A "Whiteness" Epidemic is Plaguing Genetic Research

Sarah Geiselhart

Look up from this paper. Is anyone around you? Next to you? If so, I have news for you both: at the DNA level, you are 99.9 percent identical. 

This conclusion was established by the Human Genome Project upon completion of its 13-year project in 2003. Its goal was to produce a human reference genome, or a “master blueprint” of the genetic makeup of the human species. The 0.1 percent of variance in our DNA represents the expression of phenotypic differences (our physical traits, like hair color and height), disease susceptibility, and drug responses among individuals in populations. Due to the lack of individuality from a DNA standpoint, scientists have established that there is no genetic basis for the concept of race (Ahmed & Zeeshan, 2020, pg. 3). However, genetics research is still overwhelmingly “white”. 

The issue lies partly in the Human Genome Project; according to Constance Hillard, an evolutionary historian at the University of North Texas, it is “...essentially a European genome,” and “...[the] data doesn’t work for anybody apart from people of European ancestry.” (Saey, pg. 1). This is due in part to the samples utilized in the Human Genome Project’s research, the problems with which can be boiled down to two major issues. First, the donors were primarily white. Second, of those samples that came from non-white individuals, considerable portions of their DNA was of European ancestry. This DNA still had to be utilized to maintain the project’s integrity and accuracy; DNA couldn’t be cherry-picked because there was too much of one kind. For example, 70 percent of the Human Genome Project sequence was taken from one donor, RP11, an African American male. Roughly half of his DNA was inherited from European ancestors, and the other half from sub-Saharan African. With data utilized in this way, it is no wonder that the genome constructed is only beneficial to those with European ancestry (Saey, pg. 4). 

The largest contributor to the racial inequities plaguing genetics are genome-wide association studies (GWAS). These studies, which hone in on the 0.1 percent variances in our DNA, seek to unearth common genetic variants that may explain why one person is susceptible to a certain illness while another isn’t. In the article, “DNA databases are too white, so genetics doesn’t help everyone. How do we fix that?” Tina Saey, a science journalist for Science News, writes that as of 2018, Cell, a peer-reviewed scientific journal, reported that more than 78 percent of GWAS participants were of European ancestry. This number becomes even more of a concerning factor upon learning that Europeans and their descendents only make up about 12 percent of the population worldwide (Stein, pg. 1). 

Sam Oh, an epidemiologist at the University of California, San Francisco, believes that this is primarily due to the race of the scientists carrying out GWAS, which is overwhelmingly white. She states that “Generally, the participants who are easier to recruit are people who look like the scientists themselves - people who share similar language, similar culture. It’s easier to establish a rapport and you may already have inroads into communities you’re trying to recruit.” Most GWAS are funded and carried out by the National Institutes of Health, who report that Black and Hispanic researchers collectively receive about 6 percent of research project grants. This is disproportionately low considering that Black and Hispanic individuals make up over 30% of the U.S. population (Stein, pg. 2). 

But why is “whiteness” such a problem in genetics? To begin, there’s precision medicine. Precision medicine is the practice of tailoring treatments based on an individual’s genetic data, lifestyle, environment, and physiology. It has a higher chance of success when the health histories of certain groups are factored in. So instead of looking at race (the outward color of someone’s skin) it is a better idea to look at their ancestry (where they are from on the genetic level). For example, Hillard’s research shows that Black Americans descended from enslaved people die from certain types of breast and prostate cancer at higher rates than their white fellows, but have lower rates of the brittle-bone disease osteoporosis. This is due to the presence of the variant of the TRPV6 gene, which aids the cells in taking up calcium. This variant gene can be traced back to the ancestors of some African Americans, who were Niger-Congo speaking West Africans. In that part of West Africa, the tsetse fly killed cattle and rendered dairy farming unsustainable, leaving those who lived there calcium deficient. As a result, the TRPV6 gene variant arose, allowing the bodies of the people there to better process what little calcium they consumed. Today this has become a problem, as their descendants' ability to consume sufficient amounts of calcium inadvertently encourages the growth of the breast and prostate. The increased growth of these organs results in the higher rates of certain breast and prostate cancers that we see today. However, as most research involving the TRPV6 gene has revolved around the European (“normal”) variant, doctors typically prescribe black and white Americans the same recommended daily intake of calcium (Saey, pg. 6).

Overcoming this issue is not as simple as including more people of different races into genetic studies. Hillard believes that the solution is to look at the very origin of the human race, in Africa. The people there are the most genetically diverse in the world; not even sequencing genomes from geographically dispersed people could capture as many variants. Ambriose Wonkam, a medical geneticist at the University of Cape Town in South Africa, is aiming to sequence the genomes of 3 million people in South Africa. She is the leader of H3Africa, also known as Human Heredity and Health in Africa. This organization has registered the genomes of 426 people (representing 50 groups) in Africa thus far, finding 3 million genomes that had yet to be discovered. The overarching goal of this effort is to create separate reference genomes and/or similar tools for groups with health problems that can be linked to genetic and localized geographic ancestry (Saey, pg. 8). 

Currently, measures are currently being taken to remove “race” as a category in genetic research, largely due to its complete lack of genetic basis. There is the hope that researchers will instead look to ethnicity and other environmental factors as the causes of certain diseases and mutations. Esteban Burchas, a physician and epidemiologist at the University of California, San Francisco, states that the lack of genetic diversity in GWAS today is “a social injustice, and a missed scientific opportunity.” (Stein, pg. 4). The more diverse genetic research becomes, the more beneficial it will be for all.

Works Cited

Ahmed Z, Zeeshan S, Mendhe D, Dong X. Human gene and disease associations for clinical-genomics and precision medicine research. Clin Transl Med. 2020 Jan;10(1):297-318. doi: 10.1002/ctm2.28. PMID: 32508008; PMCID: PMC7240856

Saey, Tina H. DNA databases are too white, so genetics doesn’t help everyone. How do we fix that? Science News. March 4, 2021. https://www.sciencenews.org/article/genetics-race-dna-databases-reference-genome-too-white

Stein, Vicky. Genetic research has a white bias, and it may be hurting everyone’s health. Public Broadcasting Service. March 22, 2019. https://www.pbs.org/newshour/science/genetic-research-has-a-white-bias-and-it-may-be-hurting-everyones-health