Diving into the Unknown to Address Cancer Disparities: Genetic Diversity and Variants of Unknown Significance

Genomic research has long been skewed toward European populations, leading to significant underrepresentation of Non-European groups in both research studies and genomic databases. This bias results in genomic annotations that are less effective at identifying clinically relevant variants in these underrepresented populations. As a consequence, Non-European populations exhibit rates of variants of unknown significance (VUS) up to two times higher than their European counterparts.

The overrepresentation of VUS in Non-European populations is a crucial challenge in addressing health disparities. These variants, which are currently classified without clear clinical relevance, may hold significant potential for improving healthcare outcomes. By prioritizing research on VUS in these populations, there is an opportunity to discover clinically actionable insights that could lead to better diagnostic and therapeutic strategies.

Key topics to be covered:

Disparities in Genomic Research: The historical bias towards European populations and its impact on genomic data interpretation. VUS Rates and Clinical Implications: The heightened prevalence of VUS in Non-European populations and its role in exacerbating healthcare inequities. Opportunities for Health Equity: How focusing on the study of VUS can help close health disparity gaps, by offering new, clinically actionable genomic insights. This presentation aims to highlight the importance of increasing diversity in genomic databases and research to ensure equitable healthcare advances for all populations.

Learning Objectives:

• Identify factors that contribute to health disparities.
• Distinguish differences in genetic variation across populations.
• Define variants of unknown significance.