Search results

Risk notification is part of a focus on preventive medicine that is dominant in contemporary Western biomedicine. Genomics has forecasted great advances in alleviating disease and prolonging human life, moving from a reactive to a preventative practice. However, in doing so, genomics redraws boundaries, potentially classifying all people as possible carriers of malfunctioning genes. This chapter presents a critical review of the practice of ‘risk notification’ as undertaken by familial cancer genetic testing services, focusing on the right to be informed or not to be informed and implications of knowing.

With backgrounds in anthropology, psychology and public health, the authors draw upon literature around risk notification from a range of disciplines.

In the context of familial cancer, clients may be asked to provide contact information for biological family members to inform them of their potential genetic risk. Through these processes a number of tensions and issues may emerge that relate to fundamental bioethical principles. The ability and decision whether to know, or conversely, to not know, is ethically fraught. We consider the roles and rights of family members and clients, as well as the broader goal of population health.

While much attention has been devoted to clients’ right to know in the context of medical research and treatment, relatively little work has examined the right not to know and adverse consequences of knowing. This review addresses concerns which have rarely been critically examined and debated in the context of risk notification of biological family members.

This paper examines the implications of the disability rights critique of prenatal testing on the development of genetic policy and abortion rights. It traces the reappearance of the disabled body in public deliberations over reproductive and genetic politics that use disability to frame arguments about which bodies are worthy of protection, how and why we limit reproductive choices, and what reasons women may use to terminate their pregnancies. The disability critique of prenatal testing and selective abortion finds itself in productive tension with reproductive rights politics, which increasingly features disability in both pro-life and pro-choice messages. The uneasy alliance between disability and pro-life interests has profound implications for both disability legal scholarship and the sociolegal inquiry into the role of rights articulation – and rejection – by social movements.

The progress of genetic medicine has given rise to recent changes in the field of health care, such as expected benefits and potential risks for patients and their relatives. Individual genetic information can unlock many secrets within the genetic family and, sometimes the community to which he or she belongs. Therefore, the traditional duty of confidentiality owed by a health care professional to a patient has been challenged by the more serious discussions based on new genetics. Clinical geneticists providing genetic services must be aware of such complicated situations and whenever possible offer support to the patient (client) and their family members. Excluding eugenics and nonscientific perspectives, the Japanese government renamed and reworked “The Eugenic Protection Act” into the “Maternal Heath Protection Act” in 1996. From 1995 to 2003, the Japanese Society of Human Genetics (JSHG) revised guidelines for genetic testing three times. This process attempted to clarify indications for genetic testing, to focus on protection of individual genetic privacy and to deepen respect for familial relationships and responsibilities. The survey involving 221 JSHG approved clinical geneticist (response rate 54%) revealed that during last 5 years the number trying to do “non-directive” rather than “directive” counseling increased significantly. Although there is still in confusion on certain issues, such as data disclosure to relatives, the global bioethical view of new genetics is gaining Japanese geneticists’ acceptance.

This mixed-methods study reports on an outreach clinics program designed to deliver genetic services to medically underserved communities in Wisconsin.

We show the geographic distribution, funding patterns, and utilization trends for outreach clinics over a 20-year period. Interviews with program planners and outreach clinic staff show how external and internal constraints limited the program’s capacity. We compare clinic operations to the conceptual models guiding program design.

Our findings show that state health officials had to scale back financial support for outreach clinic activities while healthcare providers faced increasing pressure from administrators to reduce investments in charity care. These external and internal constraints led to a decline in the overall number of patients served. We also find that redistribution of clinics to the Milwaukee area increased utilization among Hispanics but not among African-Americans. Our interviews suggest that these patterns may be a function of shortcomings embedded in the planning models.

Planning models have three shortcomings. First, they do not identify the mitigation of health disparities as a specific goal. Second, they fail to acknowledge that partners face escalating profit-seeking mandates that may limit their capacity to provide charity services. Finally, they underemphasize the importance of seeking trusted partners, especially in working with communities that have been historically marginalized.

There has been little discussion about equitably leveraging genetic advances that improve healthcare quality and efficacy. The role of State Health Agencies in mitigating disparities in access to genetic services has been largely ignored in the sociological literature.

This chapter proposes an optimized innovative information technology as a means for achieving operational functionalities of real-time portable electronic health records, system interoperability, longitudinal health-risks research cohort and surveillance of adverse events infrastructure, and clinical, genome regions – disease and interventional prevention infrastructure. In application to the Dod-VA (Department of Defense and Veteran's Administration) health information systems, the proposed modernization can be carried out as an “add-on” expansion (estimated at $288 million in constant dollars) or as a “stand-alone” innovative information technology system (estimated at $489.7 million), and either solution will prototype an infrastructure for nation-wide health information systems interoperability, portable real-time electronic health records (EHRs), adverse events surveillance, and interventional prevention based on targeted single nucleotide polymorphisms (SNPs) discovery.

Focusing on an interview conducted with a Bedouin respondent on the subject on genetic counseling, this paper offers a symbolic interactionist framework for juxtaposing theory and practice, research and implementation, observation as well as intervention. The analysis exposes the interview as an arena for negotiation using constructs such as performance, impression management, micro-politics, weak and strong languages, and cultural difference.

As environmental health scientists increasingly take up genetic/genomic modes of knowledge production and translate their work for applications in biomedicine, risk assessment, and regulation, they “bring the human in” to environmental health issues in novel ways. This paper describes the efforts of environmental health scientists to use molecular technologies to focus their research inside the human body, ascertain human genetic variations in susceptibility to adverse outcomes following environmental exposures, and identify individuals who have sustained DNA damage as a consequence of exposure to chemicals in the environment. In addition to transforming laboratory research, they see in these such practices the opportunity to advance public health, through innovations in biomedical practice and refinement of environmental health risk assessment and regulation. As environmental health scientists produce and translate these new forms of knowledge, they simultaneously assume and instantiate specific notions of the human subject and its agency, possibilities, and responsibilities vis-à-vis health and illness. Because dimensions of human subjectivity remain under-theorized in bioethics, sociological approaches to understanding and situating the human subject offer an important means of elucidating the consequences of genetics/genomics in the environmental health sciences and highlighting the social structures and processes through which they are produced.We are responsible for the world in which we live not because it is an arbitrary construction of our choosing, but because it is sedimented out of particular practices that we have a role in shaping. –Barad, 1998

Measurement is probably the most classical empirical process independent of time period or area of study. The title of this chapter suggests that a discussion of how to measure when approaching the borders of social and natural sciences is what follows, but this is somewhat misleading. Good measurement is independent of how the measures are used. Measures smothered with error, on the contrary, will be bad measures.