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.