South Asia: The Missing Diverse in Diversity

Area of Science:

• Population Genetics
• Human Diversity
• Genomic Research

Background:

• South Asia represents 25% of the global population, characterized by immense genetic and environmental diversity.
• The region hosts over 4500 distinct anthropologically defined groups with varied languages, religions, and cultures.
• Genetic diversity in South Asia arises from intricate population histories, migration, and endogamy.

Purpose of the Study:

• To increase awareness of the substantial genetic diversity within the South Asian population.
• To highlight the critical underrepresentation of South Asians in genetic research.
• To propose strategies for enhancing future research involving South Asian populations.

Main Methods:

• This study is a review and awareness initiative, not involving new experimental data collection.
• Analysis of existing literature on South Asian population genetics and research participation.
• Identification of knowledge gaps and research barriers.

Main Results:

• South Asians are significantly underrepresented, comprising less than 2% of participants in global genetic studies.
• This underrepresentation leads to a deficit in understanding population-specific genetic disease risks.
• Existing research does not fully capture the nuanced genetic landscape of South Asia.

Conclusions:

• Addressing the underrepresentation of South Asians in genetic research is crucial for equitable health outcomes.
• Future studies must adopt inclusive strategies to accurately represent South Asian genetic diversity.
• Enhanced genetic research in South Asians will improve understanding of disease etiology and personalized medicine.