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What is the role of genetic testing in movement disorders practice?

Susanne A. Schneider*, Christine Klein

*Korrespondierende/r Autor/-in für diese Arbeit

Abstract

Genetic testing holds many promises in movement disorders, but also pitfalls that require careful consideration for meaningful results. These include the primary indication for testing in the first place, concerns regarding the implications of symptomatic, presymptomatic, and susceptibility testing, the mutation frequency in the gene of interest, the general lack of neuroprotective treatment options for neurodegenerative movement disorders, the prognosis of the condition diagnosed, and patient confidentiality concerns. Furthermore, new technical achievements and the available technical expertise, feasibility of specific gene testing, and its coverage through a health insurance carrier should be considered. Guidelines for testing have been established by some disease societies to advise clinicians and in parallel legal regulations are being adjusted at a national and international level. We review these and other critical points and recent developments regarding genetic testing in the field of movement disorders.

OriginalspracheEnglisch
ZeitschriftCurrent Neurology and Neuroscience Reports
Jahrgang11
Ausgabenummer4
Seiten (von - bis)351-361
Seitenumfang11
ISSN1528-4042
DOIs
PublikationsstatusVeröffentlicht - 08.2011

Fördermittel

Acknowledgments S.A. Schneider is supported by the Deutsche Forschungsgemeinschaft and intramural funding from the University of Luebeck; C. Klein is supported by the Hermann and Lilly Schilling Foundation and by the Volkswagen Foundation. We thank Professor Dr. Dr. h.c. Uwe H. Schneider, Professor of law, for useful discussion regarding the legal aspects of genetic testing.

UN SDGs

Dieser Output leistet einen Beitrag zu folgendem(n) Ziel(en) für nachhaltige Entwicklung

  1. SDG 3 – Gesundheit und Wohlergehen
    SDG 3 – Gesundheit und Wohlergehen
  2. SDG 10 – Weniger Ungleichheiten
    SDG 10 – Weniger Ungleichheiten

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