Pharmacogenetics: ethical issues and policy options

Pharmacogenetics offers the prospect of an era of safer and more effective drugs, as well as more individualized use of drug therapies. Before the benefits of pharmacogenetics can be realized, the ethical issues that arise in research and clinical application of pharmacogenetic technologies must be addressed. The ethical issues raised by pharmacogenetics can be addressed under six headings: (1) regulatory oversight, (2) confidentiality and privacy, (3) informed consent, (4) availability of drugs, (5) access, and (6) clinicians' changing responsibilities in the era of pharmacogenetic medicine. We analyze each of these categories of ethical issues and provide policy approaches for addressing them.     

Fabry disease in genetic counseling practice: recommendations of the National Society of Genetic Counselors

The objective of this document is to provide health care professionals with recommendations for genetic counseling and testing of individuals with a suspected or confirmed diagnosis of Fabry disease, with a family history of Fabry disease, and those identified as female carriers of Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as an individual with Fabry disease who is a founder of a Fabry disease patient advocacy group in the United States. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing and interpretation of results, psychosocial considerations, and references for professional and patient resources. These recommendations should not be construed as dictating an exclusive course of management, nor does use of such recommendations guarantee a particular outcome. The professional judgment of a healthcare provider, familiar with the facts and circumstances of a specific case, will always supersede these recommendations.     

A conceptual model of cultural predictors of anxiety among Japanese American and part-Japanese American adolescents

A model integrating Japanese ethnicity, cultural identity, and anxiety was developed and assessed in Japanese American and part-Japanese American high school seniors (N = 141). Using measures from the Hawaiian High Schools Health Survey, the model incorporated the State-Trait Anxiety Inventory, the Major Life Events Scale, and the Japanese Culture Scale (JCS). Japanese American adolescents scored higher on the JCS and reported fewer anxiety symptoms than part-Japanese American adolescents. Predictors for anxiety were being Japanese American versus part-Japanese American, income, and culturally intensified events. A significant interaction of behavior by self-identification was obtained. The model had good overall fit, suggesting that cultural identity formation may contribute to anxiety experienced particularly by adolescents of mixed heritage.     

The continuing need for disinterested research

For scientific knowledge to be trustworthy, it needs to be dissociated from material interests. Disinterested research also performs other important non-instrumental roles. In particular, academic science has traditionally provided society with reliable, imaginative public knowledge and independent, self-critical expertise. But this type of science is not compatible with the practice of instrumental research, which is typically proprietary, prosaic, pragmatic and partisan. With ever-increasing dependence on commercial or state funding, all modes of knowledge production are merging into a new, ‘post-academic’ research culture which is dominated by utilitarian goals. Growing concern about conflicts of interest is thus a symptom of deep-seated malaise in science and medicine. An expanded version of this paper was presented at an International Conference on “Conflict of Interest and its Significance in Science and Medicine” held in Warsaw, Poland on 5–6 April, 2002.     

Win-shift and win-stay learning in the short-beaked echidna (<Emphasis Type="Italic">Tachyglossus aculeatus</Emphasis>)

Numerous previous investigators have explained species differences in spatial memory performance in terms of differences in foraging ecology. In three experiments we attempted to extend these findings by examining the extent to which the spatial memory performance of echidnas (or "spiny anteaters") can be understood in terms of the spatio-temporal distribution of their prey (ants and termites). This is a species and a foraging situation that have not been examined in this way before. Echidnas were better able to learn to avoid a previously rewarding location (to "win-shift") than to learn to return to a previously rewarding location (to "win-stay"), at short retention intervals, but were unable to learn either of these strategies at retention intervals of 90 min. The short retention interval results support the ecological hypothesis, but the long retention interval results do not. Electronic Publication     

Effects of normal aging and Alzheimer's disease on emotional memory

Recall is typically better for emotional than for neutral stimuli. This enhancement is believed to rely on limbic regions. Memory is also better for neutral stimuli embedded in an emotional context. The neural substrate supporting this effect has not been thoroughly investigated but may include frontal lobe, as well as limbic circuits. Alzheimer's disease (AD) results in atrophy of limbic structures, whereas normal aging relatively spares limbic regions but affects prefrontal areas. The authors hypothesized that AD would reduce all enhancement effects, whereas aging would disproportionately affect enhancement based on emotional context. The results confirmed the authors' hypotheses: Young and older adults, but not AD patients, showed better memory for emotional versus neutral pictures and words. Older adults and AD patients showed no benefit from emotional context, whereas young adults remembered more items embedded in an emotional versus neutral context.     

Facial affect recognition in criminal psychopaths

Prior studies provide consistent evidence of deficits for psychopaths in processing verbal emotional material but are inconsistent regarding nonverbal emotional material. To examine whether psychopaths exhibit general versus specific deficits in nonverbal emotional processing, 34 psychopaths and 33 nonpsychopaths identified with Hare's (R. D. Hare, 1991) Psychopathy Checklist--Revised were asked to complete a facial affect recognition test. Slides of prototypic facial expressions were presented. Three hypotheses regarding hemispheric lateralization anomalies in psychopaths were also tested (right-hemisphere dysfunction, reduced lateralization, and reversed lateralization). Psychopaths were less accurate than nonpsychopaths at classifying facial affect under conditions promoting reliance on right-hemisphere resources and displayed a specific deficit in classifying disgust. These findings demonstrate that psychopaths exhibit specific deficits in nonverbal emotional processing.     

Sets and Classes as Many

In this paper the view is developed that classes should not be understood as individuals, but, rather, as classes as many of individuals. To correlate classes with individuals labelling and colabelling functions are introduced and sets identified with a certain subdomain of the classes on which the labelling and colabelling functions are mutually inverse. A minimal axiomatization of the resulting system is formulated and some of its extensions are related to various systems of set theory, including nonwellfounded set theories.