Article

European Journal of Human Genetics (2009) 17, 295–300; doi:10.1038/ejhg.2008.164; published online 10 September 2008

Decreasing uptake of predictive testing for Huntington's disease in a German centre: 12 years' experience (1993–2004)

Christiane Bernhardt1, Anne-Marie Schwan1, Peter Kraus2, Joerg Thomas Epplen1 and Erdmute Kunstmann1,3

  1. 1Department of Human Genetics, Ruhr-University of Bochum, Bochum, Germany
  2. 2Department of Neurology, St Josef-Hospital, Bochum, Germany
  3. 3Department of Human Genetics, University of Wuerzburg, Wuerzburg, Germany

Correspondence: Dr E Kunstmann, Human Genetics, University of Wuerzburg, Am Hubland, 97074 Wuerzburg, Germany. Tel: +49 931 888 4435; Fax: +49 931 45265859; E-mail: erdmute.kunstmann@rub.de

Received 4 March 2008; Revised 16 July 2008; Accepted 8 August 2008; Published online 10 September 2008.

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Abstract

In this retrospective study, we examined changes in decision-making for and against the predictive genetic test for Huntington's disease including 478 persons at risk who had undergone genetic counselling in one centre in Germany between 1993 and 2004. At the outset of the counselling procedure the majority of subjects (71%) wanted to make use of the test, yet the actual demand of the predictive test result declined from 67 to 38% over the years. In addition, the time interval between counselling session and blood withdrawal was reduced, as determined by the counselees: in 2000–2004 the majority of persons at risk made the appointment for blood withdrawal after the shortest possible time span. Demographic factors of the cohort remained comparatively stable in the investigated time period. An association was evident between the ratio of test usage and the counselling person. These and other possible factors influencing the time flow of predictive DNA testing are discussed. Further studies are necessary to investigate whether changes of test demand rates are a general phenomenon.

Keywords:

genetic testing, genetic counselling, Huntington's disease, predictive testing

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