Deborah R. Gordon

Integrating common and rare genetic variation in diverse human populations.

Despite great progress in identifying genetic variants that influence human disease, most inherited risk remains unexplained. A more complete understanding requires genome-wide studies that fully examine less common alleles in populations with a wide range of ancestry. To inform the design and interpretation of such studies, we genotyped 1.6 million common single nucleotide polymorphisms (SNPs) in 1,184 reference individuals from 11 global populations, and sequenced ten 100-kilobase regions in 692 of these individuals. This integrated data set of common and rare alleles, called ‘HapMap 3’, includes both SNPs and copy number polymorphisms (CNPs). We characterized population-specific differences among low-frequency variants, measured the improvement in imputation accuracy afforded by the larger reference panel, especially in imputing SNPs with a minor allele frequency of ≤5%, and demonstrated the feasibility of imputing newly discovered CNPs and SNPs. This expanded public resource of genome variants in global populations supports deeper interrogation of genomic variation and its role in human disease, and serves as a step towards a high-resolution map of the landscape of human genetic variation.

Tenacious Assumptions in Western Medicine

While biomedicine has successfully created and hoarded a body of technical knowledge to call its own, its knowledge and practices draw upon a background of tacit understandings that extend far beyond medical boundaries. The biological reductionism by which modern medicine is frequently characterized is more theoretical than actual; in its effects, biomedicine speaks beyond its explicit reductionist reference through the implicit ways it teaches us to interpret ourselves, our world, and the rela-tionships between humans, nature, self, and society. It draws upon and projects cosmology (ways of ordering the world), ontology (assumptions about reality and being), epistemology (assumptions about knowledge and truth), understandings of personhood, society, morality, and religion (what is sacred and profane). Although biomedicine both constitutes and is constituted by society, this interdependency is nevertheless denied by biomedical theory and ideology which claim neutrality and universality.

Clinical Science and Clinical Expertise: Changing Boundaries between Art and Science in Medicine

While science may be considered a symbol of legitimacy and source of power for the medical profession, physicians’ clinical expertise may be regarded as their personal power and private magic. For years this expertise has been left relatively unchallenged: science moved more and more into the “lab” (laboratory) to develop basic science theory, leaving patient care decisions in the clinic to physician judgement (Starr 1982; Feinstein 1983a).

Integrating qualitative research into occupational health: a case study among hospital workers.

Objective: We sought to better use qualitative approaches in occupational health research and integrate them with quantitative methods. Methods: We systematically reviewed, selected, and adapted qualitative research methods as part of a multisite study of the predictors and outcomes of work-related musculoskeletal disorders among hospital workers in two large urban tertiary hospitals. Results: The methods selected included participant observation; informal, open-ended, and semistructured interviews with individuals or small groups; and archival study. The nature of the work and social life of the hospitals and the foci of the study all favored using more participant observation methods in the case study than initially anticipated. Conclusions: Exploiting the full methodological spectrum of qualitative methods in occupational health is increasingly relevant. Although labor-intensive, these approaches may increase the yield of established quantitative approaches otherwise used in isolation.

Culture, Cancer, and Communication in Italy

It is still the dominant practice in Italy, but one definitely changing, not to inform cancer patients of their diagnosis, particularly if the outcome is uncertain. A medical practice, such as telling or not telling a diagnosis of cancer, is infused with social and cultural understandings and implications. It is not just a neutral technique nor does it belong exclusively to the realm of medicine. This presents an interesting situation, for increasingly practices current in North America find their way to Italy. Informing the patient of his or her diagnosis is exactly one of them. Bioethics is another. While informing already takes place more frequently in major cancer research and treatment centers in Italy (GIVIO 1986), the ideology of telling is spreading [1] and one can expect that normative practice will eventually follow.

Models of clinical expertise in American nursing practice

This paper analyzes nursing job descriptions that compose a career ladder. These job descriptions, an ethnomodel of expertise, are compared to the Dreyfus model that describes five stages of skill acquisition. While the Dreyfus model posits the replacement of analytic reasoning with intuitive response as the characteristic of expert practice, the ideal posited in the nursing model places theoretical knowledge at the apex. Nursing job descriptions can best be understood in the context of this professions search for greater power and legitimacy.

Effects of alcohol congeners and acetaldehyde on aggressive behavior of the convict cichlid

Ethanol and three beverage alcohols were examined for their effects on the aggressive responses of the convict cichlid. At an ethanol concentration that gave negligible effects on the basal level of these responses, rum was observed to depress aggression. As its concentration of acetaldehyde was significantly higher than that of the other beverage alcohols, we assessed the effects of acetyldehyde on the aggressive responses, as well as the locomotor activity of the fish. At 4mg/l, acetaldehyde completely inhibited aggressive responses, without affecting locomotor activity. It is likely, however, that acetaldehyde does not explain the entire inhibitory effect of rum on the aggressive responses of the cichlid.

Effects of forebrain ablation on taste aversion in goldfish (Carassius auratus).

Abstract To determine the ability of normal, sham-operated, and telencephalon-ablated goldfish to acquire a learned taste aversion to live brine shimp or live tubifex worms, lithium chloride was injected to induce toxicosis and sodium chloride was injected as a sham control. Groups were compared on intake, number expelled, and consumption rates of target prey. Results showed significant inability of the ablated subjects in acquisition of a taste aversion. Predator behavior was found unimpaired.

The Evolution of Case Management for Service Members Injured in Iraq and Afghanistan

In this article we describe the nursing care needs of wounded service members (WSMs) from the wars in Iraq and Afghanistan and the evolving role of the nurse case manager (CM). New types of injuries, in-field treatment, immediate transport to multiple care centers, and new technologies have created a new patient population of WSMs that requires new types of nursing care and knowledge. We interviewed 235 nurses, including CMs from nine military treatment facilities (MTFs) and the Veterans Administration (VA), on actual patient care experiences and new knowledge development, and 67 WSMs about their experiences of care. New military and VA nurse case management roles are essential for the effective functioning of the evolving, highly specialized, and transport-based health care system. Working effectively with WSMs required that the CM role be expanded beyond health care management to include family support, re-entry, and life coaching for the extremely altered life circumstances of WSMs.

Beyond Pathologizing Harm: Understanding PTSD in the Context of War Experience

An alternative to objectifying approaches to understanding Post-traumatic Stress Disorder (PTSD) grounded in hermeneutic phenomenology is presented. Nurses who provided care for soldiers injured in the Iraq and Afghanistan wars, and sixty-seven wounded male servicemen in the rehabilitation phase of their recovery were interviewed. PTSD is the one major psychiatric diagnosis where social causation is established, yet PTSD is predominantly viewed in terms of the usual neuro-physiological causal models with traumatic social events viewed as pathogens with dose related effects. Biologic models of causation are applied reductively to both predisposing personal vulnerabilities and strengths that prevent PTSD, such as resiliency. However, framing PTSD as an objective disease state separates it from narrative historical details of the trauma. Personal stories and cultural meanings of the traumatic events are seen as epiphenomenal, unrelated to the understanding of, and ultimately, the therapeutic treatment of PTSD. Most wounded service members described classic symptoms of PTSD: flashbacks, insomnia, anxiety etc. All experienced disturbance in their sense of time and place. Rather than see the occurrence of these symptoms as decontextualized mechanistic reverberations of war, we consider how these symptoms meaningfully reflect actual war experiences and sense of displacement experienced by service members.