A RECENT study presented at the American Epilepsy Society Annual Meeting 2024 highlights a critical lack of diversity in genetic epilepsy research. Researchers analyzed 68 genome-wide association studies (GWAS) involving over 3 million participants to identify genetic variations linked to epilepsy. They found that only 8% of participants with epilepsy were of non-European descent, leaving significant gaps in understanding and care for diverse populations.
Genome-wide association studies play a key role in identifying genetic markers associated with epilepsy, known as single nucleotide polymorphisms (SNPs). These markers contribute to polygenic risk scores (PRS), which estimate an individual’s likelihood of developing epilepsy based on their genetic profile. However, PRS are most accurate for populations well-represented in research. With 71.5% of participants in epilepsy GWAS of European ancestry and only minimal representation from African, East Asian, South Asian, and admixed American populations, the PRS is far less accurate for underrepresented groups.
The lack of diversity not only limits equitable care but also hinders scientific understanding of epilepsy. Although studies with European-only participants accounted for 66% of all GWAS, they contributed just 21% of significant SNPs. In contrast, studies including non-European participants made up only 16% of GWAS but identified 58% of the significant SNPs. This highlights the potential for diverse research to uncover critical genetic insights.
The disparity stems from several factors. Most genome-wide studies are conducted in countries such as Iceland, the UK, and the US, where populations of European descent are dominant. Additionally, historical exploitation and mistrust of genetic research have discouraged participation from non-European communities. Researchers also face challenges in analyzing non-European genetic data due to inadequate databases, tools, and references.
Addressing this imbalance requires global investment in genomics, particularly in low- and middle-income countries. Initiatives like H3Africa aim to support these efforts. Diversifying the genomics workforce and ensuring that data from diverse populations are accessible are also essential steps. By improving representation, researchers can advance genetic understanding and provide better treatment options for all individuals with epilepsy.
Reference: American Epilepsy Society. Limited diversity in genetic epilepsy research impacts diagnosis and treatment. 2024. Available at: https://aesnet.org/about/aes-press-room/press-releases/lack-of-diversity-in-genetic-studies-of-epilepsy–translates-to-a-lack-of-information-needed-to-improve-care. Last accessed: 11 November 2024.
Katie Wright | AMJ
