, dogs have developed abilities to attract human attention, e.g. in a manner of seeking assistance when faced with a problem solving task. The aims of this study were to investigate within breed variation in human‐directed contact seeking in dogs and to estimate its genetic basis. To do this, 498 research beagles, bred and kept under standardized conditions, were tested in an unsolvable problem task. Contact seeking behaviours recorded included both eye contact and physical interactions. Behavioural data was summarized through a principal component analysis, resulting in four components: test interactions, social interactions, eye contact and physical contact. Females scored significantly higher on social interactions and physical contact and age had an effect on eye contact scores. Narrow sense heritabilities (h²) of the two largest components were estimated at 0.32 and 0.23 but were not significant for the last two components. These results show that within the studied dog population, behavioural variation in human‐directed social behaviours was sex dependent and that the utilization of eye contact seeking increased with age and experience. Hence, heritability estimates indicate a significant genetic contribution to the variation found in human‐directed social interactions, suggesting that social skills in dogs have a genetic basis, but can also be shaped and enhanced through individual experiences. This research gives the opportunity to further investigate the genetics behind dogs' social skills, which could also play a significant part into research on human social disorders such as autism.     

Ethical issues in human genome research.

In addition to provocative questions about science policy, research on the human genome will generate important ethical questions in at least three categories. First, the possibility of greatly increased genetic information about individuals and populations will require choices to be made about what that information should be and about who should control the generation and dissemination of genetic information. Presymptomatic testing, carrier screening, workplace genetic screening, and testing by insurance companies pose significant ethical problems. Second, the burgeoning ability to manipulate human genotypes and phenotypes raises a number of important ethical questions. Third, increasing knowledge about genetic contributions to ethically and politically significant traits and behaviors will challenge our self-understanding and social institutions.     

Race, ethnicity, and health: can genetics explain disparities?

Over the past decade, numerous studies have documented profound racial and ethnic disparities in disease in the United States. This essay examines how popular and scientific concepts of race and ethnicity converge with dominant understandings of genetics to inform the design and interpretation of research, public health policy, and medical practice. Although there is some acknowledgment in the biomedical community that racial and ethnic categories are social and not genetic, ideas about race and ethnicity that circulate in biomedicine are contradictory. Thus, in practice genetic explanations for observed differences are common both in the scientific literature and in popular media accounts of biomedical research. Such explanations naturalize racial and ethnic difference and create a conceptual barrier to developing a research program that explores the complex ways in which social inequality and experiences of racial discrimination interact with human biology to influence patterns of disease. Importantly, genetically based ideas lead to disease prevention policies that are bound to be ineffective.     

Challenges Faced by Behavioral Genetic Studies: Researchers Perspective from the MENA Region

BackgroundBehavioral genetic studies are important for the understanding of the contribution of genetic variations to human behavior. However, such studies might be associated with some ethical concerns.MethodsIn the current study, ethical challenges related to studies of genetic variations contributing to human behavior were examined among researchers. To achieve the study purpose, the Middle East and North Africa (MENA) region researchers were taken as an example, where the after- mentioned ethical challenges were discussed among a group of researchers, who were the participants of an online forum. Discussions and responses of the participants were monitored and were later qualitatively analyzed.ResultsDiscussions revealed that several ethical challenges, including subjects’ recruitment, the difficulty of obtaining informed consents, and issues of privacy and confidentiality of obtained data as information leakage, in this case, will lead to social stigma and isolation of the participants and their immediate family members. Jordanian social and cultural norms, faith, and the tribal nature of the population were raised as a major challenge that might face conducting behavioral genetic studies in the Arab populations of the MENA. The lack of regulation related to the conduction of genetic studies, misunderstanding, and misuse of genetic information are other challenges. A full explanation of genetic research and the current and future possible benefits/risks of such research could be potential solutions.ConclusionIn conclusion, the MENA populations are tackled with major challenges in relation to conducting research studies in genetics/antisocial behavior field/s. Establishment of guidelines related to genetic studies, capacity building, increasing public awareness about the importance of genetic testing, and enhancing responsible conduct of research will facilitate the conduct of such sensitive studies in the future in the region.     

Genetic and environmental influences on human psychological differences

Psychological researchers typically distinguish five major domains of individual differences in human behavior: cognitive abilities, personality, social attitudes, psychological interests, and psychopathology (Lubinski, 2000). In this article we: discuss a number of methodological errors commonly found in research on human individual differences; introduce a broad framework for interpreting findings from contemporary behavioral genetic studies; briefly outline the basic quantitative methods used in human behavioral genetic research; review the major criticisms of behavior genetic designs, with particular emphasis on the twin and adoption methods; describe the major or dominant theoretical scheme in each domain; and review behavioral genetic findings in all five domains. We conclude that there is now strong evidence that virtually all individual psychological differences, when reliably measured, are moderately to substantially heritable.     

Racialized genetics and the study of complex diseases: the thrifty genotype revisited

Current debate on the use of population genetic data for complex disease research is driven by the laudable goals of disease prevention and harm reduction for all, especially dispossessed, formerly enslaved, or colonized populations. This article examines one of the oldest gene-based theories of complex disease causation: the thrifty genotype hypothesis (THG). This hypothesis is emblematic of the way in which genetic research into complex disease attracts a high investment of scientific resources while contributing little to our capacity to understand these diseases and perpetuating problematic conceptions of human variation. Although there are compelling reasons to regard the high prevalence of type 2 diabetes mellitus as a by-product of our biological incapacity to cope with modern affluent and sedentary lifestyles, there is at present no consistent evidence to suggest that minority populations are especially genetically susceptible. Nor is it clear why such genetic differences would be expected, given the original pan-species orientation of the TGH. The limitations inherent in current applications of the TGH demonstrate that genetic research into complex disease demands careful attention to key environmental, social, and genetic risk factors operating within and between groups, not the simplistic attribution of between-group differences to racialized genetics. A robust interdisciplinary approach to genetic epidemiological research is proposed.     

Genetic Testing: The Appropriate Means for a Desired Goal?

Scientists, the medical profession, philosophers, social scientists, policy makers, and the public at large have been quick to embrace the accomplishments of genetic science. The enthusiasm for the new biotechnologies is not unrelated to their worthy goal. The belief that the new genetic technologies will help to decrease human suffering by improving the public’s health has been a significant influence in the acceptance of technologies such as genetic testing and screening. But accepting this end should not blind us to the need for an evaluation of whether a particular means is adequate to achieve it. Lack of such evaluation notwithstanding, discussions of the ethical, legal, and social implications have tended to presuppose that the development and implementation of genetic testing will be an appropriate means to reduce human suffering in significant ways. I argue here that such an assumption is mistaken. In part this is the case because human biology is more complex than sometimes it is made to appear in these debates. But, the idea that human suffering resulting from disease can be reduced in significant ways with the use of genetic testing also ignores the social contexts in which these technologies are being developed and implemented.     

Social Diversity in Humans: Implications and Hidden Consequences for Biological Research

Humans are both similar and diverse in such a vast number of dimensions that for human geneticists and social scientists to decide which of these dimensions is a worthy focus of empirical investigation is a formidable challenge. For geneticists, one vital question, of course, revolves around hypothesizing which kind of social diversity might illuminate genetic variation—and vice versa (i.e., what genetic variation illuminates human social diversity). For example, are there health outcomes that can be best explained by genetic variation—or for social scientists, are health outcomes mainly a function of the social diversity of lifestyles and social circumstances of a given population? Indeed, what is a “population,” how is it bounded, and are those boundaries most appropriate or relevant for human genetic research, be they national borders, religious affiliation, ethnic or racial identification, or language group, to name but a few? For social scientists, the matter of what constitutes the relevant borders of a population is equally complex, and the answer is demarcated by the goal of the research project. Although race and caste are categories deployed in both human genetics and social science, the social meaning of race and caste as pathways to employment, health, or education demonstrably overwhelms the analytic and explanatory power of genetic markers of difference between human aggregates.Two contradictory magnetic poles pull medical research on humans in opposite directions, producing a tension that will never be resolved. On the one hand, there is a universalizing impulse—based on a legitimate assumption that human bodies are sufficiently similar that vaccines, catheters, pasteurizing processes, and tranquilizers that work in one population will work in others. On the other hand, and unless and until research protocols establish and confirm specific similarities across populations, there is sufficient human variation that targeting medicines for specific populations can be a legitimate—even vital—empirically driven task. The theoretical question, of course, is why a particular population or subpopulation is to be so targeted? Because of folk theories about different groups’ biological difference, or because of their social and political standing? Age, gender, and race leap to the forefront. The history of research on ailments as disparate as breast and prostate cancer (Rothenberg 1997; Wailoo 2011), heart disease (Cooper et al. 2005), and syphilis (Jones 1981; Reverby 2009) provides strong evidence that the answer is not either/or but both. So, on what grounds do we choose one strategy over the other?And it is precisely on this point that Steven Epstein (2007) raises the most fundamental question:

Out of all the ways by which people differ from one another, why should it be assumed that sex and gender, race and ethnicity, and age are the attributes of identity that are most medically meaningful? Why these markers of identity and not others? (Epstein 2007, p. 10)

The answer is profoundly social and political, economic, and cultural. The United States is the only country in the world that, as public health policy, does not operate on the assumption of the single standard human.Moreover, by highlighting certain categories, there is the unassailable truth that other categories are thereby ignored. But more to the theoretical point, because each of the categories noted above has a potential or real biological base in either scientific or common sense understandings (Schutz 1962), when scientists report findings indicating differences, the danger is that these findings can seductively divert policymakers from seeking alternative interventions that could better address health disparities (Krieger 2011).The goal of Epstein’s monograph was to (a) better understand how ways of thinking about differences in human populations paved the way to try to “improve medical research by making it inclusive,” and (b) explain how and why the strategies of exclusiveness got institutionalized:

Academic researchers receiving federal funds, and pharmaceutical manufacturers hoping to win regulatory approval for their company''s products, are now enjoined to include women, racial and ethnic minorities, children, and the elderly as research subjects in many forms of clinical research … and question the presumption that findings derived from the study of any single group, such as middle-aged white men, might be generalized to other populations. (Epstein 2007, p. 5)

This shift has occurred only in the last two and a half decades, beginning with regulations that were developed first in 1986. Once again, it is important to restate the relatively unique feature of this development as it applies mainly to the United States (Epstein 2007, p. 7). The rest of the world has continued to act on the presupposition of the standard human, at least until now. As we shall see, that is about to change.     

Biological explanations and social responsibility

The aim of this paper is to show that critics of biological explanations of human nature may be granting too much to those who oppose such explanations when they argue that the truth of genetic determinism implies an end to critical evaluation and reform of our social institutions. This is the case because when we argue that biological determinism exempts us from social critique we are erroneously presupposing that our social values, practices, and institutions have nothing to do with what makes biological explanations troublesome. My argument is that what constitutes a problem for those who are concerned with social justice is not the fact that particular behaviours may be genetically determined, but the fact that our value system, and social institutions create the conditions that make such behaviours problematic. Thus, I will argue that even if genetic determinism were correct, the requirement of assessing and transforming our social practices and institutions would be far from superfluous. Biology is rarely destiny for human beings and the institutions they create.     

Advantages and limitations of nonhuman primates as animal models in genetic research on complex diseases

Abstract: The genetic similarity between humans and nonhuman primates makes nonhuman primates uniquely suited as models for genetic research on complex physiological and behavioral phenotypes. By comparison with human subjects, nonhuman primates, like other animal models, have several advantages for these types of studies: 1) constant environmental conditions can be maintained over long periods of time, greatly increasing the power to detect genetic effects; 2) different environmental conditions can be imposed sequentially on individuals to characterize genotype-environment interactions; 3) complex pedigrees that are much more powerful for genetic analysis than typically available human pedigrees can be generated; 4) genetic hypotheses can be tested prospectively by selective matings; and 5) essential invasive and terminal experiments can be conducted. Limitations of genetic research with nonhuman primates include cost and availability. However, the ability to manipulate both genetic and environmental factors in captive primate populations indicates the promise of genetic research with these important animal models for illuminating complex disease processes. The utility of nonhuman primates for biomedical research on human health problems is illustrated by examples concerning the use of baboons in studies of osteoporosis, alcohol metabolism, and lipoproteins.     

Insect societies and the molecular biology of social behavior

This article outlines the rationale for a molecular genetic study of social behavior, and explains why social insects are good models. Summaries of research on brain and behavior in two species, honey bees and fire ants, are presented to illustrate the richness of the behavioral phenomena that can be addressed with social insects and to show how they are beginning to be used to study genes that influence social behavior. We conclude by considering the problems and potential of this emerging field.     

Human genome research and the public interest: progress notes from an American science policy experiment.

This essay reviews the efforts of the U.S. Human Genome Project to anticipate and address the ethical, legal, and social implications of new advances in human genetics. Since 1990, approximately $10 million has been awarded by the National Institutes of Health and the Department of Energy, in support of 65 research, education, and public discussion projects. These projects address four major areas of need: (1) the need for both client-centered assessments of new genetic services and for improved knowledge of the psychosocial and ethnocultural factors that shape clients' clinical genetic experiences; (2) the need for clear professional policies regarding human-subject research, clinical practice standards, and public health goals in human genetics; (3) the need for social policy protection against unfair access to and use of personal genetic information; and (4) the need for improved public and professional understanding and discussion of these issues. The Human Genome Project's goal is to have defined, by 1995, policy options and programs capable of addressing these needs.     

Elephant behaviour and conservation: social relationships, the effects of poaching, and genetic tools for management

Genetic tools are increasingly valuable for understanding the behaviour, evolution, and conservation of social species. In African elephants, for instance, genetic data provide basic information on the population genetic causes and consequences of social behaviour, and how human activities alter elephants' social and genetic structures. As such, African elephants provide a useful case study to understand the relationships between social behaviour and population genetic structure in a conservation framework. Here, we review three areas where genetic methods have made important contributions to elephant behavioural ecology and conservation: (1) understanding kin-based relationships in females and the effects of poaching on the adaptive value of elephant relationships, (2) understanding patterns of paternity in elephants and how poaching can alter these patterns, and (3) conservation genetic tools to census elusive populations, track ivory, and understand the behavioural ecology of crop-raiding. By comparing studies from populations that have experienced a range of poaching intensities, we find that human activities have a large effect on elephant behaviour and genetic structure. Poaching disrupts kin-based association patterns, decreases the quality of elephant social relationships, and increases male reproductive skew, with important consequences for population health and the maintenance of genetic diversity. In addition, we find that genetic tools to census populations or gather forensic information are almost always more accurate than non-genetic alternatives. These results contribute to a growing understanding of poaching on animal behaviour, and how genetic tools can be used to understand and conserve social species.     

Should Deceased Donation be Morally Preferred in Uterine Transplantation Trials?

In recent years much research has been undertaken regarding the feasibility of the human uterine transplant (UTx) as a treatment for absolute uterine factor infertility (AUFI). Should it reach clinical application this procedure would allow such individuals what is often a much‐desired opportunity to become not only social mothers (via adoption or traditional surrogacy arrangements), or genetic and social mothers (through gestational surrogacy) but mothers in a social, genetic and gestational sense. Like many experimental transplantation procedures such as face, hand, corneal and larynx transplants, UTx as a therapeutic option falls firmly into the camp of the quality of life (QOL) transplant, undertaken with the aim, not to save a life, but to enrich one. However, unlike most of these novel procedures – where one would be unlikely to find a willing living donor or an ethics committee that would sanction such a donation – the organs to be transplanted in UTx are potentially available from both living and deceased donors. In this article, in the light of the recent nine‐case research trial in Sweden which used uteri obtained from living donors, and the assertions on the part of a number of other research teams currently preparing trials that they will only be using deceased donors, I explore the question of whether, in the case of UTx, there exist compelling moral reasons to prefer the use of deceased donors despite the benefits that may be associated with the use of organs obtained from the living.     

In search of the Holy Grail: Media discourse and the new human genetics

It has widely been recognized that the media play a key role in framing debates about genetic issues. This paper provides an overview of the major areas of debate within the social scientific literature on media, public understanding of science and human genetics. It evaluates current approaches to assessing the role of the media in influencing public policy debates. It argues that an analysis of the strategies of news sources should occupy a central role in furthering understanding about the ways in which various social actors seek to influence public policy agendas. At present, within the field of human genetics, only a handful of researchers have systematically examined the strategies of news sources from the perspective of the sources themselves. While recent research has focused upon identifying the major sources and how they are used in science reporting, there remains much to be done in uncovering the processes of negotiation and contestation among social actors prior to issues gaining media coverage.     

Between (Racial) Groups and a Hard Place: An Exploration of Social Science Approaches to Race and Genetics, 2000–2014

As the social sciences expand their involvement in genetic and genomic research, more information is needed to understand how theoretical concepts are applied to genetic data found in social surveys. Given the layers of complexity of studying race in relation to genetics and genomics, it is important to identify the varying approaches used to discuss and operationalize race and identity by social scientists. The present study explores how social scientists have used race, ethnicity, and ancestry in studies published in four social science journals from 2000 to 2014. We identify not only how race, ethnicity, and ancestry are classified and conceptualized in this growing area of research, but also how these concepts are incorporated into the methodology and presentation of results, all of which structure the discussion of race, identity, and inequality. This research indicates the slippage between concepts, classifications, and their use by social scientists in their genetics-related research. The current study can assist social scientists with clarifying their use and interpretations of race and ethnicity with the incorporation of genetic data, while limiting possible misinterpretations of the complexities of the connection between genetics and the social world.     

Anthropological insights into the use of race/ethnicity to explore genetic contributions to disparities in health

Anthropological insights into the use of race/ethnicity to explore genetic contributions to disparities in health were developed using in-depth qualitative interviews with editorial staff from nineteen genetics journals, focusing on the methodological and conceptual mechanisms required to make race/ethnicity a genetic variable. As such, these analyses explore how and why race/ethnicity comes to be used in the context of genetic research, set against the background of continuing critiques from anthropology and related human sciences that focus on the social construction, structural correlates and limited genetic validity of racial/ethnic categories. The analyses demonstrate how these critiques have failed to engage geneticists, and how geneticists use a range of essentially cultural devices to protect and separate their use of race/ethnicity as a genetic construct from its use as a societal and social science resource. Given its multidisciplinary, biosocial nature and the cultural gaze of its ethnographic methodologies, anthropology is well placed to explore the cultural separation of science and society, and of natural and social science disciplines. Anthropological insights into the use of race/ethnicity to explore disparities in health suggest that moving beyond genetic explanations of innate difference might benefit from a more even-handed critique of how both the natural and social sciences tend to essentialize selective elements of race/ethnicity. Drawing on the example of HIV/AIDS, this paper demonstrates how public health has been undermined by the use of race/ethnicity as an analytical variable, both as a cipher for innate genetic differences in susceptibility and response to treatment, and in its use to identify 'core groups' at greater risk of becoming infected and infecting others. Clearly, a tendency for biological reductionism can place many biomedical issues beyond the scope of public health interventions, while socio-cultural essentialization has tended to stigmatize 'unhealthy behaviours' and the communities where these are more prevalent.     

Genetic databases and pharmacogenetics: introduction

Since the inception of the Human Genome Project, human genetics has frequently been conducted through big science projects, combining academic, state and industrial methods, interests and resources. The legitimacy of such projects has been linked to national prestige and images of the nation, the purity of scientific endeavour, the entrepreneurial spirit, medical progress and the public health. A key complication in these discourses is that large-scale genetic research has yet to show major results when considered in terms of the objectives used to legitimate investment and social support for these projects. The main area showing promise at present is the developing field of pharmacogenetics, which is now attracting major industry and government investment. Sociological, ethical and philosophical study of human genetic sample-based research and pharmacogenetics has developed in parallel with inquiry in the biological and biomedical sciences. This paper introduces a symposium on the ethical and social aspects of this field of biomedical research.