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Interest in Genetic Testing High in ET Families

Tremor Other Hyperkinet Mov; ePub 2018 Mar 27; Naranjo, et al

Interest in genetic testing was high in families with a history of essential tremor (ET), according to a recent study. While genetic testing is not currently available for ET, the hunt for ET genes is ongoing, and this is a highly familial disorder. Researchers surveyed 34 ET probands and their relatives (43 affected, 28 unaffected) enrolled in the Family Study of Essential Tremor to assess their interest in genetic testing. They examined whether clinical factors influenced their interest in testing. Clinical utility (“Your physician will be able to use the information obtained to improve your care”) and penetrance (“How likely an individual who carries an ET gene is to develop ET”) were defined for participants. They found:

  • Interest in genetic testing was high in ET families (90/105 [85.7%]).
  • There was a significant difference between affected (including probands and affected relatives) and unaffected relatives in terms of their interest in genetic testing, with the former being more interested (70/77 [90.9%] vs 20/28 [71.4%]).
  • Participants were more likely to want testing in the scenarios with high clinical utility; disease penetrance was not a determining factor.

Citation:

Naranjo KV, Park J, Chen KP, et al. Genetic testing preferences of individuals in families with essential tremor. [Published online ahead of print March 27, 2018]. Tremor Other Hyperkinet Mov. doi:10.7916/D8B296RK.