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.     

From case management to prevention of scientific dishonesty in Denmark

In 1992, The Danish Medical Research Council established a national committee on scientific dishonesty with the twofold task of handling cases of scientific misconduct and taking preventive initiatives. Scientific dishonesty was proven in only five cases, but in another nine cases lesser degrees of deviations from good scientific practice were found. The experiences from a total of 24 treated cases indicated that three key areas were at the basis of most of the accusations and the deviations from good practice: uncertainty about 1) authorship, about 2) rights and duties to use scientific data and about 3) agreements at the initiation of joint studies. As a consequence guidelines on good practice have been issued on these key subjects. An earlier version of this paper was presented at a symposium, Scientific Misconduct. An International Perspective, organised by The Medical University of Warsaw, 16 November, 1998.     

Evidence-Based Psychotherapy and Counselling in the UK: Critique and Alternatives

Developments in empirically supported therapy or evidence-based practice in the UK are outlined and critically examined. Perceived advantages and disadvantages are set out, with a commentary. It is asserted that the evidence-based ethos is seriously flawed and that psychotherapy is essentially a faith-based craft, not a thoroughly researchable scientific enterprise. Some alternatives to evidence-based practice are briefly outlined, before turning to an exploration of the wider context of anthropathology in which therapy takes place and against which it must acknowledge its limitations. Broad-brush conclusions are drawn.     

“Mind the gaps”: An empirical approach to engineering ethics, 1997–2001

A survey on ethical issues in engineering was administered over a five-year period to Stanford engineering students and practicing engineers. Analysis of its results strongly suggests that important disconnects exist between the education of engineering students regarding ethical issues in engineering on the one hand, and the realities of contemporary engineering practice on the other. Two noteworthy consequences of these gaps are that the views of engineering students differ substantially over what makes an issue an ethical issue, while practicing engineers exhibit significant disagreement over what is the most important non-technical aspect of being a responsible engineering professional in contemporary society. These divergences impede the recognition of ethical issues and of specific moral responsibilities of engineers in concrete professional practice. It is argued that the use of suitably refined and probing surveys of engineering students and practicing engineers about ethical issues in engineering is an important although neglected empirical approach to the study of engineering ethics. Such an approach can enhance the prevailing case study method and combat over-tidy theoretical-analytical approaches to the subject. When a train arrives at a station in the London Underground, a public announcement cautions passengers to “mind the gap”, i.e. heed the space between the station platform and the carriage while entering or exiting. An early draft of this paper was presented at the International Conference on Ethics in Engineering and Computer Science, Case Western Reserve University, Cleveland, Ohio, March 21–23, 1999.     

Developing Standard Recommendations (Guidelines) for Genetic Counseling Practice: A Process of the National Society of Genetic Counselors

The National Society of Genetic Counselors (NSGC) supports the development of practice recommendations (guidelines) in the field of genetic counseling. This paper reviews the basic components of NSGC genetic counseling practice recommendations as well as the process for formal adoption of such documents, as approved by the Board of Directors of the NSGC.