Core issues, case studies, and the need for expanded Legacy African American genomics

Area of Science:

• Genomic studies
• Bioethics
• Population genetics

Background:

• Genomic research involving African Americans has a complex and often exploitative history.
• Legacy African Americans have been historically subjected to unethical biomedical studies.
• Current genomic research disproportionately underrepresents African American diversity.

Purpose of the Study:

• To review core issues affecting African American genomic studies.
• To highlight the current status of genomic research among African Americans using case studies.
• To identify bioethical issues prevalent in historical and current African American genomic research.

Main Methods:

• A metadatabase was synthesized from 22 publicly accessible databases to identify bioethical issues.
• Review and evaluation of existing literature on African American genomic diversity.
• Inclusion of emic perspectives and insights from case studies (New York African Burial Ground, Gullah Geechee people).

Main Results:

• A significant paucity of research exists on underrepresented African American genomic diversity.
• African Americans are disproportionately underrepresented across all categories of genomic testing compared to European Americans.
• Case studies demonstrate the value of genomic research in understanding historical populations (New York African Burial Ground) and current health disparities (Gullah Geechee).

Conclusions:

• Despite historical exploitation, ethical safeguards now exclude marginalized populations from genomic research benefits.
• Enhanced inclusion of African Americans in genomic databases and trials is essential for advancing precision medicine and human evolutionary biology.
• Recommendations include emphasizing the relevance of inclusion, fostering scientific expertise, ethical engagement with descendants, and increasing community researchers.