title: Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France.
abstract: Huntington's disease was the first adult onset neurological disease for which presymptomatic genetic testing became possible. It served as a model for the approach which constituted a radical change in medical practice and provided an important framework for multi-step, multidisciplinary, counselling for at risk persons. We will review the historical context of guidelines and good clinical practices, the experiences of our team which covers more than 20 years of presymptomatic testing for Huntington's disease in France, and explore the impact of the new French legislation for the future of presymptomatic testing of diseases for which neither preventive measures nor curative treatments are yet available.
authors.affiliation: EA1610, département de recherche en éthique, centre scientifique d'Orsay, université Paris Sud, bâtiment 407, 91405 Orsay cedex, France.
authors.forename: S
authors.initials: S
authors.lastname: Clément
authors.affiliation: EA 4056, laboratoire de psychologie clinique et psychopathologie, institut de psychologie, Sorbonne Paris Cité, université Paris Descartes, 71, avenue Édouard-Vaillant, 92774 Boulogne-Billancourt cedex, France; Département de génétique et cytogénétique, groupe hospitalier de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Institut de myologie, groupe hospitalier de la Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France.
authors.forename: M
authors.initials: M
authors.lastname: Gargiulo
authors.affiliation: Département de génétique et cytogénétique, groupe hospitalier de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France.
authors.forename: J
authors.initials: J
authors.lastname: Feingold
authors.affiliation: Département de génétique et cytogénétique, groupe hospitalier de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Institut de myologie, groupe hospitalier de la Pitié-Salpêtrière, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France; Inserm U1127, CNRS UMR7225, UMR_S975, institut du cerveau et de la moelle épinière, hôpital de la Salpêtrière, UPMC - Paris VI, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France. Electronic address: alexandra.durr@upmc.fr.
authors.forename: A
authors.initials: A
authors.lastname: Durr
mesh_terms: D042241:Early Diagnosis; D005602:France; D005820:Genetic Testing; D017408:Guidelines as Topic; D006801:Humans; D006816:Huntington Disease / Q000175:diagnosis* / Q000235:genetics*; D007883:Legislation, Medical
keywords: Family medical information; French legal obligations; Huntington's disease; Information de la parentèle; International recommendations; Maladie de Huntington; Obligations légales en France; Presymptomatic testing; Recommandations internationales; Test présymptomatique