The purpose of this article is to provide a critical examination of two aspects of culture and biomedicine that have helped to shape the meaning and practice of genetic testing for breast cancer. These are: the cultural construction of fear of breast cancer, which has been fuelled in part by the predominance of a ‘risk’ paradigm in contemporary biomedicine. The increasing elaboration and delineation of risk factors and risk numbers are in part intended to help women to contend with their (...) fear of breast cancer. However, because there is no known cure or foolproof prevention for breast cancer, risk designations bring with them recommendations for vigilant surveillance strategies and screening guidelines. We argue that these in effect exacerbate women’s fears of breast cancer itself. The volatile combination of discourses of fear, risk and surveillance have significant ethical and social consequences for women’s lives and well-being. Genetic testing decisions are made within this context; if nurses understand this context they can play an important role in helping women to cope with the anxiety and fear of breast cancer risk. (shrink)

Using data obtained during a retrospective interview study of 30 women who had undergone genetic testing—BRCA1/2mutation searching—this paper describes how women, previously diagnosed with breast/ovarian cancer, perceive their role in generating genetic information about themselves and their families. It observes that when describing their motivations for undergoing DNA testing and their experiences of disclosing genetic information within the family these women provide care based ethical justifications for their actions. Finally, it argues that generating genetic information and disclosing this information to (...) kin raise different types of ethical issues. The implications of these findings for ethical debates about informed choice in the context of genetic testing are discussed. (shrink)

A decade after the completion of the Human Genome Project, the widespread appeal of personalized genomic medicine's vision and potential virtues for health care remains compelling. Advocates argue that our current medical regime “is in crisis as it is expensive, reactive, inefficient, and focused largely on one size fits all treatments for events of late stage disease.” What is revolutionary about this kind of medicine, its advocates maintain, is that it promises to resolve that crisis by simultaneously increasing the ability (...) to be “personalized,” “predictive,” “preventive,” and “participatory.” Some call personalized genomic medicine “P4 Medicine,” inscribing these cardinal virtues into the movement's name. All of these putative virtues have interesting implications for the future of health care. In this essay, we are especially interested in the claims that personalized medicine will lead to a more “participatory” or “patient‐centered” approach to health care, in which patients are “empowered” to take more personal control over their care. The rhetoric of patient empowerment is nothing new in health care, but personalized medicine is an interesting case study because it portrays empowerment as one of its key virtues and as a mechanism for fixing the health care “crisis.”. (shrink)

Whole-genome analysis and whole-exome analysis generate many more clinically actionable findings than traditional targeted genetic analysis. These findings may be relevant to research participants themselves as well as for members of their families. Though researchers performing genomic analyses are likely to find medically significant genetic variations for nearly every research participant, what they will find for any given participant is unpredictable. The ubiquity and diversity of these findings complicate questions about disclosing individual genetic test results. We outline an approach for (...) disclosing a select range of genetic results to the relatives of research participants who have died, developed in response to relatives? requests during a pilot study of large-scale medical genetic sequencing. We also argue that studies that disclose individual research results to participants should, at a minimum, passively disclose individual results to deceased participants? relatives. (shrink)

The notions of “expert” and “expertise” imply that some people have more credibility than others on certain matters. While expert authority is often taken for granted, there are questions as to whether expert power in some cases can be a form of epistemic oppression. Informed by bedside disagreements between family and clinicians as well as feminist discussions of epistemic oppression, this paper argues for a commitment to epistemic humility and the adoption of a two-way collaborative approach between clinicians and families (...) that can help to enhance professionals’ own understanding of their theoretical framework and also promote responsive patient care. (shrink)

Data are lacking with regard to participants' perspectives on return of genetic research results to relatives, including after the participant's death. This paper reports descriptive results from 3,630 survey respondents: 464 participants in a pancreatic cancer biobank, 1,439 family registry participants, and 1,727 healthy individuals. Our findings indicate that most participants would feel obligated to share their results with blood relatives while alive and would want results to be shared with relatives after their death.

No consensus yet exists on how to handle incidental fnd-ings in human subjects research. Yet empirical studies document IFs in a wide range of research studies, where IFs are fndings beyond the aims of the study that are of potential health or reproductive importance to the individual research participant. This paper reports recommendations of a two-year project group funded by NIH to study how to manage IFs in genetic and genomic research, as well as imaging research. We conclude that researchers (...) have an obligation to address the possibility of discovering IFs in their protocol and communications with the IRB, and in their consent forms and communications with research participants. Researchers should establish a pathway for handling IFs and communicate that to the IRB and research participants. We recommend a pathway and categorize IFs into those that must be disclosed to research participants, those that may be disclosed, and those that should not be disclosed. (shrink)

Using data obtained during a retrospective interview study of 30 women who had undergone genetic testing—BRCA1/2 mutation searching—this paper describes how women, previously diagnosed with breast/ovarian cancer, perceive their role in generating genetic information about themselves and their families. It observes that when describing their motivations for undergoing DNA testing and their experiences of disclosing genetic information within the family these women provide care based ethical justifications for their actions. Finally, it argues that generating genetic information and disclosing this information (...) to kin raise different types of ethical issues. The implications of these findings for ethical debates about informed choice in the context of genetic testing are discussed. (shrink)

Genomic research results and incidental findings with health implications for a research participant are of potential interest not only to the participant, but also to the participant's family. Yet investigators lack guidance on return of results to relatives, including after the participant's death. In this paper, a national working group offers consensus analysis and recommendations, including an ethical framework to guide investigators in managing this challenging issue, before and after the participant's death.

The American Journal of Bioethics, Volume 12, Issue 10, Page 10-12, October 2012.

Since its advent, predictive DNA testing has been perceived as a technology that may have considerable impact on the quality of people’s life. The decision whether or not to use this technology is up to the individual client. However, to enable well considered decision making both the negative as well as the positive freedom of the individual should be supported. In this paper, we argue that current professional and public discourse on predictive DNA-testing is lacking when it comes to supporting (...) positive freedom, because it is usually framed in terms of risk and risk management. We show how this ‘risk discourse’ steers thinking on the good life in a particular way. We go on to argue that empirical research into the actual deliberation and decision making processes of individuals and families may be used to enrich the environment of personal deliberation in three ways: (1) it points at a richer set of values that deliberators can take into account, (2) it acknowledges the shared nature of genes, and (3) it shows how one might frame decisions in a non-binary way. We argue that the public sharing and discussing of stories about personal deliberations offers valuable input for others who face similar choices: it fosters their positive freedom to shape their view of the good life in relation to DNA-diagnostics. We conclude by offering some suggestions as to how to realize such public sharing of personal stories. (shrink)

Genetic testing reveals information about a patient's health status and predictions about the patient's future wellness, while also potentially disclosing health information relevant to other family members. With the increasing availability and affordability of genetic testing and the integration of genetics into mainstream medicine, the importance of clarifying the scope of confidentiality and the rules regarding disclosure of genetic findings to genetic relatives is prime. The United Nations International Declaration on Human Genetic Data urges an appreciation for principles of equality, (...) justice, solidarity and responsibility in the context of genetic testing, including a commitment to honoring the privacy and security of the person tested. Considering this global mandate and recent professional statements in the context of a legal amendment to patient privacy policies in Australia, a fresh scrutiny of the legal history of a physician's duty to warn is warranted. This article inquiries whether there may be anything ethically or socially amiss with a potential future recommendation for health professionals or patients to universally disclose particular cancer predisposition genetic diagnosis to genetic family members. While much of the discussion remains applicable to all genetic diagnosis, the article focuses on the practice of disclosure within the context of BRCA1/2 diagnosis. An ‘ethic of care’ interpretation of legal tradition and current practice will serve to reconcile law and medical policy on the issue of physician disclosure of genetic results to family members without patient consent. (shrink)

Since its advent, predictive DNA testing has been perceived as a technology that may have considerable impact on the quality of people’s life. The decision whether or not to use this technology is up to the individual client. However, to enable well considered decision making both the negative as well as the positive freedom of the individual should be supported. In this paper, we argue that current professional and public discourse on predictive DNA-testing is lacking when it comes to supporting (...) positive freedom, because it is usually framed in terms of risk and risk management. We show how this ‘risk discourse’ steers thinking on the good life in a particular way. We go on to argue that empirical research into the actual deliberation and decision making processes of individuals and families may be used to enrich the environment of personal deliberation in three ways: (1) it points at a richer set of values that deliberators can take into account, (2) it acknowledges the shared nature of genes, and (3) it shows how one might frame decisions in a non-binary way. We argue that the public sharing and discussing of stories about personal deliberations offers valuable input for others who face similar choices: it fosters their positive freedom to shape their view of the good life in relation to DNA-diagnostics. We conclude by offering some suggestions as to how to realize such public sharing of personal stories. (shrink)

The informed consent process for genetic testing does not commonly address preferences regarding disclosure of results in the event of the patient's death. Adults being tested for familial colorectal cancer were asked whether they want their exome sequencing results disclosed to another person in the event of their death prior to receiving the results. Of 78 participants, 92% designated an individual and 8% declined to. Further research will help refine practices for informed consent.