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What Is the Role of Genetic Testing in Movement Disorders Practice?

Current Neurology and Neuroscience Reports volume 11, pages 351–361 (2011)Cite this article

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.

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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.

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No potential conflicts of interest relevant to this article were reported.

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  1. Section of Clinical and Molecular Neurogenetics at the Department of Neurology, University of Lübeck, Ratzeburger Allee 160, 23538, Lübeck, Germany

    Susanne A. Schneider & Christine Klein

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  1. Susanne A. Schneider
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  2. Christine Klein
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Correspondence to Susanne A. Schneider.

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Schneider, S.A., Klein, C. What Is the Role of Genetic Testing in Movement Disorders Practice?. Curr Neurol Neurosci Rep 11, 351–361 (2011). https://doi.org/10.1007/s11910-011-0200-4

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Keywords

  • Genetic testing
  • Movement disorders
  • Parkinson’s disease
  • Dystonia
  • Huntington’s disease
  • Ethics
  • Insurance companies
  • Prenatal testing
  • Presymptomatic testing
  • Susceptibility testing
  • Patient confidentiality
  • Testing guidelines
  • GINA
  • Legal regulations
  • Direct-to-consumer testing
  • Genetic testing in minors