Parents’ interest in genetic testing of their offspring in multiplex epilepsy families

Abstract

Summary Objective To evaluate parents’ interest in genetic testing of their offspring in families containing multiple individuals with epilepsy. Methods 77 parents with affected offspring and 173 parents without affected offspring from families containing multiple individuals with epilepsy completed a questionnaire asking about their interest in genetic testing of their offspring. Interest in testing was ascertained in four scenarios defined by clinical utility and penetrance of the gene in the test (100% vs 50%). Pairwise agreement in interest was assessed between parents for testing themselves versus their offspring, and between mothers and fathers for their offspring. Results Among parents with affected offspring, the proportion interested in genetic testing of a child (“diagnostic testing”) was 86% in the 100% penetrance, clinical utility scenario, and 71% in the 100% penetrance, no clinical utility scenario (p=0.007). Among parents without affected offspring, comparable proportions interested in genetic testing of offspring (“predictive testing”) were 74% and 53% (p<0.001), and were significantly lower than in parents with affected offspring (clinical utility, p=0.02; no clinical utility, p=0.01). Interest in testing did not differ by gene penetrance. Parents’ agreement in testing interest for themselves versus their offspring was “substantial” (90% agreement, kappa=0.72) for a test with clinical utility, and “almost perfect” for a test without clinical utility (94% agreement, kappa=0.88). Agreement in testing interest between mothers and fathers was “moderate” for a test with clinical utility (85% agreement, kappa=0.48,), and “fair” for a test without clinical utility (67% agreement, kappa=0.30). Significance Interest in diagnostic genetic testing is strong among parents with offspring with epilepsy, particularly when the test offers clinical utility. Testing interest is lower for a diagnostic test without clinical utility, or for a predictive test in offspring at risk of developing epilepsy in the future.

Depression and genetic causal attribution of epilepsy in multiplex epilepsy families

“…As reported previously, 20 survey participation rates increased with advancing age, and were higher in women than in men, in college graduates versus nongraduates, and in individuals with epilepsy, compared with biologic relatives without epilepsy or married-in individuals. Individuals who completed the survey averaged 53 years of age (standard error of the mean [SEM] 0.70), and 88% were white, non-Hispanic; 59% were women; and 54% were college graduates.…”

“…The data are from a survey of families containing multiple individuals with epilepsy who previously participated in genetic research. Our earlier findings from this study show that interest in genetic testing is strong in these families, particularly when it is likely to lead to improved clinical care . We also found that felt stigma was increased in family members with epilepsy who perceived that genetics played a “medium” or “big” role in causing epilepsy in the family …”

“…Our earlier findings from this study show that interest in genetic testing is strong in these families, particularly when it is likely to lead to improved clinical care. 19,20 We also found that felt stigma was increased in family members with epilepsy who perceived that genetics played a "medium" or "big" role in causing epilepsy in the family. 21 Comorbidity of epilepsy with depression could arise from multiple mechanisms, including psychosocial impacts of having epilepsy and effects of antiepileptic treatments, and shared pathophysiologic mechanisms possibly mediated by shared genetic susceptibility.…”

Genetic attribution and perceived impact of epilepsy in multiplex epilepsy families

“…15 To investigate the relations of genetic attribution to perceived psychosocial impact of epilepsy, we analyzed data from a study of families with multiple individuals with epilepsy who had previously participated in genetic research. 16,17 Also, felt stigma was higher in people with epilepsy who attributed their disorder to a genetic cause than in others. To date, results indicate that interest in genetic testing for oneself or one's offspring is strong, especially if genetic findings are likely to have clinical utility.…”

“…To date, results indicate that interest in genetic testing for oneself or one's offspring is strong, especially if genetic findings are likely to have clinical utility. 16,17 Also, felt stigma was higher in people with epilepsy who attributed their disorder to a genetic cause than in others. 18 Additionally, among family members without epilepsy, the perceived chance of having an epilepsy-related mutation was associated with increased prevalence of depressive symptoms.…”