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Objective: Hispanics continue to face challenges when trying to access health care, including epilepsy care and genetic‐related health care services. This study examined epilepsy genetic knowledge and beliefs in this historically underserved population. Methods: Questionnaires were completed by 641 adults with epilepsy without identified cause, of whom 122 self‐identified as Hispanic or Latino and 519 as non‐Hispanic. Participants were asked about their views on the contribution of genetics to the cause of their epilepsy ("genetic attribution"), optimism for advancements in epilepsy genetic research ("genetic optimism"), basic genetic knowledge, and epilepsy‐specific genetic knowledge. Generalized linear models were used to compare the two groups in the means of quantitative measures and percents answered correctly for individual genetic knowledge items. Analyses were adjusted for age, sex, education, religion, family history of epilepsy, and time since last seizure. Results: Hispanics did not differ from non‐Hispanics in genetic attribution, genetic optimism, or number of six basic genetic knowledge items answered correctly. The number of nine epilepsy‐specific genetic knowledge items answered correctly was significantly lower for Hispanics than non‐Hispanics (adjusted mean = 6.0 vs. 6.7, p <.001). After adjustment for education and other potential mediators, the proportion answered correctly was significantly lower for Hispanics than non‐Hispanics for only two items related to family history and penetrance of epilepsy‐related genes. Only 54% of Hispanics and 61% of non‐Hispanics answered correctly that "If a person has epilepsy, his or her relatives have an increased chance of getting epilepsy." Significance: Despite large differences in sociodemographic variables including education, most attitudes and beliefs about genetics were similar in Hispanics and non‐Hispanics. Epilepsy‐specific genetic knowledge was lower among Hispanics than non‐Hispanics, and this difference was mostly mediated by differences in demographic variables. Genetic counseling should address key concepts related to epilepsy genetics to ensure they are well understood by both Hispanic and non‐Hispanic patients. [ABSTRACT FROM AUTHOR]

Objective: Exome sequencing (ES) has played an important role in the identification of causative variants for individuals with epilepsy and has proven to be a valuable diagnostic tool. Less is known about its clinical utility once a diagnosis is received. This study systematically reviewed the impact of ES results on clinical decision‐making and patient care in a pediatric epilepsy cohort at a tertiary care medical center. Methods: Pediatric patients with unexplained epilepsy were referred by their neurologist, and informed consent was obtained through an institutional review board–approved research ES protocol. For patients who received a genetic diagnosis, a retrospective chart review was completed of the probands and their relatives' medical records prior to and after genetic diagnosis. The following outcomes were explored: provider management recommendations, changes in care actually implemented, and anticipatory guidance provided regarding the proband's condition. Results: Fifty‐three probands met the inclusion criteria. Genetic diagnosis led to at least one provider recommendation in 41.5% families (22/53). Recommendations were observed in the following categories: medication, screening for non‐neurological comorbidities/referrals to specialists, referrals to clinical research/trials, and cascade testing. Anticipatory guidance including information about molecular diagnosis, prognosis, and relevant foundations/advocacy groups was also observed. Significance: Results demonstrate the clinical utility of ES for individuals with epilepsy across multiple aspects of patient care, including anti‐seizure medication (ASM) selection; screening for non‐neurological comorbidities and referrals to appropriate medical specialists; referral to reproductive genetic counseling; and access to research, information, and support resources. To our knowledge, this is the first study to evaluate the clinical utility of ES for a pediatric epilepsy cohort with broad epilepsy phenotypes. This work supports the implementation of ES as part of clinical care in this population. [ABSTRACT FROM AUTHOR]

Objective: Numerous genetic testing options for individuals with epilepsy have emerged over the past decade without clear guidelines regarding optimal testing strategies. We performed a systematic evidence review (SER) and conducted meta‐analyses of the diagnostic yield of genetic tests commonly utilized for patients with epilepsy. We also assessed nonyield outcomes (NYOs) such as changes in treatment and/or management, prognostic information, recurrence risk determination, and genetic counseling. Methods: We performed an SER, in accordance with PRISMA (Preferred Reporting Items for Systematic Reviews and Meta‐Analyses), using PubMed, Embase, CINAHL, and Cochrane Central through December of 2020. We included studies that utilized genome sequencing (GS), exome sequencing (ES), multigene panel (MGP), and/or genome‐wide comparative genomic hybridization/chromosomal microarray (CGH/CMA) in cohorts (n ≥ 10) ascertained for epilepsy. Quality assessment was undertaken using ROBINS‐I (Risk of Bias in Non‐Randomized Studies of Interventions). We estimated diagnostic yields and 95% confidence intervals with random effects meta‐analyses and narratively synthesized NYOs. Results: From 5985 nonduplicated articles published through 2020, 154 met inclusion criteria and were included in meta‐analyses of diagnostic yield; 43 of those were included in the NYO synthesis. The overall diagnostic yield across all test modalities was 17%, with the highest yield for GS (48%), followed by ES (24%), MGP (19%), and CGH/CMA (9%). The only phenotypic factors that were significantly associated with increased yield were (1) the presence of developmental and epileptic encephalopathy and/or (2) the presence of neurodevelopmental comorbidities. Studies reporting NYOs addressed clinical and personal utility of testing. Significance: This comprehensive SER, focused specifically on the literature regarding patients with epilepsy, provides a comparative assessment of the yield of clinically available tests, which will help shape clinician decision‐making and policy regarding insurance coverage for genetic testing. We highlight the need for prospective assessment of the clinical and personal utility of genetic testing for patients with epilepsy and for standardization in reporting patient characteristics. [ABSTRACT FROM AUTHOR]