FOREWORD:
Recommendations concerning the use of a predictive test for the detection of Huntington's Disease (HD) were drawn up by a committee consisting of representatives of the INTERNATIONAL HUNTINGTON ASSOCIATION (IHA) and the WORLD FEDERATION OF NEUROLOGY (WFN) RESEARCH GROUP ON HUNTINGTON'S CHOREA. The establishment of a committee with the specific task of preparing such guidelines was agreed upon at the WFN and IHA conferences in Lille, France, in September 1985. The first recommendations were adopted by each of the organisations at their respective meetings in Vancouver,BC, Canada, June 30 to July 3, 1989, and published in theJournalof the Neurological Sciences (1989;94:327-332) and the Journal of Medical Genetics (1990;27:34-380). Revision of these Guidelines was necessary in view of the report, published in March 1993, of the detection of the gene defect. These revised Guidelines were published in the Journal of Medical Genetics (1994;31:555-559) and in Neurology (1994;44:1533-1536).

The aim of this (draft) paper is to provide recommendations for diagnosing HD and genetic testing. The paper is meant for neurologists, psychiatrists, clinical geneticists and all other scientists and physicians who are involved with predictive and diagnostic testing in Huntington’s Disease.

The paper is based on experiences of lay organizations with physicians, psychologists, neurologists and other professionals who are responsible for medical care in HD patients. The main reason is to give a number of suggestions how HD patients and their relatives can be given optimal support following the diagnosis Huntington’s Disease. These suggestions are to be summarized in guidelines for genetic testing in diagnosing HD (“diagnostic recommendations”) as an addition to the guidelines for predictive testing. We trust that consensus can be reached between scientists (WFN) and lay organizations (IHA) on this paper.