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Semin Neurol 2011; 31(5): 542-552
DOI: 10.1055/s-0031-1299792
© Thieme Medical Publishers

Genetic Testing for Neurologic Disorders

Susanne A. Schneider1 , Uwe H. Schneider2 , Christine Klein1
  • 1Schilling Section of Clinical and Molecular Neurogenetics, Department of Neurology, University of Lübeck, Lübeck
  • 2Center for German and International Law of Financial Services, Johannes Gutenberg University Mainz, Wallstraße 11, Mainz, and Schmitz & Partner Rechtsanwälte, Of Counsel, Frankfurt am Main, Germany
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Publication History

Publication Date:
21 January 2012 (online)

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ABSTRACT

New technologies and more research in genetics have revealed an increasing amount of genetic data and identified new diseases. In parallel to the wider availability of genetic testing, efforts have been made to regulate the use of genetic technology and genetic information. The swift pace of developments, not surprisingly, may cause uncertainty among those confronted with genetics. The authors review the current state of genetic testing with a focus on movement disorders. They introduce terminology (inheritance patterns; penetrance; clinical and genetic heterogeneity and types of testing, including influences of direct-to-consumer testing) and discuss general aspects of genetics, including indication for testing, familial implications as well as social, ethical, and in particular legal implications (discrimination acts, insurance aspects, protection of data of deceased, etc.). They also cover recent developments with regard to new molecular techniques, economic issues, and the difficulties of data interpretation.

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

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Privatdozentin Dr. Susanne A. SchneiderM.D. Ph.D. 

Section of Clinical and Molecular Neurogenetics, Department of Neurology

University of Lübeck, Ratzeburger Allee 160, 23538 Lübeck, Germany

Email: susanne.schneider@neuro.uni-luebeck.de

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