ETHICAL AND SOCIAL-ISSUES IN PRESYMPTOMATIC TESTING FOR HUNTINGTONS-DISEASE - A EUROPEAN-COMMUNITY COLLABORATIVE STUDY

An analysis of social and ethical aspects of presymptomatic testing fo r Huntington's disease has been carried out, based on data on linked D NA markers, from four major testing centres in different European Comm unity countries (Belgium, Italy, Netherlands, and United Kingdom). Inf ormation was available on 603 applicants, with 213 final results given , of which 32% gave an increased risk. A series of specific issues and problems were documented systematically for all applicants, results b eing given on frequency of occurrence and illustrated by individual ca se histories. The principal issues could be grouped as problems of ina ppropriate referral, problems involving relatives, and problems relati ng to disclosure of results. At least one important problem was encoun tered in 46% of applicants, emphasising the importance of expert couns elling, preparation, and support of applicants, and of close liaison b etween clinical, counselling, and laboratory staff. The extensive and detailed information available for Huntington's disease from this and other studies will be of considerable value in relation to genetic tes ting for other late onset genetic disorders and will be even more rele vant to Huntington's disease now that specific mutation analysis is po ssible for this disorder.