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. 2014 Nov;55(11):1705-13.
doi: 10.1111/epi.12810. Epub 2014 Sep 29.

Genetic testing preferences in families containing multiple individuals with epilepsy

Janice O Okeke  1 , Virginia E Tangel, Shawn T Sorge, Dale C Hesdorffer, Melodie R Winawer, Jeff Goldsmith, Jo C Phelan, Wendy K Chung, Sara Shostak, Ruth Ottman
Affiliations

Genetic testing preferences in families containing multiple individuals with epilepsy

Janice O Okeke et al. Epilepsia. 2014 Nov.

Abstract

Objective: To examine genetic testing preferences in families containing multiple individuals with epilepsy.

Methods: One hundred forty-three individuals with epilepsy and 165 biologic relatives without epilepsy from families containing multiple affected individuals were surveyed using a self-administered questionnaire. Four genetic testing scenarios were presented, defined by penetrance (100% vs. 50%) and presence or absence of clinical utility. Potential predictors of genetic testing preferences were evaluated using generalized estimating equations with robust Poisson regression models. The influence of 21 potential testing motivations was also assessed.

Results: For the scenario with 100% penetrance and clinical utility, 85% of individuals with epilepsy and 74% of unaffected relatives responded that they would definitely or probably want genetic testing. For the scenario with 100% penetrance but without clinical utility, the proportions who responded that they would want testing were significantly lower in both affected individuals (69%) and unaffected relatives (57%). Penetrance (100% vs. 50%) was not a significant predictor of genetic testing interest. The highest-ranking motivations for genetic testing were the following: the possibility that the results could improve health or health care, the potential to know if epilepsy in the family is caused by a gene, and the possibility of changing behavior or lifestyle to prevent seizures.

Significance: Interest in epilepsy genetic testing may be high in affected and unaffected individuals in families containing multiple individuals with epilepsy, especially when testing has implications for improving clinical care.

Keywords: Epidemiology; Epilepsy; Genetic testing; Genetics; Patient preferences.

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Figures

Figure 1
Figure 1
Distribution of responses to the four genetic testing scenarios by individuals with epilepsy and biological relatives without epilepsy.
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References

    1. Helbig I, Lowenstein DH. Genetics of the epilepsies: where are we and where are we going? Curr Opin Neurol. 2013;26:179–185. - PMC - PubMed
    1. Hildebrand MS, Dahl HH, Damiano JA, Smith RJ, Scheffer IE, Berkovic SF. Recent advances in the molecular genetics of epilepsy. J Med Genet. 2013;50:271–279. - PubMed
    1. Ottman R, Hirose S, Jain S, et al. Genetic testing in the epilepsies--report of the ILAE Genetics Commission. Epilepsia. 2010;51:655–670. - PMC - PubMed
    1. Pal DK, Pong AW, Chung WK. Genetic evaluation and counseling for epilepsy. Nat Rev Neurol. 2010;6:445–453. - PubMed
    1. Pong AW, Pal DK, Chung WK. Developments in molecular genetic diagnostics: an update for the pediatric epilepsy specialist. Pediatr Neurol. 2011;44:317–327. - PubMed

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