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Center NewsPaul Steven Miller has stepped down from the CGREAL External Advisory Board in order to join the Obama Administration as a Special Assistant to the President in The White House. He will be managing the political appointments process within the Department of Justice and for lawyers throughout the new administration, leading the political appointments process for the Department of Education and other regulatory agencies, and managing the appointments process for political positions that directly impact disabled people and disability programs through the government. Congratulations!
OpportunitiesCall For Abstracts International Conference The aim of this conference is to explore some of the complex and challenging issues that are linked to the ethical, legal and social issues related to biobanking. The American Society for Bioethics and Humanities' 11th Annual Meeting is scheduled for October 15-18, 2009, in Washington, DC at the Hyatt Regency Capitol Hill. Scholars are invited to address the issues of translation in the medical humanities and bioethics. Conferences & Meetings
Clinical Medicine in the Genomic Era 8th IAS-STS Conference 2009 on "Critical Issues in Science and Technology Studies" International Conference First Annual Consumer Genetics Show Summer Institute in Public Health Genetics: Translating Genomics into Policy and Practice June 22-26, 2009 Seattle, Washington History of Genetics Conference
ResourcesCenters for Excellence in ELSI Research (CEER) Bibliographic database of audiovisuals, books, and articles, many of which are indexed using the Bioethics Thesaurus for Genetics.
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"));Genetics in the News
Genetic information personalizes warfarin prescribing "Now, in one of the first illustrations of "personalized medicine" based on genetic information, an international research team has created a model to help doctors determine the best dose of the blood-thinning drug for each patient. ..."
States expand newborn screening for life-threatening disorders "All 50 states and the District of Columbia now require that every baby be screened for 21 or more of the 29 serious genetic or functional disorders on the uniform panel recommended by the American College of Medical Genetics and endorsed by the March of Dimes. ..."
The Evolution of Art "We may be genetically predisposed to appreciate listening to Sinatra or staring at a Seurat. ..."
Are "smart" designer dogs on the way? "But new discoveries in dog genetics could provide dog breeders with far more control in selecting for traits such as size, colour, perhaps even temperament. ..."
A Baby, Please. Blond, Freckles -- Hold the Colic "Laboratory Techniques That Screen for Diseases in Embryos Are Now Being Offered to Create Designer Children ..."
Francis Collins Addresses State of Personalized Medicine | GenomeWeb Daily News | DxPGx | GenomeWeb "In order for personalized medicine to progress as many US researchers want it to, it will require a more focused commitment from better informed federal agencies, smarter collaborations across public and private sectors, bigger studies and bolder science, and intelligent changes in the healthcare system overall, former Director of the National Human Genome Research Institute Francis Collins said this week. ..."
23andMe Adds BRCA Breast/Ovarian Cancer Testing to Service | Pharmacogenomics Reporter | GenomeWeb "In a statement to Pharmacogenomics Reporter, 23andMe stressed that offering BRCA testing does not mean the firm is moving into the medical genetic-testing space. ..."
Gene testing application deadline nears : North County Times "The Feb. 28 deadline is approaching to enroll in a study of how personal genetic makeup affects health, but there's plenty of room for last-minute applicants. ..."
Mixed population provides insights into human genetic makeup "Genetic diseases and genetically mixed populations can help researchers understand human diversity and human origins ..."
Why Not Bring a Neanderthal to Life? - TierneyLab Blog - NYTimes.com "So why not do it? Why not give Harvard’s George Church the money he says could be used to resurrect a Neanderthal from DNA? ..."
New genomic test can personalize breast cancer treatment "Using this 50-gene set, oncologists can potentially predict the most effective therapy for each breast tumor type and thereby personalize breast cancer treatment for all patients. ..."
Study: Genetic risk for substance use can be neutralized by good parenting "A genetic risk factor that increases the likelihood that youth will engage in substance use can be neutralized by high levels of involved and supportive parenting. The study s the first to examine a group of youth over time to see how a genetic risk factor interacts with a child's environment to influence behavior. ..."
Genome sequencing: the third generation : Nature News "Genome researchers gathered in a Florida hotel on 5 February, hoping to see whether companies that build 'third-generation' sequencing technologies can deliver on stunning claims such as sequencing human genomes in three minutes or selling them for $5,000. Although scientists were cautiously optimistic about the data unveiled, they still have major questions about how well this next generation of machines will work. ..."
Genetics in the Literature
(2008). "Genomics." Health Affairs 27(6): 1599-1599.
(2008). "The Evidence Dilemma In Genomic Medicine." Health Affairs 27(6): 1600-1611.
(2009). "Racial distribution of patient population and family physician endorsed importance of screening patients for inherited predisposition to cancer." J Health Care Poor Underserved 20(1): 50-4.
"Uptake of genetic testing is higher among racial majority versus minority patients for reasons that remain unclear. Primary care physicians represent the front line of screening for inherited cancer risk. We surveyed family physicians enrolled in the Massachusetts Practice Based Research Network to assess whether their attitudes about cancer-predictive genetic testing related to the race of their patients. Among the 65 physicians who responded (91.5% response rate), those whose practices had higher proportions of White patients were more likely to strongly endorse the value of screening for inherited cancer risk (ORadj 3.18, 95% CI 1.05, 9.66). These findings, though limited by use of a small convenience sample, suggest that clinical attention to screening for genetic cancer risk is greater in practices serving fewer racial minority patients. More research is necessary to confirm these findings and to determine whether these factors affect disparities in genetic testing and health outcomes. ..."
(2009). "Mostly, your results matter to others." Nat Genet 41(2): 135-135.
"High-throughput datasets and analysis protocols are intrinsically difficult to referee. Community standards enforced by journals may be less effective than is widely appreciated. Greater awareness of the needs and value of secondary data users can result in higher-impact papers. ..."
"This essay examines the efforts of social scientists and humanities scholars to teach students at a major US medical school about `race'. The objectives were to explain that race is no longer considered a biologically legitimate concept and to demonstrate that race remains an influential social classification, causing social and biological harm. That is, these educators sought to reframe the medical significance of race. An examination of the email discussions of those involved in this teaching exercise (which included the author) reveals concerns over the credibility of social scientists and humanities scholars speaking on genetics in the modern medical school. It also indicates the intellectual and curricular marginalization of critiques of racial classification in medical education. In science studies journals one can read convincing deconstructions of the new genetics of race, but it is rare to find an analysis of how ideas about race figure in the mundane practice of educating future medical doctors and researchers. Through examination of an exemplary, wide-ranging discussion of an attempt to teach on race in the medical curriculum, this essay addresses the disciplinary and institutional difficulties of translating critiques of controversial science into pedagogy. ..."
"The article discusses the application of the legal doctrine of informed consent as a model for voluntariness of consent to human subjects research. Informed consent to research derives from a legal doctrine that calls for potential research subjects to have meaningful choice, and it comprises three elements that include relevant information on voluntariness that is provided to a person who is competent to make a decision, and who is situated to do so voluntarily. The article describes the constraints on voluntariness that may appear in the research setting and suggests a research agenda to advance understanding of voluntariness in practice. ..."
" In the present paper we extend our previous research into parental accounts of childhood genetic testing and explore the ethical accounts of professionals in research interviews. Interviews (n = 20) were conducted with professional practitioners involved in the genetic diagnosis and management of children and their families. We first identify four inter-related themes—juxtaposition of parental rights vis-à-vis child’s autonomy, elicitation of the child’s autonomy, avoidance of parental responsibility and recognition of professional uncertainty. Then, using Rhetorical Discourse Analysis, we examine the range of discourse devices through which ethical accounts are situationally illustrated: contrast, reported speech, constructed dialogue, character and event work. An overarching device in these ethical accounts is the use of extreme case scenarios, which reconstruct dilemmas as justifications of professional conduct. While acknowledging ambivalence, our analysis suggests that professional judgement is not a simple matter of implementing ethical principles but rather of managing the practical conditions and consequences of interactions with parents and children. We conclude that more attention is needed to understand the way professional practitioners formulate judgements about ethical practice. ..."
"Background: This paper presents the results of an exploratory qualitative study that assesses Canadian pediatric researchers' perceptions of a pre-selected group of ethical issues raised by pharmacogenomics research with children. Methods: As a pilot study, we conducted semi-structured telephone interviews with Canadian pediatric pharmacogenomic researchers. The interviews were guided by the following themes: (1) benefits and risks of inclusion, (2) the consent/assent process, and (3) the return of research results. Results: Issues about assent, consent, risks and benefits, as well as the communication of results were addressed by the respondents. Some issues, such as the unique vulnerability of children, the long term privacy concerns associated with biobanking, additional core elements that need to be discussed and included in the consent/assent forms, as well as the challenges of communicating research results in a pediatric research were not explicitly identified by the respondents. Conclusion: Further consideration should be given to address the ethical challenges of including children in pharmacogenomics research. This exploratory study indicates that further guidance is needed if children are to be protected and yet benefit from such research. ..."
"In this paper we address the ethical challenges of research on cytoplasmic hybrid embryos, or "cybrids". The controversial pronouncement of the UK's Human Embryology and Fertilisation Authority of September 2007 on the permissibility of this area of research is the starting point of our discussion, and we argue in its favour. By a rigorous definition of the entities at issue, we show how the terms "chimera" and "hybrid" are improper in the case of cybrids, and how their use can bias the debate creating moral prejudices. After analysing the scientific aspects of cybrids research and sketching out current alternatives, we enter the ethical debate, starting from the premise that research on early human embryos is ethically permissible under some circumstances. We emphasise how research on cybrids has positive consequences in terms of scientific and therapeutic applications, since it allows the derivation of human embryonic stem cells genetically tailored to the somatic cell donor. Such cell lines offer a unique in vitro model both for studies of human pathogenesis and for drug screening and discovery. Research on cybrids also circumvents the problem of the scarcity of human oocytes and their ethically dubious donation. Finally, we object to the most common arguments against cybrids research, that is, moral repugnance, the slippery slope argument, the appeal to "nature", and the unfair distribution of economical resources. ..."
"Genomics technologies, notwithstanding rising complexity and low productivity to date, once translated to clinical care, promise significantly improved outcomes through cost-effective interventions and prevention. But, along the way, every business model and every stakeholder group will be challenged to adapt to the disruptions that will arise as our health care system seeks to embrace those technologies. This paper identifies many of the key issues and stakeholders to be directly effected, including payers, providers, and suppliers. An even greater challenge faces public policy makers if these technologies are to be optimized. Many of these issues are raised as well. Finally, the point is made that the greatest barriers are not necessarily raised by stakeholders but rather arise from the deepening complexity of the science itself, requiring a long-term, large, and consistent research commitment from both the public and private sectors -- a commitment made harder by the indisputable need to reform the current health care system. ..."
"The most frequently discussed role for genetic engineering is in relation to medicine, and a second area which provokes discussion is the use of genetic engineering as an enhancement technology. But one neglected area is the potential use of genetic engineering to increase human spiritual and religious experience - or genospirituality. If technologies are devised which can conveniently and safely engineer genes causal of spiritual and religious behaviours, then people may become able to choose their degree of religiosity or spiritual sensitivity. For instance, it may become possible to increase the likelihood of direct religious experience - i.e. [`]revelation': the subjective experience of communication from the deity. Or, people may be able to engineer [`]animistic' thinking, a mode of cognition in which the significant features of the world - such as large animals, trees, distinctive landscape features - are regarded as sentient and intentional beings; so that the individual experiences a personal relationship with the world. Another potentially popular spiritual ability would probably be shamanism; in which states of altered consciousness (e.g. trances, delirium or dreams) are induced and the shaman may undergo the experience of transformations, [`]soul journeys' and contact with a spirit realm. Ideally, shamanistic consciousness could be modulated such that trances were self-induced only when wanted and when it was safe and convenient; and then switched-off again completely when full alertness and concentration are necessary. It seems likely that there will be trade-offs for increased spirituality; such as people becoming less [`]driven' to seek status and monetary rewards - as a result of being more spiritually fulfilled people might work less hard and take more leisure. On the other hand, it is also possible that highly moral, altruistic, peaceable and principled behaviours might become more prevalent; and the energy and joyousness of the best churches might spread and be strengthened. Overall, genospirituality would probably be used by people who were unable to have the kind of spiritual or religious experiences which they wanted (or perhaps even needed) in order to lead the kind of life to which they aspired. ..."
"Initial enthusiasm for the potential of pharmacogenomics (PGx) to transform medical practice has been tempered by the reality that the process of biomarker discovery, validation, and clinical qualification has been disappointingly slow, with a limited number of PGx tests entering the marketplace since the initial publication of the human genome sequence. Reasons for the delays include the complexity of the underlying science as well as clinical, economic, and organizational barriers to the effective delivery of personalized health care. Nevertheless, payers are interested in using PGx services to ensure that drug use is safer and more effective, particularly in the settings of medications that are widely used, have significant risks of serious adverse events, have poor or highly variable drug response, or are very expensive. However, public and private payers have specific evidence requirements for new health care technologies that must be met prior to obtaining favorable coverage and reimbursement status. These evaluation criteria are frequently more rigorous than the current level of evidence required for regulatory approval of new PGx tests or PGx-related drug labeling. To support payer decision-making, researchers will need to measure the impact of PGx testing on clinical and economic outcomes and demonstrate the net benefit of PGx testing as compared to usual care. By linking payer information needs with the current PGx research agenda, there is the opportunity to develop the data required for informed decision-making. This strategy will increase the likelihood that PGx services will be both reimbursed and used appropriately in clinical practice. ..."
"The purpose of this paper is to explore the impact that developments in transhumanist technologies may have upon human cultures (and thus upon the lifeworld), and to do so by exploring a potential debate between Habermas and the transhumanists. Transhumanists, such as Nick Bostrom, typically see the potential in genetic and other technologies for positively expanding and transcending human nature. In contrast, Habermas is a representative of those who are fearful of this technology, suggesting that it will compound the deleterious effects of the colonisation of the lifeworld, further constraining human autonomy and undermining the meaningfulness of the lifeworld by expanding the technological control and manipulation of humanity. It will be argued that these opposed positions are grounded in fundamentally different understandings of the consequences of scientific and technological advance. On one level, the transhumanists remain confident that the lifeworld has within it the resources necessary to find meaning and purpose in a society deeply infused by genetic technology. Habermas disagrees. On another level, the difference is articulated by Horkheimer and Adorno in Dialectic of Enlightenment, primarily by challenging what may be understood as a Baconian faith in science as a project for the domination of nature (where nature is an infinitely malleable material, to be dominated and shaped, without adverse consequences, purely for the purposes of human survival). While the transhumanists broadly embrace this faith, Habermas returns to something akin to Horkheimer and Adorno’s pessimistic scepticism. ..."
"Recent debates concerning the biomedical meaning and significance of race have paid relatively little attention to the practical implications of new policies in the US mandating the inclusion of racial and ethnic minorities (along with other `underrepresented groups') as research subjects in clinical studies. I argue that pressures to enroll underrepresented groups have stimulated the development in the US of an auxiliary science I term `recruitmentology': an empirical body of studies scientifically evaluating the efficacy of various social, cultural, psychological, technological, and economic means of convincing people (especially members of `hard-to-recruit populations') that they want to become, and remain, human subjects. Via the filtering of social scientific frameworks into the clinical research domain, recruitmentology has promoted hybrid ways of thinking about race -- awkward encounters in which depictions of race as a bounded, quasi-biological medical and administrative category sit uneasily alongside an interest in understanding racial identities and communities as sociocultural phenomena. I analyze how recruitmentologists, in addressing the mandate to recruit racially diverse subject populations, conceptualize race while simultaneously grappling with problems of trust, collective memory, and participation. I also examine how the increasingly transnational character of biomedical research is intensifying the exploitative dimensions of recruitment while further transforming the racialized character of human experimentation. This analysis highlights the tensions underlying projects to eliminate health disparities by race. ..."
Fau, S. G., Y. Joly, et al. "An ethical and legal overview of pharmacogenomics: perspectives and issues." Med Law. 2008 Dec;27(4):843-57.
"Pharmacogenomics, a field of study at the interface of the disciplines of genomics and pharmacology, strives to understand the interaction between genes and the response to therapeutics. Its introduction into clinical research trials and medical practice promises to optimize the effectiveness of medications, reduce the adverse effects experienced by patients, and improve the research and development of new therapeutics. However, while pharmacogenomics promises tremendous health benefits it is still crucial to critically analyze the ethical, social and legal issues surrounding these developments. First, we present the numerous potential benefits ofpharmacogenomics. Then, using a thorough review of relevant jurisprudence, policies and literature, the main ethical, social and legal issues associated with pharmacogenomics will be identified. The likely new responsibilities for health care professionals and pharmaceutical companies as a result of pharmacogenomic development will also be discussed. ..."
Fausto-Sterling, A. (2008). "The Bare Bones of Race." Social Studies of Science 38(5): 657-694.
"In this paper I examine claims of racial difference in bone density and find that the use and definitions of race in medicine lack a theoretical foundation. My central argument is that the social produces the biological in a system of constant feedback between body and social experience. By providing a different angle of vision on claimed racial differences I hope to move the conversation away from an ultimately futile discussion of nature versus nurture, where time is held constant and place seen as irrelevant, and begin to build a new paradigm for examining the contributions of geographic ancestry, individual lifecycle experience, race, and gender to varied patterns of health and disease. ..."
Fernandez, C. (2008). "Public expectations for return of results--time to stop being paternalistic?" Am J Bioeth 8(11): 46-8.
"This special issue of Studies of Science highlights ongoing debates concerning race, genomics, and disease. Some of the papers examine the production of disease etiology research, pharmaceutical drug response, or DNA genealogy tests, while others analyze institutional consequences and challenges arising from contemporary biomedicine, such as medical education and recruiting subjects for clinical research. In this introduction, we outline major issues that provide background and foreground for the specific studies that follow, and end with a brief description of the papers. First, we briefly outline the debates around contemporary genetics research on race, ancestry, population, and disease. Second, we describe genomics and disease research projects on the genetics of populations that provide the ground on which the past debates have played, as well as introduce very recent projects that may change the tenor of future debates. We discuss why some scientists argue that their research does not biologize race, while others argue that their findings do demonstrate racial differences. Finally, we relate these complex genomic sciences and their biopolitical debates to relevant STS themes. ..."
"This paper presents an ethnographic case study of the use of race in two interconnected laboratories of medical genetics. Specifically, it examines how researchers committed to reducing health disparities in Latinos with asthma advance hypotheses and structure research to show that relative frequencies of genetic markers characterize commonly understood groupings of race. They do this first by unapologetically advancing the idea that peoples whom they take to be of the `Old World', or `Africans', `Europeans', `East Asians', and `Native Americans', can serve as putatively pure reference populations against which genetic risk for common diseases such as asthma can be calculated for those in the `New World'. Technologically, they deploy a tool called ancestry informative markers (AIMs), which are a collection of genetic sequence variants said to differ in present-day West Africans, East Asians, Europeans, and (ideally Pre-Columbian) Native Americans. I argue that this technology, compelling as it may be to a range of actors who span the political spectrum, is, at base, designed to bring about a correspondence of familiar ideas of race and supposed socially neutral DNA. This correspondence happens, in part, as the scientists in question often bracket the environment while privileging racialized genetic variance as the primary source of health disparities for common disease, in this case between Mexicans and Puerto Ricans with asthma. With their various collaborators, these scientists represent a growing movement within medical genetics to re-consider race and `racial admixture' as biogenetically valid points of departure. Furthermore, many actors at the center of this ethnography focus on race as a function of their personal identity politics as scientists of color. This to say, they are driven not by racist notions of human difference, but by a commitment to reduce health disparities and to include `their' communities in what they describe as the `genetic revolution'. ..."
Garrison, L. P. (2009). "Will Pharmacogenomics Disrupt the U.S. Health Care System? No." Public Health Genomics 12(3).
"There is a widely held view that the scientific breakthroughs represented by pharmacogenomics and other new biomarkers portend a new 'personalized medicine' that will disrupt and revolutionize the U.S. health care system. This paper explores this hypothesis, arguing that while this exciting new science will enhance our understanding of human biology and our ability to develop new measures against disease over the long term, there is little reason to expect it to undermine or fundamentally alter the current U.S. health care system. This system is under attack from other, broader societal forces and will necessarily change; however, the argument made here is that the current system can easily cope with the changes that pharmacogenomics will bring and that it is unlikely to be disruptive to the current system because (1) it will probably unfold gradually and incrementally over a time span of decades and (2) our drug development and health care system -- from development to delivery -- has demonstrated sufficient flexibility to adapt to these kinds of incremental changes. Nonetheless, the sustainability of the projected growth in health spending is in question. Profound reforms are likely, but improved knowledge of our human biology will more likely be a constructive factor as we adapt to these changes. ..."
"This paper uses chronic beryllium disease as a case study to explore some of the challenges for decision-making and some of the problems for obtaining meaningful informed consent when the interpretation of screening results is complicated by their probabilistic nature and is clouded by empirical uncertainty. Although avoidance of further beryllium exposure might seem prudent for any individual whose test results suggest heightened disease risk, we will argue that such a clinical precautionary approach is likely to be a mistake. Instead, advice on the interpretation of screening results must focus not on risk per se, but on avoidable risk, and must be carefully tailored to the individual. These points are of importance for individual decision-making, for informed consent, and for occupational health. ..."
"Genomic research is an expanding and subversive field, leaking into various others, from environmental protection to food production to healthcare delivery, and in doing so, it is reshaping our relationship with them. The international community has issued various declaratory instruments aimed at the human genome and genomic research. These soft law instruments stress the special nature of genomics and our genetic heritage, and attempt to set limits on our activities with respect to same, as informed by the human rights paradigm. This paper examines the primary thrust and, more importantly, the joint value position of the Universal Declaration on the Human Genome and Human Rights and the Universal Declaration on Bioethics and Human Rights, concluding that, though important legal instruments from the human rights paradigm, these instruments, or rather the values contained therein, must find a more influential hard law voice and a broader policy environment. ..."
"Stored tissue samples are an important resource for epidemiological genetic research. Genetic research on biological material from minors can yield valuable information on the development and genesis of early-onset genetic disorders and the early interaction of environmental and genetic factors. The use of such tissue raises some specific ethical and governance questions, which are not completely covered by the discussion on biological materials from adults. We have retrieved 29 guidelines and position papers pertaining to the storage and use of biological tissue samples for genetic research, originating from 27 different organizations. Five documents have an international scope, three have an European scope and 21 have a national scope. We discovered that 11 of these documents did not contain a section on biological materials from minors. The content of the remaining 18 documents was categorized according to four themes: consent, principles of non-therapeutic research on vulnerable populations, ethics committee approval and difference between anonymous and identifiable samples. We found out that these themes are not consistently mentioned by each document, but that documents discussing the same themes were mostly in agreement with their recommendations. However, a systematic reflection on the ethical and policy issues arising from the participation of minors in biobank research is missing. ..."
"A letter to the editor is presented in response to the article "Ethics, Evidence, and Cost in Newborn Screening," by Mary Ann Baily and Thomas H. Murray, in the May-June 2008 issue. ..."
"The objective of this study was to investigate patients' understanding and knowledge of personalized medicine and the process of decision-making regarding pharmacogenomics testing and targeted therapeutics and to better understand how patients value receiving pharmacogenomics-based care. Methods: We conducted 4 focus groups with 8--10 individuals in each group with patients recruited from out-patient clinics at The Methodist Hospital in Houston, Tex., USA. Results: The use of genomic diagnostics and targeted therapeutics to facilitate personalized medicine has considerable support from patients. However, our data revealed that participants were concerned with issues surrounding privacy and confidentiality of genetic test results, particularly with respect to access of information by insurers, with potential costs of testing and issues related to accuracy of test results. Questions regarding willingness to pay revealed that patients would be more willing to pay out-of-pocket if the disease associated with pharmacogenomic testing for treatment was perceived to be high risk (e.g., colorectal cancer) versus a chronic condition that was perceived as lower risk (e.g., high cholesterol). Conclusion: As the personalized medicine approach is increasingly incorporated into health care, understanding patients' needs and their readiness to adopt these novel technologies will become progressively more important for the development of appropriate health policies. ..."
"This paper explores events surrounding the US Food and Drug Administration's formal approval of the heart failure drug BiDil in 2005. BiDil is the first drug ever to be approved with a race-specific indication, in this case to treat heart failure in 'self-identified black patients'. BiDil has been cast by many as a step toward the promised land of individualized pharmacogenomic therapies. This paper argues, however, that when examined in context, the approval of BiDil emerges as a new model of how a pharmaceutical company may exploit race in the marketplace by literally capitalizing on the racial identity of minority populations and leveraging the disproportionate risk of adverse health outcomes they suffer into a cheaper, more efficient way to gain the US Food and Drug Administration's approval for drugs. Discussions of BiDil in both popular media and professional journals have repeatedly elided the difference between pharmacogenomic and race-based medicine. In fact, broad-based true pharmacogenomic therapies remain years-perhaps decades-in the future. The story of BiDil's development elucidates an alternative model to developing tailored therapies that promises to fill in the gap between the promise and reality of pharmacogenomic medicine. It is a model that exploits race to gain regulatory and commercial advantage, while ignoring its power to promote a regeneticization of racial categories in society at large. ..."
"Warfarin is a challenging drug to accurately dose, both initially and for maintenance, because of its narrow therapeutic range, wide interpatient variability, and long list of factors that can influence dosing. Two million people in the United States are initiated on warfarin therapy annually, and this number is steadily increasing because of the increase in number of eligible patients. Recently, warfarin was reported to be the fourth leading cause of adverse events. The U.S. Food and Drug Administration recognizes that the adverse event rate of warfarin can be improved through better initial dosing, because many of the serious adverse events of warfarin occur soon after starting treatment. A substantial number of studies demonstrate that common variants of two genes, VKORC1 and CYP2C9, along with other nongenetic factors, correlate significantly with warfarin dosing. The genotypes of VKORC1 and CYP2C9 alone account for nearly 3 times more of the variability ([~]30%) in warfarin dosing than do age, weight, gender, and other clinical factors combined ([~]12%). Therefore, the purpose of this report is to review the current recommendations for warfarin therapy that involve genetic testing. ..."
Lawson, C. (2008). "Newborn screening in Victoria: a case study of tissue banking regulation." J Law Med 16(3): 523-44.
"The regulation of human tissue collections is increasingly important in maintaining public trust (and legitimacy) for critical practices and resources directed to public health programs and research. This article examines the governance arrangements applying to VCGS Ltd (under its various incarnations as "Genetic Health Services Victoria", "VCGS Pathology", and so on) and the existing collection of population-wide blood samples maintained on newborn screening cards (or Guthrie cards) in Victoria. The analyses reveal a complex web of regulations (and possibly even no regulation) and the limited role of significant statutory schemes that are generally assumed to apply to human tissue collections and the data and information derived from those materials. The article argues that, without a clear regulatory framework (and in particular meaningful consent), there is likely to be a decline in public trust (and legitimacy) with a consequent decreased participation in what is a public health program with immediate and quantifiable benefits and a valuable research resource for the future. ..."
"This paper examines emerging technologies and recent research on population differences in pharmacogenomics and the perspectives of scientists, community advocates, policymakers, and social critics on the use of race as a proxy for genetic variation. The discussion focuses on how recent developments in genomic science impact social understandings of racial difference and the public health goal to eliminate ongoing health disparities among racially identified groups. This paper examines how factors such as governmental policies -- requiring the use of racial and ethnic categories in genetic research and increasing interest in identifying untapped racial market niches by the pharmaceutical and biotechnology industries -- and weak governmental oversight of race-based therapeutics converge to create an 'infrastructure of racialization' that may alter the vision of personalized medicine that has been so highly anticipated. This paper argues that significant public investment in pharmacogenomics requires careful consideration of the emerging discourse that tethers racial justice to notions of racial biology and discusses the social and ethical implications for the pendulum shift towards a geneticization of race in drug development. ..."
"Genetic biobanking studies are becoming increasingly common as researchers recognise the need for large samples to identify the genetic basis of susceptibility to complex disease. In the present review, the authors give a brief overview of some of the issues that should be considered when implementing such a large-scale project, from study design to sample management, data coding and storage to the statistical analysis and engagement with the public. Specific solutions to these issues are presented, as implemented in the Generation Scotland projects, but the general principles outlined are relevant to any biobanking study. ..."
Manolio, T. A. (2009). "Collaborative genome-wide association studies of diverse diseases: programs of the NHGRI office of population genomics." Pharmacogenomics 10(2): 235-241.
"The National Institutes of Health and other federal health agencies are considering establishing a national biobank to study the roles of genes and environment in human health. A preliminary public engagement study was conducted to assess public attitudes and concerns about the proposed biobank, including the expectations for return of individual research results. A total of 141 adults of different ages, incomes, genders, ethnicities, and races participated in 16 focus groups in six locations across the country. Focus group participants voiced a strong desire to be able to access individual research results. Recognizing the wide range of possible research results from a large cohort study, they repeatedly and spontaneously suggested that cohort study participants be given ongoing choices as to which results they received. ..."
Nelson, A. (2008). "Bio science: genetic genealogy testing and the pursuit of African ancestry." Soc Stud Sci. 38(5): 759-83.
"This paper considers the extent to which the geneticization of 'race' and ethnicity is the prevailing outcome of genetic testing for genealogical purposes. The decoding of the human genome precipitated a change of paradigms in genetics research, from an emphasis on genetic similarity to a focus on molecular-level differences among individuals and groups. This shift from lumping to splitting spurred ongoing disagreements among scholars about the significance of 'race' and ethnicity in the genetics era. I characterize these divergent perspectives as 'pragmatism' and 'naturalism'. Drawing upon ethnographic fieldwork and interviews, I argue that neither position fully accounts for how understandings of 'race' and ethnicity are being transformed with genetic genealogy testing. While there is some acquiescence to genetic thinking about ancestry, and by implication, 'race', among African-American and black British consumers of genetic genealogy testing, test-takers also adjudicate between sources of genealogical information and from these construct meaningful biographical narratives. Consumers engage in highly situated 'objective' and 'affiliative' self-fashioning, interpreting genetic test results in the context of their 'genealogical aspirations'. I conclude that issues of site, scale, and subjectification must be attended to if scholars are to understand whether and to what extent social identities are being transformed by recent developments in genetic science. ..."
"Research ethics committees (RECs) are charged with adjudicating the ethical status of research projects, and determining the conditions necessary for such projects to proceed. Both because of their position in the research process and because of the controversial nature of ethical judgements, RECs’ views and decisions need to be accountable. In this paper we use techniques of discourse analysis to show how REC decision letters ‘do’ accountability. Using a sample of 260 letters from three datasets, we identify a range of discursive devices used in letters written by RECs. These include drawing attention to: the process behind the decision, including its collaborative nature; holding the applicants accountable, by implying that any decision made by the REC can be attributed to the performance of the applicants; referring to specialist expertise; and calling upon external authorities. These tactics ‘do’ accountability by showing that routines of ethical assessment have been enacted, by establishing the factuality of claims, and by managing questions of fault and blame attribution. They may, however, also risk undermining legitimacy by failing to acknowledge the inherent contestability of ethical decision making or the limited nature of the cultural authority accorded to RECs, and thus may appear as an illegitimate exercise of power. ..."
"There is increasing recognition in the UK that social science research should generate an evidence base that reflects the ethnic diversity of the population and informs positive developments in public policy and programmes for all. However, describing and understanding ethnic diversity, and associated disadvantage, is far from straightforward. In practice, the ethical and scientific arguments around whether and how to incorporate ethnicity into policy-relevant social research are complex and contentious. In particular, untheorised or insensitive inclusion of data on ethnic 'groups' can have negative consequences. The present investigation begins to explore the extent to which social scientists have access to advice and guidance in this area of research. Specifically, the paper examines how ethnic diversity is explicitly or implicitly considered within the research ethics and scientific standard guidance provided by UK social science Learned Societies to their members. The review found little in the way of explicit attention to ethnic diversity in the guidance documents, but nevertheless identified a number of pertinent themes. The paper compiles and extrapolates these themes to present a tentative set of principles for social scientists to debate and further develop. ..."
"The past few years have seen a growing academic and commercial interest in synthetic genomics and synthetic biology. We refer collectively to these technologies as synthetic life sciences. They involve several distinct engineering strategies drawn from the convergence of molecular genetics, chemistry, nanotechnology and electronic engineering. Synthetic genomics can be defined as the creation of either new or already existing individual genes, chromosomes and even whole genomes through the assembly of DNA molecules. Synthetic biology encompasses the design and construction of new biological parts, devices and systems—as well as the re-design of existing, natural biological systems—for practical purposes (EC, 2005). It often uses the technologies and tools of synthetic genomics, but this is not a prerequisite. ..."
Sillon, G., Y. Joly, et al. (2008). "An ethical and legal overview of pharmacogenomics: perspectives and issues." Med Law 27(4): 843-57.
"Pharmacogenomics, a field of study at the interface of the disciplines of genomics and pharmacology, strives to understand the interaction between genes and the response to therapeutics. Its introduction into clinical research trials and medical practice promises to optimize the effectiveness of medications, reduce the adverse effects experienced by patients, and improve the research and development of new therapeutics. However, while pharmacogenomics promises tremendous health benefits it is still crucial to critically analyze the ethical, social and legal issues surrounding these developments. First, we present the numerous potential benefits ofpharmacogenomics. Then, using a thorough review of relevant jurisprudence, policies and literature, the main ethical, social and legal issues associated with pharmacogenomics will be identified. The likely new responsibilities for health care professionals and pharmaceutical companies as a result of pharmacogenomic development will also be discussed. ..."
"This paper discusses the link between pharmacogenetics and race, and the global justice issues that the introduction of pharmacogenetics in pharmaceutical research and clinical practice will raise. First, it briefly outlines the likely impact of pharmacogenetics on pharmaceutical research and clinical practice within the next five to ten years and then explores the link between pharmacogenetic traits and 'race'. It is shown that any link between apparent race and pharmacogenetics is problematic and that race cannot be used as a proxy for pharmacogenetic knowledge. The final section considers the implications of the development of pharmacogenetics for health care systems in low- and middle-income countries. ..."
Stegmaier, P. (2009). "The rock 'n' roll of knowledge co-production. Science & Society Series on Convergence Research." EMBO Rep 10(2): 114-9.
"Genetic variants of cytochrome P450 2C9 (CYP2C9) and vitamin K epoxide reductase (VKORC1) are known to influence warfarin dose, but the effect of other genes has not been fully elucidated. We genotyped 183 polymorphisms in 29 candidate genes in 1496 Swedish patients starting warfarin treatment, and tested for association with response. Our results strongly support that initiation of warfarin guided by pharmacogenetics would improve clinical outcome. ..."
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