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Letters to the Editor
January 2005

Impact of Presymptomatic Genetic Testing for Hereditary Ataxia and Neuromuscular Disorders: Where is the Evidence?

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Copyright 2005 American Medical Association. All Rights Reserved. Applicable FARS/DFARS Restrictions Apply to Government Use.2005

Arch Neurol. 2005;62(1):164. doi:10.1001/archneur.62.1.164-a

In their study on the impact of presymptomatic genetic testing for neurogenetic disorders, Smith et al1 found that 13 (33%) of 39 individuals reported elevated anxiety levels during follow-up, from which they conclude that anxiety may persist in some persons with positive or negative test results. However, a closer look at their data reveals that these individuals had elevated anxiety scores at different follow-up assessments, since 10 (26%) of 38 individuals reported elevated anxiety levels immediately after testing, and 5 (21%) of 24 at 1-year and 7 (39%) of 18 at 2-year follow-up. Although these percentages of patients with elevated anxiety levels are substantial, they do not provide evidence for a long-term impact of genetic testing. The response rates at the follow-up assessments were 76%, 48%, and 36%, and it is not reported whether these were representative samples of the 50 participants who entered the study.

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