Phenotypic and genotypic heterogeneity in gaucher disease: Implications for genetic counseling

Genetic counseling for Gaucher disease is complicated by the vast degree of clinical heterogeneity encountered in the disorder. Recent advances in our understanding of the molecular genetics of Gaucher disease are particularly relevant to genetic counseling. Although the identification of mutations in the glucocerebrosidase gene has enabled genotypic screening of Gaucher patients, the ability to reliably predict patient outcome on the basis of DNA studies is often limited. An appreciation of both the spectrum of clinical manifestations in Gaucher patients and the limitations of the available genotypic information is necessary when counseling patients, families and at-risk individuals.     

Macro- and microlevel factors related to sense of community: The case of temporary neighborhoods in Israel

This study examines macro and micro factors influencing the development of sense of community (Davidson & Cotter, 1980) in two different populations (immigrants and veterans) in new temporary neighborhoods in Israel. At the macrolevel, the major factors examined were population size, population density, number of dwelling units in the site, urbanity of the area, ethnic heterogeneity, and peripheriality of the region. Three kinds of variables were examined on the microlevel: (a) personal attitudes: evaluation of the dwelling unit and satisfaction with public services; (b) social networks; and (c) sociodemographic characteristics. Data were collected from 242 immigrants from the former USSR and from 60 Israeli veterans, residing in 5 different sites. Two different patterns of predictors of sense of community emerged in the two different samples. In the veteran sample, only one macrolevel variable entered the stepwise analysis equation: the number of dwelling units in the site. In the immigrant sample, three significant microlevel factors entered the equation: evaluation of the dwelling unit, external network, and age. The data thus suggest that the major determinant factors underlying sense of community vary for different groups of people. The paper is based on a study initiated and financed by the Ministry of Housing and Construction, the Unit of Social Policy, Israel.     

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.     

Conflict, Identity, and Tolerance: Israel in the Al-Aqsa Intifada

This paper explores the impact of the Al-Aqsa Intifada on tolerance orientations of the Israeli Jewish public. We rely upon five surveys carried out between January 2000 and June 2002 to study in a real-life setting the amount and nature of change in political tolerance due to the conflict and the mechanisms behind it. Building on theory and research on intergroup relations in social psychology and political tolerance in political science, we focus upon threat and ingroup identification as the two primary factors in the social psychological processes resulting from conflict and leading to intolerance. We set the trends and explore mediation and interaction processes in the impact of this round of conflict on political tolerance.     

Swimming against the tide: the changing functions and status of chaplains in the Israel Defense Force

This article describes and analyses the changes that have occurred in the services performed by chaplains in the Israel Defense Force (IDF) – the only military in the world that consists almost entirely of Jews. Essentially, we argue, the shift has been one of focus. For many years, IDF chaplains primarily (albeit never exclusively) concerned themselves with providing religious services to the minority of personnel who observed Orthodox Jewish rituals. ‘Outreach’ programmes, targeted at the secular Jewish majority, were secondary. Recently, however, the IDF rabbinate has undergone a process of ‘role expansion’, emphasising the provision of counselling and guidance to the entire Jewish complement, especially in combat units. In the second part of the article, we analyse the possible reasons for that development: demographic and cultural trends in Israeli society; the prominence of counter-insurgency missions in the IDF’s operational agenda; and the personalities of recent chief chaplains. Finally, we address the possible implications of this shift, asking whether the intra-organisational frictions that it generates, especially with the Education Corps, portends a battle for the soul of the IDF.     

The Ethics of Smart Pills and Self-Acting Devices: Autonomy,Truth-Telling,and Trust at the Dawn of Digital Medicine

Digital medicine is a medical treatment that combines technology with drug delivery. The promises of this combination are continuous and remote monitoring, better disease management, self-tracking, self-management of diseases, and improved treatment adherence. These devices pose ethical challenges for patients, providers, and the social practice of medicine. For patients, having both informed consent and a user agreement raises questions of understanding for autonomy and informed consent, therapeutic misconception, external influences on decision making, confidentiality and privacy, and device dependability. For providers, digital medicine changes the relationship where trust can be verified, clinicians can be monitored, expectations must be managed, and new liability risks may be assumed. Other ethical questions include direct third-party monitoring of health treatment, affordability, and planning for adverse events in the case of device malfunction. This article seeks to lay out the ethical landscape for the implementation of such devices in patient care.     

National Days,National Identity,and Collective Memory: Exploring the Impact of Holocaust Day in Israel

This study uses the case of Holocaust Day in Israel to examine the premise that national days impact national identity and collective memory. Specifically, the study examines whether a very unique type of national day—Holocaust Day—impacts national identification, nationalism, and collective memory in the form of Israeli Jews' perceptions of the “lessons” of the Holocaust. This study uses panel survey design data on national identity and perceptions of the Holocaust's lessons from the same sample of Israeli Jews (N = 665) collected two months prior to Holocaust Day and again during and after Holocaust Day. During and after Holocaust Day, respondents expressed increased levels of nationalism and more perceptions of both particularistic and universalistic Holocaust lessons. Participation in Holocaust Day practices had a stronger relationship with nationalism and national identification during Holocaust Day than before but a weaker relationship with the perception of a universalistic lesson during Holocaust Day. These findings indicate that Holocaust Day impacts national identity and collective memory and highlights the multifaceted nature of the relationships between national identity, collective memory, and national days. The theoretical implication of the findings as well as the case comparability are discussed in light of the findings.     

Individual,family, and societal dimensions of genetic discrimination: A case study analysis

Background. As the development and use of genetic tests have increased, so have concerns regarding the uses of genetic information. Genetic discrimination, the differential treatment of individuals based on real or perceived differences in their genomes, is a recently described form of discrimination. The range and significance of experiences associated with this form of discrimination are not yet well known and are investigated in this study. Methods. Individuals at-risk to develop a genetic condition and parents of children with specific genetic conditions were surveyed by questionnaire for reports of genetic discrimination. A total of 27,790 questionnaires were sent out by mail. Of 917 responses received, 206 were followed up with telephone interviews. The responses were analyzed regarding circumstances of the alleged discrimination, the institutions involved, issues relating to the redress of grievances, and strategies to avoid discrimination. Results. A number of institutions were reported to have engaged in genetic discrimination including health and life insurance companies, health care providers, blood banks, adoption agencies, the military, and schools. The alleged instances of discrimination were against individuals who were asymptomatic and sometimes impacted on other asymptomatic relatives. Few surveyed respondents knew of the existence of institutions such as state insurance commissions or the Medical Information Bureau, Inc., which may play roles in redress of grievances or correction of misinformation. Conclusions. Genetic discrimination is variable in form and cause and can have marked consequences for individuals experiencing discrimination and their relatives. The presence of abnormal genes in all individuals makes each person a potential victim of this type of discrimination. The increasing development and utilization of genetic tests will likely result in increased genetic discrimination in the absence of contravening measures. All authors contributed equally to this work. This work was supported by a grant from the U.S. Department of Energy and funding from the Department of Mental Retardation of the Commonwealth of Massachusetts.     

浙江省三级医院伦理委员会运行现状调查及对策分析

自行设计问卷调查浙江省三级医院伦理委员会建设及运行现状,包括伦理委员会成立时间、设置数量、委员会组成人员、工作人员专职情况及是否有独立办公场地、每年审查项目数量、审查程序、审查时间及通过率,以及工作中存在的困难等。结果显示,浙江省三级医院伦理委员会设置率较高,达96.9%,委员人数设置合理,项目审查及时、高效,工作流程较为规范,但仍存在专职人员偏少,伦理审查工作量大,信息化程度低,资金及硬件设施支持不足等问题。伦理委员会需进一步完善人员选聘、准入机制,明确职责分工,加强审查人员伦理知识以及相关法律法规的培训及考核,建立健全伦理审查信息平台,并提供有利的资金支持和设施保障。

     

医学伦理学与生命伦理学关系类型辨析——基于国内外文献的考察

医学伦理学与生命伦理学的关系在逻辑上有包容论、互异论和交叉论（延续论）三种可能的类型。包容论认为,后者关注范围更广,前者作为一个部分包括在生命伦理学当中。互异论主张,两个概念在跨学科特点方面不同,生命伦理学必须通过跨学科协作,以公共性为导向,而医学伦理学较为单一,以职业性为目标。交叉论（延续论）强调,医学伦理学经历了古代医德学,近现代医学伦理学和生命伦理学。包容论与互异论过于强调二者的相同或区别,割裂了二者内在联系,片面性显而易见。交叉论（延续论）看到了二者内在逻辑,反映了本体属性,是更为合理的评价。     

Ethical issues in genetic counseling: A comparison of M.S. counselor and medical geneticist perspectives

New technologies available in the field of medical genetics have increased the importance of responsible ethical decision-making among genetic counselors. A 1985 national survey of M.D. and Ph.D. genetic counselors assessed ethical attitudes using case scenarios designed to simulate dilemmas faced in genetic counseling (Wertz and Fletcher, 1988b). The current study focuses on attitudes of M.S. genetic counselors using similar scenarios, allowing for effective comparisons. M.S. counselors were more willing than M.D. and Ph.D. counselors to maintain patient confidentiality when screening for Huntington's Disease and occupational diseases, and a greater number would agree to counsel patients pursuing prenatal testing for sex selection. A majority of M.S. counselors would disclose an XY karyotype to a phenotypically female patient. M.S. counselors reasoned that respect for patient autonomy and patient confidentiality justified their decisions in many cases. The importance of these principles is discussed and questioned.     

The bioethics of care: widows, monastics, and a Christian presence in health care.

At the beginning of the twenty-first century, with vocations to the Christian religious orders of the West in marked decline, an authentic Christian presence in health care is threatened. There are no longer large numbers of women willing to offer their life labors bound in vows of poverty, chastity, and obedience, so as to provide a real preferential option for the poor through supporting an authentic Christian mission in health care. At the same time, the frequent earlier death of men leaves a large number of widows, some in need of care and some able to provide care. Drawing on the role of widows sketched in 1 Timothy 2, one can envision Christian widows entering a life of prayer and service in health care settings. As female monastics, such widows could reintroduce a salient Christian presence in health care. How one ties this response to the message of 1 Timothy 2 will depend on one's understanding of the status of Scripture, the significance of tradition, the nature of theological epistemology, the meaning of theology, the nature of the Church, and the ontology of gender. The position taken on these issues will define the character of a Christian bioethics of care.     

Perceptions of Sense of Control,Relative Deprivation,and Expectations of Young Jews and Palestinians in Israel

Abstract

The author focused on the impact of personal deprivation, sense of control, and social context on the future expectations of advantaged and discriminated groups. Analysis of 6,430 Jewish and Palestinian high school students in Israel showed that Palestinian students had lower expectations and stronger feelings of deprivation than Jewish students. Also those who felt deprived had lower expectations regarding the prospects of marriage and the probability of owning a home and a car and of holding a permanent job. However, sense of control influenced these expectations more than did feelings of deprivation. The findings indicated that the processes by which future expectations are formed might be different for Jewish and Palestinian students and that these differences are—at least in part—related to long-term discrimination against Palestinians in Israel.     

Religion in the Context of Culture, Theology, and Global Ethics

The theme of this symposium is distinctive and challenging, because it incorporates the dimensions of interreligious reflection, theology, science, and ethics. This article presents a palette of issues that are both challenge and resource for approaching the theme. Three sets of issues are considered: (1) the role of religion in culture, (2) theological interpretation of nature, disease, and evil, and (3) the fashioning of a global ethic.     

Culture,religion, ethnicity and the meaning of work: Jews and Muslims in the Israeli context

The work values of Arabs in general, and of Muslims in particular, have not yet been studied in Israel. This study examines the meaning of work (MOW) of 1201 Jews and 219 Muslims, who work in the Israeli labour market. The findings reveal significant differences in the MOW dimensions and demonstrate different perceptions and internalisation of work values between the two ethno-religious groups. While the Jews have a higher economic and intrinsic orientation and a higher need for interpersonal relations than the Muslims, the Muslims have higher work centrality. The findings attributed to cultural differences, ethnic conflict, occupational discrimination and high degree of segregation.     

Technology in Medicine: Ontology,Epistemology, Ethics and Social Philosophy at the Crossroads

In reference to the different approaches in philosophy(of medicine) of the nature of (medical) technology,this article introduces the topic of this specialissue of Theoretical Medicine and Bioethics, that is,the way the different forms of medical technologyfunction in everyday medical practice. The authorselaborate on the active role technology plays inshaping our views on disease, illness, and the body,whence in shaping our world.     

Perception of the Minority's Collective Identity and Voting Behavior: The Case of the Palestinians in Israel

Abstract

The author investigated how Palestinian (n = 130) and Jewish (n = 153) Israeli university students perceived the collective identity of the Palestinian minority in Israel. The Palestinian and Jewish respondents perceived the “identity space” of the minority as linear, or bipolar, with 1 pole defined by the national (Palestinian) identity and the other defined by the civic (Israeli) label. The Palestinian respondents defined their collective identity in national (Palestinian, Arab) and integrative (Israeli-Palestinian) terms; the Jewish respondents perceived the minority's identity as integrative (Israeli-Palestinian). Different political outlooks among Palestinian respondents were related to their identification with the civic (Israeli) identity but not to their identification with the national (Palestinian) identity. In contrast, different political outlooks among Jewish respondents were related to their inclusion, or exclusion, of the national (Palestinian) component in their definition of the minority's identity. Implications of the results are discussed in terms of a minority acculturation model (J. Berry, J. Trimble, & E. Olmedo, 1986).     

Nondirectiveness and Its Lay Interpretations: The Effect of Counseling Style, Ethnicity and Culture on Attitudes Towards Genetic Counseling Among Jewish and Bedouin Respondents in Israel

To evaluate the effects of ethnicity, culture, and counseling style on the interpretation of nondirectiveness in genetic counseling, a questionnaire containing premarital and prenatal case vignettes in two versions (pessimistic/optimistic) was administered to 281 Jewish and 133 Bedouin respondents. The first study population was comprised of Jewish students enrolled in a university and a community college in the Negev (southern part of Israel). The second study population was comprised of Muslim-Bedouin college students from the same area. The majority of Jewish respondents interpreted the nondirective message as intended by counselors, while the majority of Bedouin respondents did not. Counseling style was found to have a statistically significant effect on the interpretation of the general role of counseling. Gender and susceptibility were not found to have a significant effect on interpretation. Group differences are analyzed through a cultural lens in which different interpretive norms can generate expectations for either nondirectiveness or directiveness.