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  • Omar Sawwan

Diversity in genomic research

What is meant by “diversity” in genomics?

When talking about diversity in genomics (the study of genomes/full sets of DNA), it is important to keep in mind that human DNA is 99.9% identical in all people. The remaining .1% of DNA is what makes us genetically different from each other, from hair color to everything else. The human genome comprises over 3 billion letters, so a variant can occur at any position within this sequence. These variants vary in frequency across different human populations; some are rare and specific to particular families, while others are common and found across multiple populations. Differences in genomes from distinct populations arise due to various factors, including patterns of human reproduction and migration. Additionally, certain variants became prevalent in specific populations because they offered advantages that aided adaptation to environmental changes. Keeping all this in mind, diversity in genomics is based on researchers observing many individuals and accounting for their differences in order to better understand their genetic traits as well as how those observations can be used to improve the health and wellbeing of humankind.

Why should diversity be incorporated in genomic research?

Genomics research ultimately relies on DNA provided by individuals willing to have their genomes studied. The majority of existing genomics research has been based on individuals of European ancestry, creating a gap of knowledge in modern genomics that fails to represent individuals of other ethnicities. This is especially problematic when considering how chances of developing certain diseases can vary based on ethnicity. The overarching importance of diversity in genomic research ultimately lies in expanding genomic research past its ethnic barriers to account for people globally. The code within the human genome is intricate, and genomics research has only begun to uncover the complexities of what differentiates us at the DNA level.

Why has it been difficult to incorporate diversity into past research?

Historically, a lack of clear communication has left some research participants unclear about the benefits of their participation and how their data would be used. Because of this, researchers risk losing information that could help them make breakthroughs. To address this, researchers need to understand why people may be hesitant to participate in genomic studies and improve the accessibility of their communication with participants. While this effort demands additional time, resources, and effort, it is crucial. Excluding diverse populations from studies can result in significant gaps in scientific understanding and may perpetuate existing disparities in genomics research.

What is being done to improve diversity in genomic research today?

Projects such as The Human Cell Atlas and The 1,000 Genomes Project collect in-depth information about genomes from people globally. The Implementing Genomics in Practice (IGNITE) Network assesses potential approaches for real-world applications of genomic medicine in diverse clinical settings. Another network called the Electronic Medical Records and Genomics (eMERGE) Network takes a different approach and focuses on developing clinical protocols that better assess diverse populations and their genomic risks.

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