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.     

The Late Life Reconstruction of Selfhood Analyzed in Peter Hall's Film She's Been Away

The film She's Been Away tells the story of an old woman who had been locked in a mental asylum while a teenager, for willfully violating repressive sexual codes. Sixty years later her ward is closed and she moves in with her nephew and his wife. Faced with what appears to be a hopeless situation, she manages to forge a sense of a meaningful closure to a misspent life. Through narrative, story structure, and characterization the film throws into focus coping mechanisms and ego strategies deployed by a triple disadvantaged person (woman, old, and mad) in her ascent to a reconstructed selfhood. As the protagonist ties both ends of her life, and faces the abyss in between she makes genuine adaptive use of so-called regressive, late-life development assets (available to a lesser degree to elderly people in normal life circumstances), primarily the abolition of linear time. Through this abolition she makes reminiscing an actual reality while still maintaining a functional separation between the real and the remembered. Her portrayal is a valuable document for gerontologists as it explores, through artistic imagination and intuition, the workings of an aging mind in search for a meaningful sense of closure.     

Individual and institutional conflict of interest: policy review by research universities in the United States

This paper is a discussion of efforts to manage real and potential conflicts of interest in university research in the United States. The focus is on the report by an Association of American Universities (AAU) task force that addresses both individual and institutional conflict of interest issues. An earlier 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.     

Beyond conflict of interest: the responsible conduct of research

This paper reports data and scholarly opinion that support the perception of systemic flaws in the management of scientific professions and the research enterprise; explores the responsibility that professional status places on the scientific professions, and elaborates the concept of the responsible conduct of research (RCR). Data are presented on research misconduct, availability of research guidelines, and perceived research quality. An earlier 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, 5–6 April, 2002. The opinions expressed herein are those of the author and do not necessarily represent the views of the Office of Research Integrity, the U.S. Department of Health and Human Services, or any other federal agency.     

Conflict of interest in medicine in Lithuania: legal and ethical aspects

The current legal framework within the Lithuanian health system is described including a review of the physician’s autonomy, rights and duties, and patients’ rights including the right to reimbursement. The role of ethical codes and the law are discussed. An earlier 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.     

Causal Responsibility and Rationing in Medicine

The article addresses the issue of rationing health care services, a topic currently being hotly debated in many countries. The author argues that the aspect of causal responsibility ought to play a decisive role in the allocation of limited medical resources. Starting out from Ronald Dworkin's distinction between option luck and brute luck, the appropriate and meaningful uses of the term causal responsibility are clarified first. A discussion of the conditions which might justify giving lower priority to patients whose illnesses are the result of unhealthy behavior, like e.g. alcohol abuse, follows. Causal responsibility is then viewed in the context of private health insurance and the club model of organ donation. It is argued that individuals themselves are basically responsible for their decisions regarding insurance coverage and membership in organ donors' clubs. Causal responsibility is shown to be a more suitable criterion for rationing scarce medical resources than other criteria which might alternatively be considered, such as patients' age.     

The relevance of Rawls' principle of justice for research on cognitively impaired patients

An ethical conflict arises when we must performresearch in the interest of future patients,but that this may occasionally injure theinterests of today's patients.In the case of cognitively impaired persons, thequestion arises whether it is compatible withhumane healthcare not only to treat, but alsoto use these patients for research purposes.Some bioethicists and theologians haveformulated a general duty of solidarity, alsopertaining to cognitively impaired persons, as ajustification for research on these persons. Ifone examines this thesis from the theory ofjustice according to John Rawls, it is revealedthat such a duty of solidarity cannotnecessarily be extrapolated from Rawls'conception of justice. This is at least true ofRawls' difference principle, because accordingto the difference principle only those measuresare justifiable which serve the interest of therespective least well off. Those measures whichwould engender additional injury for the leastwell off could not be balanced by any utilityaccording to Rawls.However, John Rawls' difference principleis subordinate to the first principle,which is that each person has an equalright to the most extensive basic libertycompatible with the same liberty for others.These primary goods are determined by thefreedom and integrity of the person.This integrity of decisionally impaired personswould be in danger if one would abstain fromresearch and thus forego the increase inknowledge related to their disease. Thus onecould conclude, at least from Rawls' firstprinciple, that society must take on a duty toguarantee the degrees of freedom forcognitively impaired persons and thus alsosupport the efforts for their healing.     

Pessimism

The problem of pessimism is the secular analogue to the evidential problem of evil facing traditional theism. The traditional theist must argue two things: that the evidence shows that this is on balance a good world and that it is the best possible world. Though the secular optimist who advocates any form of secular moral theory need not argue that the current and future world will likely be the best possible world, she nonetheless must argue that were there a clean solution to the problem of current and future suffering in which all sentient life could be instantly and painlessly eliminated, we would have reasons not to employ the clean solution because the future promises to bring on balance a good world in which the evil of human and animal suffering is outweighed by whatever is good in the world. Pessimism is the view that the evidence argues against secular optimism. It is argued here that it is anything but clear that secular optimism is warranted when viewed from an impersonal point of view. The problem is then evaluated from the personal point of view in which a form of personal optimism is defended even in the face of impersonal pessimism.     

Pace of Life and Enjoyment of Life

The paper addresses the paradox that people in modern societies believe themselves to be very happy and satisfied with their lives while simultaneously are subjected to increasing time pressure and pace of life. It starts with presenting evidence for time pressure covering objective and subjective indicators. Evidence for Germany is given by comparing time-budgets in 1991/92 and in 1999. Time use among full time employed in Germany and other EU-societies in the 1990s is compared to the US and Japan by means of diary-data. As regards work life, overwork and the gap between actual and preferred working hours are examined. Survey-results on the relationship between work load, time pressure, stress and health are reported.Most of these data support the conclusion that time pressure has emerged as a major social problem. Hence citizens are beginning to consider time prosperity as a dimension of their well-being beyond their consumer wealth.However, this growing pace of life does not reduce life satisfaction and happiness. Here a paradox evolves as increasing time pressure goes hand in hand with increased subjective well-being (SWB) at country level in cross-cultural comparison as well as at individual level.In the third section some answers to this paradox are explored: A first answer is offered through the modernization theory: life satisfaction and QOL are proliferating along with economic growth and living standards. This process at the same time accelerates social life. Hence, the negative effects of time pressure are counterbalanced by various yields of the modernization process resulting in a pattern of "heavy-going" satisfaction.A second explanation is the psychological approach: time pressure fulfils positive functions for mobilizing individual resources. A variation of this argument is that the multiple-choice-society offers a wide variety of attractive options resulting in people engaging in too many activities. Here, the enjoyment of life is equated with taking advantage of every opportunity.However, this paper prefers a third approach based on Simmel's explanation of the ambivalent consequences of modernity. Even where the majority of citizens report high levels of happiness and life satisfaction – which can be explained through "arousal" or "eu-stress" – the need to ease the time-burden of disadvantaged groups and to down-speed work and social life in general is essential.