Improving Service Evaluation in Clinical Genetics: Identifying Effects of Genetic Diseases on Individuals and Families

Outcome measurement in clinical genetics is challenging. Outcome attributes used currently have been developed by service providers or adapted from measures used in other areas of healthcare. Many of the ‘patients’ in clinical genetics are healthy but at risk of developing or transmitting a condition. Usually no pharmacological or surgical treatment is offered, although information-giving is an objective of most consultations. We argue that services should be evaluated on the basis of how well they alleviate the effects of disease, from a patient perspective. This paper describes a qualitative study using seven focus groups with health professionals, patients and patient representatives. Social and emotional effects of genetics diseases were identified. Some differences emerged between the effects identified by health professionals and those identified by patients. These findings will be used to inform the evaluation of existing outcome measures and develop robust measures of outcome for clinical genetics services.     

Care and the self: biotechnology,reproduction, and the good life

This paper explores a novel philosophy of ethical care in the face of burgeoning biomedical technologies. I respond to a serious challenge facing traditional bioethics with its roots in analytic philosophy. The hallmarks of these traditional approaches are reason and autonomy, founded on a belief in the liberal humanist subject. In recent years, however, there have been mounting challenges to this view of human subjectivity, emerging from poststructuralist critiques, such as Michel Foucault's, but increasingly also as a result of advances in biotechnology itself. In the face of these developments, I argue that the theoretical relevance and practical application of mainstream bioethics is increasingly under strain. Traditionalists will undoubtedly resist. Together, professional philosopher-bioethicists, public health policymakers, and the global commercial healthcare industry tend to respond conservatively by shoring up the liberal humanist subject as the foundation for medical ethics and consumer decision-making, appealing to the familiar tropes of reason, autonomy, and freedom.     

Must God Be Dead? Reinventing the Sacred

Newton became a death knell for a theistic God and for a non-epiphenominal mind. The culprit is the deterministic causal closure of classical physics. Two major revolutions are taking us beyond this closure. The first is Quantum Mechanics, which is non-deterministic. The second revolution may just be happening. The emergence and evolution of life in our or any biosphere is governed by no law at all. This freedom suggests one sense of God as the natural creativity of the Universe.     

Use of an analog task to study effects of diazepam on taste perception, consummatory behaviors, and risk taking in a social context

In the present study, the authors examined the effects of diazepam (Valium) on various physical, social, and emotional variables within the framework of a task designed to test risk-taking behavior. Participants received either 10 mg of diazepam or a placebo. After the participants tasted strong-flavored liquids, they were able to engage in a risky behavior (i.e., drinking from a confederate's "used" water bottle). Half the participants received additional verbal pressure to drink from the bottle. The authors expected that diazepam would increase health-risk behavior, but the results were inconsistent with that prediction. The second goal of the experiment was to explore diazepam's effects on arousal, mood, social anxiety, and taste. Diazepam users exhibited differences in taste perception and social anxiety, which might in part explain the health-risk results.     

Comparison of polygraph data obtained from individuals involved in mock crimes and actual criminal investigations

In a preliminary attempt to determine the generalizability of data from laboratory mock-crime studies, the authors examined the similarities and differences among the cardiovascular, electrodermal, and respiration responses of deceptive and nondeceptive individuals elicited to crime-relevant and crime-irrelevant questions. Participants in the laboratory group were randomly assigned to nondeceptive (n = 28) or deceptive (n = 27) treatment groups, and a mock-crime scenario was used. The field participants were confirmed nondeceptive (n = 28) or deceptive (n = 39) criminal suspects who underwent polygraph examinations between 1993 and 1997. The results indicated that there were salient differences between field and similarly obtained laboratory polygraph response measures. However, accuracy of laboratory participants' classifications using logistic regression analysis was not significantly different from field participants' classification accuracy.     

Pronouncing novel graphemes: The role of consonantal context

In three experiments, we examined how readers learn and generalize new pronunciations for vowel graphemes. Children ages 6 1/2 to 9 (n = 97) and college students (n = 21) were taught a nonword that included a novel vowel pronunciation in the middle position (e.g., zuop is pronounced /zup/). They were then asked to pronounce other nonwords that contained the same vowel grapheme. Participants were more likely to use the taught pronunciation when the target item and the training item shared a consonant as well as a vowel than when they shared only the vowel. The new pronunciation was not significantly more likely to appear when the target shared the vowel and final consonant (rime) of the training stimulus than when it shared the initial consonant and vowel. We discuss implications for views of reading and its development.     

Physiological evidence that a masked unrelated intervening item disrupts semantic priming: implications for theories of semantic representation and retrieval models of semantic priming

Event-related potentials were recorded in a paradigm where an unrelated word was interposed between two related words. In one condition, the intervening item was masked and in another condition it was not. The N400 component indicated that priming of the related word was disrupted by the intervening item whether it was masked or not. The data are interpreted to be inconsistent with retrieval models of priming.