Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France

S Clément; M Gargiulo; J Feingold; A Durr

doi:10.1016/j.neurol.2015.02.016

Guidelines for presymptomatic testing for Huntington's disease: past, present and future in France

Rev Neurol (Paris). 2015 Jun-Jul;171(6-7):572-80. doi: 10.1016/j.neurol.2015.02.016. Epub 2015 May 19.

Authors

S Clément¹, M Gargiulo², J Feingold³, A Durr⁴

Affiliations

¹ EA1610, département de recherche en éthique, centre scientifique d'Orsay, université Paris Sud, bâtiment 407, 91405 Orsay cedex, France.
² 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.
³ Département de génétique et cytogénétique, groupe hospitalier de la Pitié-Salpêtrière, AP-HP, 47-83, boulevard de l'Hôpital, 75651 Paris cedex 13, France.
⁴ 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.

PMID: 26002494
DOI: 10.1016/j.neurol.2015.02.016

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.

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.

Publication types

Review

MeSH terms

Early Diagnosis*
France
Genetic Testing*
Guidelines as Topic*
Humans
Huntington Disease / diagnosis*
Huntington Disease / genetics*
Legislation, Medical