Would you like to benefit from the massive, game-changing, groundbreaking genomic revolution, already well underway? If you’re white, you’re in luck. If you’re not, too bad—it wasn’t built for you.
For years, genetic research has mostly focused on people of European descent. This problem is well-known: Scientists and the media have been lamenting it for over a decade. Despite this, the inequality has actually worsened. In 2017, the percentage of participants of European descent in genome-wide association studies (GWAS), which look for genetic variants associated with complex traits such as disease risk, stood at a whopping 90 percent, according to the GWAS Diversity Monitor, an online dashboard maintained by researchers at the University of Oxford in the UK. As of this January, the percentage of European descendants had swelled to almost 96 percent. Hispanic or Latin American populations made up 0.23 percent; African representation was just 0.09 percent.
But now, scientists are coming up with clear, defined ways to redress the imbalance. In a paper published in February in Nature Medicine, six scientists map out the steps needed to fix this glaring bias. The authors were motivated by their own experiences conducting research in underrepresented populations of their own heritage, including communities in Africa and South Asia. “It is very painful, and very, very frustrating,” says Segun Fatumo, the lead author and a geneticist from Nigeria.
Fatumo recalls going to his doctor while he was doing his postdoctoral studies in the UK and being offered a diabetes test. A standard in the UK is the HbA1c test, but recent research (on which Fatumo collaborated) has found that it returns deceptively high results for people of African descent. While his doctor puzzled over the unclear results, Fatumo had to explain that the test can incorrectly diagnose diabetes in some African people due to a genetic variant they carry. “If you are using HbA1c to test for my diabetes, it should be clear that it’s not an appropriate tool for me,” he told his doctor.
Science is poorer for leaving out large swathes of the world’s population. Humankind’s origins are long thought to be in Africa, meaning the genetic diversity of its people is mind-bogglingly expansive. The genetic makeup of a Somalian might be considerably different from a Gambian. Not only would expanding African representation create better clinical applications, scientists could also stand to unearth insights into human evolution, and how it affects physiology and disease today. This means a white bias in genetic research doesn’t just hurt non-white people—“it’s not good for anyone,” says Fatumo.
This European domination, unsurprisingly, also deepens existing health inequalities. For example, one study from 2016 found that a genotype-guided dosing schedule for a blood thinning drug led to over-medicating among African Americans, as it failed to take into account certain genetic variants they carry, causing an increased risk of uncontrolled bleeding. Similarly, cystic fibrosis, a genetic disorder, was previously thought to only affect white people, which meant that it wasn’t studied in other populations. Later, it was found to occur in people of non-European descent, but the genetic mutations that cause the disease differ, meaning it often went undiagnosed.
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The first step to fixing the lack of diversity, the researchers argue in their paper, is to better engage underrepresented communities. Western researchers have a long history of exploiting people in low- and middle-income countries for their own scientific gain: They drop in, grab the data, and run back to analyze it in labs in Europe or the United States—a practice known as “parachute science.” Fatumo also points to the problem of “ethics dumping”—when researchers from countries with tough regulatory policies travel to places where regulation is less developed, and carry out ethically-questionable research there.
Some of these communities have already begun to fight back against it. The San people of southern Africa, the world’s oldest population of humans, were long poked and prodded by scientists, who mined them for research with little benefit for the people themselves. In 2017, the South African San Council mapped out a code of ethics that stated that if scientists wanted to undertake research with the San people, they would have to observe the San values of respect, honesty, justice, and care. The problem, dubbed “research fatigue,” is not only experienced by Indigenous communities, but also among small groups like rural residents, refugees, people with rare diseases, and members of the trans community, who are often asked to participate in studies that that can be exhausting, repetitive, insensitive, or that don’t produce any clear benefits. A 2020 Bioethics paper argued for addressing research fatigue as part of a study’s approval process.
Another part of the problem is that genetic research is dominated by scientists in high-income countries, and those leading the research are overwhelmingly white: In the US for instance, minorities made up just under 13 percent of tenure-track or tenured faculty in 2018. A 2019 report from the UK found that ethnic minority researchers receive less funding than their white counterparts. It can be difficult to get international studies funded, or it’s simply easier to do them at home; one of the common excuses Fatumo hears is that a study should be done in a developed country—because doing it in Africa would be more expensive. “I don't think this is appropriate,” he says.
As a second step, Fatumo’s paper calls for powerful funding bodies—those like the Gates Foundation, US National Institutes of Health, or the Wellcome Trust—to prioritize researchers doing work in underrepresented populations, especially if the researchers are members of those populations themselves. “It would be unfair to many of them to compete with scientists from the UK and other populations,” says Fatumo. Plus, locals are likely better placed to do the research in the first place, having intimate knowledge of these communities, as well as their trust.
Perhaps the most successful example of this kind of initiative is the Human Heredity and Health in Africa consortium, or H3Africa, established by the NIH and the Wellcome Trust in 2012, which pushes for African scientists to perform genetic research within the continent. Fatumo credits H3Africa for his academic success, which enabled him to continue his training in the UK. Today, he is a computational geneticist with the Medical Research Council/Uganda Virus Research Institute and the London School of Hygiene and Tropical Medicine. He was involved with the biggest genomic study of continental Africans that has ever been published. (However, Fatumo is quick to point out that this amounted to just 14,000 participants from a continent of 1.2 billion people—the UK Biobank has 500,000 participants in a country of 67 million.)
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Other scientists are striving to rectify the lack of representation on a more local level. In East London, an initiative called Genes & Health is working to analyze the genes of Bangladeshi and Pakistani people, the biggest ethnic minority groups in East London. Their goal is to recruit 100,000 people and they’re almost at the halfway point. They recruit most of their volunteers in either primary care settings or places like mosques and shopping centers, and many of the community researchers are also of Bangladeshi or Pakistani ethnicity, which means, “as soon as somebody is asked to volunteer and join the study, there is an immediate connection and trust, because they are being invited to the study by people they can identify with,” says Sarah Finer, the deputy lead for the project, and a clinical senior lecturer in diabetes at Queen Mary University of London. Similarly, Future Genetics, a company founded and self-funded by scientist Mohammed Kamran and based in the West Midlands in England, is aiming to recruit 200,000 diverse patients, particularly Black and South Asian people, with the ultimate goal of reevaluating the accuracy of genetic risk scores for different diseases in ethnic minorities.
Janitza Montalvo-Ortiz, an assistant professor of psychiatry at Yale who hails from Puerto Rico, entered the field in the mid-2010s into the so-called genomic revolution, but quickly realized that Puerto Ricans and Latin Americans weren’t part of it. “I thought, ‘Since we're not represented in the studies, what does that mean for people like us?’” she asks. The colonization of the Americas, which mixed people of Native American, European, and African ancestry, means that today people’s genomes may represent more than one ancestral population. Genetic research has routinely excluded these populations, due to claims that this admixture makes analysis too tricky and causes “genetic noise.” In 2019, Montalvo-Ortiz co-founded the Latin American Genomics Consortium, which specifically aims to increase genetic research related to psychiatry in Latin American populations. Today, they have over 100 active members who represent eight different countries, plus Puerto Rico and the rest of the US.
Still, while genetic research is blossoming in parts of the world like Latin America and Africa, “you cannot compare to what you see in the UK or other places,” says Fatumo. “If we can build more capacity, people will be in a position to do fantastic research.”
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