Genome research bias: Human flaws seeping into genetic science

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  Quantumrun Foresight
• December 14, 2021

Insight summary

Unlocking the secrets of our DNA is a thrilling journey, but it's one that's currently skewed towards people of European descent, leading to potential health disparities. Despite the rich genetic diversity across the globe, most genetic research focuses on a small subset of the population, inadvertently promoting race-based medicine and potentially harmful treatments. To address this, initiatives are underway to diversify genetic databases, aiming to enhance healthcare outcomes for all and foster equality in genomic research.

Genome research bias context

Even though genetic information is available due to the abundance of do-it-yourself (DIY) genetic kits, most of the DNA that scientists use for extensive research studies comes from people of European descent. This practice can lead to inadvertent race-based medicine, misdiagnoses, and harmful treatment.

According to the science journal Cell, modern humans evolved in Africa more than 300,000 years ago and spread across the continent. A tiny number of descendants departed the continent some 80,000 years ago, migrating throughout the world and taking just a portion of their predecessors’ genes with them. However, genetic studies are primarily focused on that subset. In 2018, 78 percent of genome-wide association studies (GWAS) samples came from Europe. However, Europeans and their descendants comprise only 12 percent of the global population. 

According to researchers, biased genetic databases cause scientists and clinicians to identify problems or prescribe treatments relevant for persons with European genes but not for people from other ethnic groups. This practice is also known as race-based medicine. Geneticists believe health inequality will worsen when only specific racial profiles are prioritized. While humans share 99.9 percent of their DNA, that 0.1 percent variation caused by diverse genes can be a matter of life and death.

Disruptive impact 

According to Broad Institute geneticist Alicia Martin, African Americans routinely experience racist practices in the medical field. They are, as a result, less likely to trust people who work in medicine. However, this problem is not simply due to racism; bias also plays a role. As a result, health outcomes are four to five times more accurate for individuals with European ancestry than for persons of African descent. Martin claims it’s not simply a problem for people of African heritage but a concern for everyone.

H3Africa is an organization attempting to fix this genomic gap. The initiative provides researchers with the necessary infrastructure to complete genetic research and receive training funds. One of the organization’s goals is that African researchers will be able to gather data related to the region’s scientific priorities. This opportunity not only allows them to investigate issues related to genomics but also to be leaders in publishing findings on these topics.

Meanwhile, other firms have similar objectives as H3Africa. For example, Nigerian startup 54gene works with African hospitals to collect DNA samples for genetic research. Meanwhile, the UK National Institutes of Health is collecting at least 1 million DNA samples from the US’ diverse population to counterbalance the dominance of European genes in its databases.

Implications of genomic research bias

Wider implications of genomic research bias may include: 

• Increased bias in healthcare, with doctors being unable to diagnose and treat ethnically diverse patients as readily as other population groups.
• The development of ineffective drugs and treatments that disproportionately affect ethnic minorities.
• Minorities potentially experiencing unofficial discrimination by insurance companies and other service providers due to a lack of genomic understanding for minorities.
• Current and future forms of ethnic or racial discrimination increasingly focusing on genetics, fueled by a lack of genomic understanding for minorities.
• A loss of opportunities for scientists researching uncategorized genes, leading to more hurdles for equality in genomic research.
• More countries collaborating to diversify their public biobanks in response to increasing criticisms about biased healthcare research.
• Improved drug and therapy research that considers other populations, opening up opportunities for biotech and pharma firms.

Questions to consider

• Why do you think there’s a lack of opportunities for scientists to study ethnically diverse genes? 
• Do you think scientists should revisit past research through the lens of ethnic and racial bias? 
• What policies need to be updated within the genomic research field to make its findings more inclusive for all minorities?