A recent study presented at the American Epilepsy Society annual meeting in Los Angeles has shed light on the significant lack of racial diversity in genome-wide association studies (GWAS) for epilepsy. Dr. Chethan Rao from the University of Maryland in Baltimore reported that a staggering 71.5% of individuals tested in these studies were of European ancestry, while only 0.5% were of African descent.
The research revealed that this lack of diversity has potentially limited our understanding of genetic factors associated with epilepsy. Notably, studies that included participants from multiple ancestries identified a higher number of significant single nucleotide polymorphisms (SNPs) linked to epilepsy conditions. While studies with only European ancestry participants made up 66% of all studies, they contributed to just 21% of the significant SNPs found. In contrast, the 16% of studies that included two or more ancestries accounted for 58% of the significant SNPs identified.
Dr. Rao emphasized the importance of these findings, stating, “The more non-European patients we involve in these studies, the more we’re realizing that there are other statistically significant SNPs and clinically significant data that we can use for management of patients and diagnosis.”
The implications of this research extend beyond academic interest. GWAS results are incorporated into polygenic risk scores and used for predicting adverse events, including severe side effects from medications. For instance, some Asian ancestry patients are more susceptible to developing severe rashes like Stevens-Johnson syndrome from sodium channel blocker medications.
Dr. David Labiner from the University of Arizona in Tucson commented on the challenge of improving diversity in genetic studies, acknowledging historical sensitivities among certain populations. He stressed the importance of having diverse populations to make the results generalizable, echoing ongoing efforts by the NIH and FDA to promote diversity in clinical trials.
As the field of epilepsy research moves forward, addressing these racial disparities in genetic studies will be crucial for developing more comprehensive and effective treatments for all patients, regardless of their ancestry.
See: “Racial Diversity Lacking in Epilepsy Genetics Studies” (December 9, 2024)
