The existing EELS literature has usefully identified the scope of ethical issues posed by pharmacogenetic and pharmacogenomic research. The time has come for in-depth examination of particular ethical issues. The involvement of racial and ethnic communities in pharmacogenetic and pharmacogenomic research is contentious precisely because it touches upon the science and politics of studying racial and ethnic difference. To date, the ethics literature has not seriously taken account of the fact that such research impinges upon the interests of communities, and (...) that taking such interests seriously requires that we both protect and empower communities in research. We propose a framework that rests upon the recognition that communities are heterogeneous human associations and differing policies are appropriate for differing communities. Community consent and consultation and community consultation alone are neither appropriate nor required for all pharmacogenetic and pharmacogenomic research. Rather, application of these policy protections must take into account particulars of both planned research and the communities involved. (shrink)

This article surveys recent work on the idea of "citizenship", not as a legal category, but as a normative ideal of membership and participation. We focus on two emerging issues. First, whereas traditional notions of citizenship assume that membership and participation are promoted by the possession of rights, many theorists now emphasize civic responsibilities. Second, whereas traditional theories assume that citizenship provides a common status and identity, some theorists now argue that the distinctive needs and identities of certain groups -such (...) as women, ethnic minorities, the disabled - can only be accommodated through "group-differentiated citizenship". The writings of neo-conservatives, participatory democrats, civic republicans, feminists, civil society theorists, virtue theorists and cultural pluralists are surveyed. (shrink)

Population genomics seeks to better understand genomic diversity and variation at the level of populations. Numerous ethical questions are raised by large studies of human genomic diversity. First, at the level of ethical means, the confidentiality of the genetic data obtained and its handing are challenging. Second, at the more fundamental level of ethical goals or ends, we find questions concerning the meaning and the interpretation of genetic knowledge. What shall we do with this knowledge? Who will decide research orientation (...) and priorities? Ethical questions raised by population genomics imply those of “classical genomics,” but they have the additional ethical complexity of research done on populations. How should we take this particular aspect into account? (shrink)

New developments in genetics could affect a variety of real property rights. Mortgage lenders, mortgage insurers, real estate sellers, senior living centers, retirement communities, or other parties in residential real estate transactions begin requiring predictive genetic information as part of the application process. One likely use would be by retirement communities to learn an individual's genetic risk for Alzheimer's disease. The federal Fair Housing Act prohibits discrimination based on disability, but it is not clear that it would apply to genetic (...) risk assessments. Only California law explicitly applies to this situation and there have been no reported cases. (shrink)

The United States’ ambitious Precision Medicine Initiative proposes to accelerate exponentially the adoption of precision medicine, an approach to health care that tailors disease diagnosis, treatment, and prevention to individual variability in genes, environment, and lifestyle. It aims to achieve this by creating a cohort of volunteers for precision medicine research, accelerating biomedical research innovation, and adopting policies geared toward patients’ empowerment. As strategies to implement the PMI are formulated, critical consideration of the initiative's ethical and sociopolitical dimensions is needed. (...) Drawing on scholarship of nationalism and democracy, we discuss the PMI's construction of what we term “genomic citizenship”; the possible normative obligations arising therefrom; and the ethical, legal, and social challenges that will ensue. Although the PMI is a work in progress, discussion of the existing and emerging issues can facilitate the development of policies, structures, and procedures that can maximize the initiative's ability to produce equitable and socially sensitive outcomes. Our analysis can also be applied to other population-based, precision medicine research programs. (shrink)

US Supreme Court rulings concerning sanctions for juvenile offenders have drawn on the science of brain development and concluded that adolescents are inherently less mature than adults in ways that render them less culpable. This conclusion departs from arguments made in cases involving the mature minor doctrine, in which teenagers have been portrayed as comparable to adults in their capacity to make medical decisions. I attempt to reconcile these apparently incompatible views of adolescents’ decision-making competence. Adolescents are indeed less mature (...) than adults when making decisions under conditions that are characterized by emotional arousal and peer pressure, but adolescents aged 15 and older are just as mature as adults when emotional arousal is minimized and when they are not under the influence of peers, conditions that typically characterize medical decision-making. The mature minor doctrine, as applied to individuals 15 and older, is thus consistent with recent research on adolescent development. (shrink)

Privacy is protected in biobank-based research in the US primarily by the Health Insurance Portability and Accountability Act Privacy Rule and the Federal Policy for Protection of Human Subjects. Neither rule, however, was created to function in the unique context of biobank research, and therefore neither applies to all biobank-based research. Not only is it challenging to determine when the HIPAA Privacy Rule or the Common Rule apply, but these laws apply different standards to protect privacy. In addition, many other (...) federal and state laws may be applicable to a particular biobank, researcher, or project. US law also does not directly address international sharing of data or specimens outside of the EU–US Safe Harbor Agreement, which only applies to receipt of data by certain US entities from EU countries, and is in the process of revision. Although new rules would help clarify privacy protections in biobanking, any implemented changes should be studied to determine the sufficiency of the protections as well as its ability to facilitate or hinder international collaborations. (shrink)

The genetic revolution is well underway, with genetic research and knowledge expanding at an exponential rate. Much of the new genetics research is focused on population groups, and proponents of “population genomics” argue that such studies are necessary since genetic “variation” among human populations holds the most promise for technological innovations that can improve human health and lead to increased understanding of the origin of human populations. Population genomic research thus targets specific groups to discover variation that could lead to (...) knowledge about genetic disorders, possible cures, and the origin and migration patterns of distinctive peoples. Research on genetic differences among groups or populations, however, raises many pressing ethical and legal questions. For example, focus on biological differences of racial and ethnic groups has in the past lead to assumptions about superiority and inferiority between groups, and in practice resulted in stigmatization and discrimination. Consequently, attention on groups should raise legal and moral red flags and compel us to move cautiously in this area. Pragmatically, targeting population groups as the object of study requires the determination of the nature and scope of “population groups” for purposes of genetics research. (shrink)

Unrealistic optimism is a bias that leads people to believe, with respect to a specific event or hazard, that they are more likely to experience positive outcomes and/or less likely to experience negative outcomes than similar others. The phenomenon has been seen in a range of health-related contexts—including when prospective participants are presented with the risks and benefits of participating in a clinical trial. In order to test for the prevalence of unrealistic optimism among participants of early-phase oncology trials, we (...) conducted a survey with patients over 18 years of age who were enrolled in a phase I, phase I/II, or phase II clinical cancer trial in the New York City area between August 2008 and October 2009. Participants in our study were asked to compare their own chances of experiencing a range of risks and benefits related to the trial they were enrolled in with the chances of the other trial participants. We found a significant optimistic bias in their responses. Respondents tended to overestimate the benefits of the trial they were enrolled in and underestimate its risks. In addition, we found no significant relationship between respondents’ understanding of the trial’s purpose and how susceptible they were to unrealistic optimism. Our findings suggest that improving the consent process for oncology studies requires more than addressing deficits in understanding. (shrink)

The fact that the emergence of “technoscience,” resulting from the coalescing of science and technology, may have serious social and cultural impact has been debated in recent years particularly with regard to the field of medicine. The present article is exploring the scope and limits of the “technoscientization” of medicine using the example of rare disease patient associations. It is investigated whether and to what extent these organizations adopt technoscientific illness identities and subscribe to the research priorities and objectives of (...) biomedicine. In addition, it is analyzed whether Paul Rabinow’s highly influential concept of biosociality entails a technoscientific model of identity or, quite to the contrary, offers a framework for contesting biomedical ascriptions of identities. As the article shows, patient associations do refer to technoscientific definitions of diseases yet constantly modify and transform them based on their everyday illness experiences. Likewise, the “biosociality” of rare disease patients emerges from the shared experience of having been neglected by mainstream medical research rather than from supposedly objective biomedical classifications. (shrink)

Since the late 1980s, the human genetics and genomics research community has been promising to usher in a “new paradigm for health care”—one that uses molecular profiling to identify human genetic variants implicated in multifactorial health risks. After the completion of the Human Genome Project in 2003, a wide range of stakeholders became committed to this “paradigm shift,” creating a confluence of investment, advocacy, and enthusiasm that bears all the marks of a “scientific/intellectual social movement” within biomedicine. Proponents of this (...) movement usually offer four ways in which their approach to medical diagnosis and health care improves upon current practices, arguing that it is more “personalized,” “predictive,” “preventive,” and “participatory” than the medical status quo. Initially, it was personalization that seemed to best sum up the movement's appeal. By 2012, however, powerful opinion leaders were abandoning “personalized medicine” in favor of a new label: “precision medicine.” The new label received a decisive seal of approval when, in January 2015, President Obama unveiled plans for a national “precision medicine initiative” to promote the development and use of genomic tools in health care. (shrink)

Genomic research—including whole genome sequencing and whole exome sequencing—has a growing presence in contemporary biomedical investigation. The capacity of sequencing techniques to generate results that go beyond the primary aims of the research—historically referred to as “incidental findings”—has generated considerable discussion as to how this information should be handled—that is, whether incidental results should be returned, and if so, which ones.Federal regulations governing most human subjects research in the United States require the disclosure of “the procedures to be followed” in (...) the research as part of the informed consent process. It seems reasonable to assume—and indeed, many commentators have concluded—that genomic investigators will be expected to inform participants about, among other procedures, the prospect that incidental findings will become available and the mechanisms for dealing with them. Investigators, most of whom will not have dealt with these issues before, will face considerable challenges in framing meaningful disclosures for research participants.To help in this task, we undertook to identify the elements that should be included in the informed consent process related to incidental findings. We did this by surveying a large number of genomic researchers (n = 241) and by conducting in‐depth interviews with a smaller number of researchers (n = 28) and genomic research participants (n = 20). Based on these findings, it seems clear to us that routine approaches to informed consent are not likely to be effective in genomic research in which the prospect of incidental findings exists. Ensuring that participants’ decisions are informed and meaningful will require innovative approaches to dealing with the consent issue. We have identified four prototypical models of a consent process for return of incidental findings. (shrink)

Population genomics seeks to better understand genomic diversity and variation at the level of populations. Numerous ethical questions are raised by large studies of human genomic diversity. First, at the level of ethical means, the confidentiality of the genetic data obtained and its handing are challenging. Second, at the more fundamental level of ethical goals or ends, we find questions concerning the meaning and the interpretation of genetic knowledge. What shall we do with this knowledge? Who will decide research orientation (...) and priorities? Ethical questions raised by population genomics imply those of “classical genomics,” but they have the additional ethical complexity of research done on populations. How should we take this particular aspect into account? (shrink)

Paul Appelbaum and colleagues propose four models of informed consent to research that deploys whole genome sequencing and may generate incidental findings. They base their analysis on empirical data that suggests that research participants want to be offered incidental findings and on a normative consensus that researchers incur a duty to offer them. Their models will contribute to the heated policy debate about return of incidental findings. But in my view, they do not ask the foundational question, In the context (...) of genome sequencing, how much work can consent be asked to do? (shrink)

In this paper, the author questions whether the research ethics guidelines and procedures are robust enough to protect groups when conducting genetics research with socially identifiable populations, particularly with Native American groups. The author argues for a change in the federal guidelines in substance and procedures of conducting genetic research with socially identifiable groups.

Whole genome and exome sequencing techniques raise hope for a new scale of diagnosis, prevention, and prediction of genetic conditions, and improved care for children. For these hopes to materialize, extensive genomic research with children will be needed. However, the use of WGS/WES in pediatric research settings raises considerable challenges for families, researchers, and policy development. In particular, the possibility that these techniques will generate genetic findings unrelated to the primary goal of sequencing has stirred intense debate about whether, which, (...) how, and when these secondary or incidental findings should be returned to parents and minors. The debate is even more pronounced when the subjects are adolescents, for whom decisions about return of SFs may have particular implications. In this paper, we consider the rise of “genomic citizenship” and the main challenges that arise for these stakeholders: adolescents' involvement in decisions relating to return of genomic SFs, the types of SFs that should be offered, privacy protections, and communication between researchers and adolescents about SFs. We argue that adolescents' involvement in genomic SF-related decisions acknowledges their status as valuable stakeholders without detracting from broader familial interests, and promotes more informed genomic citizens. (shrink)