Equity and Inclusion in Assessing Hereditary Cancer Risk: Insights From Excluded Communities, Structured Interviews,...

Area of Science:

• Genomics and Precision Medicine
• Health Equity
• Population Health

Background:

• Genomic databases for hereditary cancer risk assessment are predominantly based on European ancestry.
• Underrepresentation of diverse populations leads to increased "variant of unknown significance" (VUS) results in genetic testing.
• Existing efforts to broaden representation face challenges with mixed-ancestry individuals and overlook the impact of racism.

Purpose of the Study:

• To identify and describe the challenges in including underrepresented population groups in hereditary cancer risk assessment.
• To explore insights from ongoing work with Hispanic/Latino, Black/African, and Indigenous communities.
• To demonstrate data gaps and propose solutions for inclusive hereditary cancer data resources.

Main Methods:

• Analysis of empirical data from population databases to identify gaps in hereditary cancer gene variant representation.
• Interviews with experts in genetic testing and data sharing to gather insights on creating inclusive resources.
• Case studies focusing on healthcare access for Hispanic/Latino populations, community engagement with Black/African diasporic groups, and Indigenous Data sovereignty.

Main Results:

• Significant gaps exist in the representation of hereditary cancer gene variants across underrepresented populations.
• Inequities in patient access to culturally-sensitive healthcare and research, along with funding disparities, contribute to underrepresentation.
• Expert interviews suggest various strategies for improving data sharing and inclusivity in genetic testing resources.

Conclusions:

• There is no single solution to creating inclusive hereditary cancer data resources; a multi-faceted approach is required.
• Addressing systemic inequities in research and healthcare access is essential for equitable genetic testing.
• Improving data sharing and representation will better serve diverse populations in hereditary cancer risk assessment and management.