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Other articles: April 2010

9 April 2010


Other papers this month:

Freeman, BD; Kennedy, CR; Frankel, HL; et al.,. Ethical considerations in the collection of genetic data from critically ill patients: What do published studies reveal about potential directions for empirical ethics research? PHARMACOGENOMICS JOURNAL 10 (2): 77-85 APR 2010

Critical illness trials involving genetic data collection are increasingly commonplace and pose challenges not encountered in less acute settings, related in part to the precipitous, severe and incapacitating nature of the diseases involved. We performed a systematic literature review to understand the nature of such studies conducted to date, and to consider, from an ethical perspective, potential barriers to future investigations. We identified 79 trials enrolling 24 499 subjects. Median (interquartile range) number of participants per study was 263 (116.75-430.75). Of these individuals, 16 269 (66.4%) were Caucasian, 1327 (5.4%) were African American, 1707 (7.0%) were Asian Pacific Islanders and 139 (0.6%) were Latino. For 5020 participants (20.5%), ethnicity was not reported. Forty-eight studies (60.8%) recruited subjects from single centers and all studies examined a relatively small number of genetic markers. Technological advances have rendered it feasible to conduct clinical studies using high-density genome-wide scanning. It will be necessary for future critical illness trials using these approaches to be of greater scope and complexity than those so far reported. Empirical research into issues related to greater ethnic inclusivity, accuracy of substituted judgment and specimen stewardship may be essential for enabling the conduct of such trials.


Fox, D. Retracing liberalism and remaking nature: designer children, research embryos, and featherless chickens. BIOETHICS 24 (4): 170-178 MAY 2010

Liberal theory seeks to achieve toleration, civil peace, and mutual respect in pluralistic societies by making public policy without reference to arguments arising from within formative ideals about what gives value to human life. Does it make sense to set aside such conceptions of the good when it comes to controversies about stem cell research and the genetic engineering of people or animals? Whether it is reasonable to bracket our worldviews in such cases depends on how we answer the moral questions that the use of these biotechnologies presuppose. I argue that the moral language of liberal justice – of rights and duties, interests and opportunities, freedom and consent, equality and fairness – cannot speak to these underlying concerns about what the human embryo is, why the natural lottery matters to us, and whether ‘animal nature’ is worth preserving. I conclude that liberal theory is incapable of furnishing a coherent or desirable account to govern the way we use our emerging powers of biotechnology.


Kim, AE; Kumanyika, S; Shive et al., Coverage and Framing of Racial and Ethnic Health Disparities in US Newspapers, 1996-2005. AMERICAN JOURNAL OF PUBLIC HEALTH 100: S224-S231 Suppl. 1 2010

Objectives. We examined how causes of and solutions to racial/ethnic health disparities are covered and framed in newspapers over time. Methods. We used LexisNexis to identify articles on racial/ethnic health disparities published from 1996 through 2005 in 40 US newspapers. We coded articles for diseases and racial/ethnic groups mentioned; whether causes and solutions were framed as genetic, behavioral, health care, or societal responsibility; and whether a social-justice rationale for eliminating racial/ethnic health disparities was invoked. Results. We identified 3823 racial/ethnic health disparity articles. Coverage peaked in 1998 and has declined since. Disparities in HIV/AIDS, cardiovascular disease, and cancer generated the most coverage. Articles focused primarily on African Americans. Only 30% of articles provided causal or solution explanations, with academic researchers providing the most causal explanations and advocacy groups providing the most solutions. For both causes and solutions, behavioral explanations dominated the discourse, followed by societal, health care, and genetic explanations. Only 4% of articles invoked a social-justice rationale. Conclusions. The dominance of behavioral explanations may limit public support for policy solutions to eliminate racial/ethnic health disparities. Future research should examine the design and dissemination of effective messages about the social determinants of health.


GN; Jordens, CFC; Kerridge, I. Direct-to-consumer personal genome testing: ethical and regulatory issues that arise from wanting to ‘know’ your DNA. INTERNAL MEDICINE JOURNAL 40 (3): 220-224 MAR 2010

Direct-to-consumer personal genome testing (DTC-PGT) screens a customer’s genome for the presence of single nucleotide polymorphisms that are reported to be associated with various diseases, disease risk factors and personal characteristics. The range of health risks covered by personal genome testing (PGT) includes cancer, heart disease, obesity, diabetes mellitus and osteoporosis. PGT also detects a range of other characteristics, such as alcohol ‘flush reaction’, eye colour, ear wax type and bitter taste perception. Information about ancestry and family history is also available. Although DTC-PGT is still a relatively new enterprise, the technology has the potential for rapid expansion as it becomes more accessible to consumers who wish to obtain information about their genetic profile. This review provides an overview of the broader ethical and regulatory issues raised by personal genome tests that are marketed directly to the public, and that purport to provide information about health risks. We discuss the emergence of DTC-PGT in Australia, and the possible regulatory responses that may be taken to manage it.


Kaye, J; Boddington, P; de Vries, J et al., Ethical implications of the use of whole genome methods in medical research. EUROPEAN JOURNAL OF HUMAN GENETICS 18 (4): 398-403 APR 2010

The use of genome-wide association studies (GWAS) in medical research and the increased ability to share data give a new twist to some of the perennial ethical issues associated with genomic research. GWAS create particular challenges because they produce fine, detailed, genotype information at high resolution, and the results of more focused studies can potentially be used to determine genetic variation for a wide range of conditions and traits. The information from a GWA scan is derived from DNA that is a powerful personal identifier, and can provide information not just on the individual, but also on the individual’s relatives, related groups, and populations. Furthermore, it creates large amounts of individual-specific digital information that is easy to share across international borders. This paper provides an overview of some of the key ethical issues around GWAS: consent, feedback of results, privacy, and the governance of research. Many of the questions that lie ahead of us in terms of the next generation sequencing methods will have been foreshadowed by GWAS and the debates around ethical and policy issues that these have created.


Wermter, AK; Laucht, M; Schimmelmann, BG et al., From nature versus nurture, via nature and nurture, to gene x environment interaction in mental disorders. EUROPEAN CHILD & ADOLESCENT PSYCHIATRY 19 (3): 199-210 Sp. Iss. SI MAR 2010

It is now generally accepted that complex mental disorders are the results of interplay between genetic and environmental factors. This holds out the prospect that by studying G x E interplay we can explain individual variation in vulnerability and resilience to environmental hazards in the development of mental disorders. Furthermore studying G x E findings may give insights in neurobiological mechanisms of psychiatric disorder and so improve individualized treatment and potentially prevention. In this paper, we provide an overview of the state of field with regard to G x E in mental disorders. Strategies for G x E research are introduced. G x E findings from selected mental disorders with onset in childhood or adolescence are reviewed [such as depressive disorders, attention-deficit/hyperactivity disorder (ADHD), obesity, schizophrenia and substance use disorders]. Early seminal studies provided evidence for G x E in the pathogenesis of depression implicating 5-HTTLPR, and conduct problems implicating MAOA. Since then G x E effects have been seen across a wide range of mental disorders (e.g., ADHD, anxiety, schizophrenia, substance abuse disorder) implicating a wide range of measured genes and measured environments (e.g., pre-, peri- and postnatal influences of both a physical and a social nature). To date few of these G x E effects have been sufficiently replicated. Indeed meta-analyses have raised doubts about the robustness of even the most well studied findings. In future we need larger, sufficiently powered studies that include a detailed and sophisticated characterization of both phenotype and the environmental risk.


van der Vorm, A; van der Laan, AL; Borm, G et al., Experts’ opinions on ethical issues of genetic research into Alzheimer’s disease: results of a Delphi study in the Netherlands. CLINICAL GENETICS 77 (4): 382-388 APR 2010

Most publications on the ethical aspects of genetic research into Alzheimer’s Disease (AD) concentrate on the differences between the opinions of professionals and non-professionals. Differences in rating of morally relevant issues between groups of professionals have not yet been described. A modified Delphi study in two rounds was held to identify differences between groups of experts (i.e. clinicians, representatives of patient organisations, ethicists and persons with a commercial background). The strongest correlation was found between the opinions of ethicists and representatives of patient organisations (0.67) and between clinicians and ethicists (0.62). Moderate correlation (0.55) was found between the opinions of clinicians and representatives of patient organisations. Persons with a commercial background showed a weak correlation with clinicians (0.41), ethicists (0.35) and representatives of patient organisations (0.30). These differences in rating of morally relevant issues between various professional groups are relevant for clinical practice and dementia care, particularly the different rating of prenatal diagnosis found between clinicians and representatives of patient organisations. Interdisciplinary consultations between various professional groups -including at least researchers, clinicians and ethicists -are recommended to guarantee that all considerations will be incorporated into the debate on ethical issues of genetic research into AD.


Hedgecoe, A. Bioethics and the Reinforcement of Socio-technical Expectations. SOCIAL STUDIES OF SCIENCE 40 (2): 163-186 APR 2010

Over the past few years, considerable interest has been paid to the way in which social expectations (hopes, hypes, fears) about new genomic technologies help shape, and in themselves are shaped by, emerging technologies, regulatory regimes and social concerns. In comparison, little attention has been paid to the role of expectations in related, but non-scientific discourses, such as bioethics. Drawing on a review of publications addressing the ethical issues associated with pharmacogenetics, this paper presents a detailed critique of bioethicists’ contribution to these debates. The review highlights how, almost a decade after bioethical debate around pharmacogenetics started, and in contrast to the profession’s self-perception as a form of regulator, bioethicists still largely restrict themselves to reviews of possible ethical issues raised by this technology, rather than critiquing others’ positions and arguing for specific points of view. In addition the paper argues that bioethicists tend to: accept unquestioningly scientists’ expectations about the development and ethical issues raised by pharmacogenetics; ignore contributions from bioethicists who do question these expectations; and engage in an ethical debate, the boundaries of which have been laid down and defined by academic and industry scientists. The paper concludes by offering some possible explanations for why the bioethical discourse has taken this form.


Moore, A. Public bioethics and public engagement: the politics of “proper talk”. PUBLIC UNDERSTANDING OF SCIENCE 19 (2): 197-211 MAR 2010

This article uses notions of “public talk” and “regulation as facilitation” to develop an account of public bioethics in the UK as a form of scientific governance drawing on document analysis and expert interviews. First this article will show the “ethical” problematization of scientific governance in the UK through the emergence of the Human Genetics Commission (HGC), Nuffield Council on Bioethics (NCB), and Human Fertilisation and Embryology Authority (HFEA). Second, it will argue that an “ethical” model has emerged alongside and partially displaced a “technical” model of expertise in scientific governance. The article will introduce the notion of “proper talk,” a set of techniques for facilitating ethical debate, characterized by the active elicitation of public engagement and the inclusion of emotions and subjectivity. The article then questions whether the authority to categorize publics and identify “proper” ethical positions reintroduces problems of expertise in a new form.


Longstaff, H; Burgess, MM. Recruiting for representation in public deliberation on the ethics of biobanks. PUBLIC UNDERSTANDING OF SCIENCE 19 (2): 212-224 MAR 2010

This paper addresses the dilemmas of participant sampling and recruitment for deliberative science policy projects. Results are drawn from a deliberative public event that was held in April and May, 2007. The research objective of The BC Biobank Deliberation was to assess deliberative democracy as an approach to legitimate policy advice from a subset of British Columbians concerning the secondary use of human tissues for prospective genomic and genetic research. The overall goal was to have participants identify key values that should guide a biobank in British Columbia. This paper assesses our team’s group decision-making processes concerning participant sampling for the 2007 event. Results presented here should allow the reader to critically examine our team’s choices and could also be used to assist advocates of deliberative democracy and others who may wish to propose similar events in the future.


Denier, Y. From Brute Luck to Option Luck? On Genetics, Justice, and Moral Responsibility in Reproduction. JOURNAL OF MEDICINE AND PHILOSOPHY 35 (2): 101-129 APR 2010

The structure of our ethical experience depends, crucially, on a fundamental distinction between what we are responsible for doing or deciding and what is given to us. As such, the boundary between chance and choice is the spine of our conventional morality, and any serious shift in that boundary is thoroughly dislocating. Against this background, I analyze the way in which techniques of prenatal genetic diagnosis (PGD) pose such a fundamental challenge to our conventional ideas of justice and moral responsibility. After a short description of the situation, I first examine the influential luck egalitarian theory of justice, which is based on the distinction between choice and luck or, more specifically, between option luck and brute luck, and the way in which it would approach PGD (section II), followed by an analysis of the conceptual incoherencies (in section III) and moral problems (in section IV) that come with such an approach. Put shortly, the case of PGD shows that the luck egalitarian approach fails to express equal respect for the individual choices of people. The paradox of the matter is that by overemphasizing the fact of choice as such, without regard for the social framework in which they are being made, or for the fundamental and existential nature of particular choices-like choosing to have children and not to undergo PGD or not to abort a handicapped fetus-such choices actually become impossible.


Tremblay, RE. Developmental origins of disruptive behaviour problems: the ‘original sin’ hypothesis, epigenetics and their consequences for prevention. JOURNAL OF CHILD PSYCHOLOGY AND PSYCHIATRY 51 (4): 341-367 APR 2010

This paper reviews publications on developmental trajectories of disruptive behaviour (DB) problems (aggression, opposition-defiance, rule breaking, and stealing-vandalism) over the past decade. Prior to these studies two theoretical models had strongly influenced research on DB: social learning and disease onset. According to these developmental perspectives, children learn DB from their environment and onset of the disease is triggered by accumulated exposition to disruptive models in the environment, including the media. Most of the evidence came from studies of school age children and adolescents. Longitudinal studies tracing developmental trajectories of DB from early childhood onwards suggest an inversed developmental process. DB are universal during early childhood. With age, children learn socially acceptable behaviours from interactions with their environment. A ‘disease’ status is given to children who fail to learn the socially acceptable behaviours. The mechanisms that lead to deficits in using socially accepted behaviours are strongly intergenerational, based on complex genetic and environmental contributions, including epigenetic mechanisms. Prevention of these deficits requires early, intensive and long-term support to parents and child. Newly discovered epigenetic mechanisms suggest that intensive perinatal interventions will have impacts on numerous aspects of physical and mental health, including DB. This review also concludes that: a) subtypes of disruptive behaviours should not be aggregated because they have different developmental trajectories and require specific corrective interventions; b) the overt-covert and destructive-nondestructive dimensions appear the most useful to create DB subtypes; c) overt DB onset before covert DB because the latter require more brain maturation; d) DB subtype taxonomies are more useful for clinicians than developmental taxonomies because the latter are post mortem diagnoses and clinicians’ retrospective information is unreliable; e) we need large-scale collaborative preventive experimental interventions starting during early pregnancy to advance knowledge on causes and prevention of DB problems.


Enns, EE; Boudreault, P; Palmer, CGS. Examining the Relationship Between Genetic Counselors’ Attitudes Toward Deaf People and the Genetic Counseling Session. JOURNAL OF GENETIC COUNSELING 19 (2): 161-173 APR 2010

Given the medical and cultural perspectives on deafness it is important to determine if genetic counselors’ attitudes toward deaf people can affect counseling sessions for deafness genes. One hundred fifty-eight genetic counselors recruited through the National Society of Genetic Counselors Listserv completed an online survey assessing attitudes toward deaf people and scenario-specific comfort levels discussing and offering genetic testing for deafness. Respondents with deaf/Deaf friends or who work in prenatal or pediatric settings had more positive attitudes toward deaf people than those without deaf/Deaf friends or those working in ‘other’ settings. More positive attitudes toward deaf people correlated with higher comfort level talking about genetic testing for the two scenarios involving culturally Deaf clients; and correlated with higher comfort level offering genetic testing to culturally Deaf clients wishing to have a deaf child. Attitudes and comfort level were not correlated in the scenarios involving hearing or non-culturally deaf clients. These results suggest that genetic counselors’ attitudes could affect information provision and the decision making process of culturally Deaf clients. Cultural sensitivity workshops in genetic counseling training programs that incorporate personal interactions with culturally Deaf individuals are recommended. Additional suggestions for fostering personal interactions are provided.


Dye, DE; Youngs, L; McNamara, B et al., The Disclosure of Genetic Information: A Human Research Ethics Perspective. JOURNAL OF BIOETHICAL INQUIRY 7 (1): 103-109 MAR 2010

Increasing emphasis on genetic research means that growing numbers of human research projects in Australia will involve complex issues related to genetic privacy, familial information and genetic epidemiology. The Office of Population Health Genomics (Department of Health, Western Australia) hosted an interactive workshop to explore the ethical issues involved in the disclosure of genetic information, where researchers and members of human research ethics committees (HRECs) were asked to consider several case studies from an ethical perspective. Workshop participants used a variety of approaches to examine the complex ethical issues encountered, but did not consistently refer to the values and principles outlined in the National Statement on Ethical Conduct in Human Research (NHMRC 2007) or apply rational ethical approaches. Overall, the data suggested that both researchers and HREC members may benefit from further education and support regarding the application of ethical frameworks to the issues encountered in genetic research.


Saukko, PM; Reed, M; Britten, N et al. Negotiating the boundary between medicine and consumer culture: Online marketing of nutrigenetic tests. SOCIAL SCIENCE & MEDICINE 70 (5): 744-753 MAR 2010

Genomics researchers and policy makers have accused nutrigenetic testing companies-which provide DNA-based nutritional advice online-of misleading the public. The UK and USA regulation of the tests has hinged on whether they are classed as “medical” devices, and alternative regulatory categories for “lifestlyle” and less-serious genetic tests have been proposed. This article presents the findings of a qualitative thematic analysis of the webpages of nine nutrigenetic testing companies. We argue that the companies, mirroring and negotiating the regulatory debates, were creating a new social space for products between medicine and consumer culture. This space was articulated through three themes: (i) how “genes” and tests were framed, (ii) how the individual was imagined vis a vis health information, and (iii) the advice and treatments offered. The themes mapped onto four frames or models for genetic testing: (i) clinical genetics, (ii) medicine, (iii) intermediate, and (iv) lifestyle. We suggest that the genomics researchers and policy makers appeared to perform what Gieryn (Gieryn, T.F (1983). Boundary-work and the demarcation of science from non-science: strains and interests in professional ideologies of scientists. American Sociological Review. 48, 781-795.) has termed “boundary work”, i.e., to delegitimize the tests as outside proper medicine and science. Yet, they legitimated them, though in a different way, by defining them as lifestyle, and we contend that the transformation of the boundaries of science into a creation of such hybrid or compromise categories is symptomatic of current historical times. Social scientists studying medicine have referred to the emergence of “lifestyle” products. This article contributes to this literature by examining the historical, regulatory and marketing processes through which certain goods and services become defined this way.


Penn, C; Watermeyer, J; MacDonald, C et al. Grandmothers as Gems of Genetic Wisdom: Exploring South African Traditional Beliefs About the Causes of Childhood Genetic Disorders. JOURNAL OF GENETIC COUNSELING 19 (1): 9-21 FEB 2010

With its diverse cultural and linguistic profile, South Africa provides a unique context to explore contextual influences on the process of genetic counseling. Prior research suggests intergenerational differences regarding models of causation which influence treatment-seeking paths. This pilot study therefore aimed to explore South African traditional beliefs regarding common childhood genetic disorders. Three focus groups were conducted with fifteen grandmothers from different cultural backgrounds in an urban community. Questions pertained to the role of the grandmother, traditional beliefs regarding causes of genetic disorders, explanations of heredity, and prevention and management of genetic disorders. Results indicate a variety of cultural explanations for causes of childhood genetic disorders. These causes can be classified into categories related to lifestyle, behavior, social issues, culture, religion, genetic, and familial causes. Prevention and treatment issues are also highlighted. These findings have implications for genetic counseling practice, which needs to include a greater focus on cultural issues.


Klitzman, R. Views of Discrimination among Individuals Confronting Genetic Disease. JOURNAL OF GENETIC COUNSELING 19 (1): 68-83 FEB 2010

Though the US passed the Genetic Information Non-Discrimination Act, many questions remain of how individuals confronting genetic disease view and experience possible discrimination. We interviewed, for 2 hours each, 64 individuals who had, or were at risk for, Huntington’s Disease, breast cancer, or Alpha-1 antitrypsin deficiency. Discrimination can be implicit, indirect and subtle, rather than explicit, direct and overt; and be hard to prove. Patients may be treated “differently” and unfairly, raising questions of how to define “discrimination”, and “appropriate accommodation”. Patients were often unclear and wary about legislation. Fears and experiences of discrimination can shape testing, treatment, and disclosure. Discrimination can be subjective, and take various forms. Searches for only objective evidence of it may be inherently difficult. Providers need to be aware of, and prepared to address, subtle and indirect discrimination; ambiguities, confusion and potential limitations concerning current legislation; and needs for education about these laws. Policies are needed to prevent discrimination in life, long-term care, and disability insurance, not covered by GINA.

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