To evaluate the extent to which self -identified ethnic backgrounds acts as a barrier for children with epilepsy to receive genetic testing.

We retrospectively studied charts of children age 0-18 years diagnosed with childhood epilepsy between 2015-20 who have undergone any genetic testing at a tertiary care facility in RI. We compared rates of genetic tests between patient’s whose self-identified ethnic backgrounds included non-Black LatinX patients, Black patients, and White patients, using generalized linear mixed effects modeling. For the purpose of this study, we defined disparity as patients of different ethnic backgrounds receiving different rates of genetic testing despite similar rates of epilepsy.

Non-Black LatinX patients tended to have earlier age of seizure onset (M = 3.12 years,) relative to white patients (M = 4.24 years; RR = 0.74, p = 0.0608). Black patients tended toward slight older ages of seizure onset. Non-Black LatinX patients were more likely to complete genetic testing, specifically the karyotype test for patients with seizure onset before age two (OR = 3.82,p = 0.0276); and to some extent for patients with seizure onset after age two, the gene panel (OR = 2.41, p = 0.0767) and microarray tests (OR = 4.15, p = 0.0697). Black patients with seizure onset after age two also received more gene panel tests relative to white patients (OR = 6.42 p= 0.0103). 

Non-Black LatinX patients in particular may face worse epilepsy, perhaps due to a higher genetic predisposition, resulting in being offered and completing genetic work-up more frequently.  However, we cannot rule out cultural differences playing a role such as limited  healthcare access or lack of trust of health care providers. In summary, there was no evidence that there were barriers to patients of LatinX or Black ethnicity resulting in limited genetic epilepsy tests at our facility.