The Akimel O’odham (Pima), a group of Native Americans from Arizona, have one of the highest rates of type 2 diabetes in the world. More than half the adults are affected, and while diet and lifestyle factors certainly contribute, scientists have long suspected that the community carries genetic variants that also affect their risk.
Since 1965, the tribe have been intensely studied by researchers from the National Institutes of Health. This work has been a boon to the outside world: It was instrumental in clarifying the heritable nature of type 2 diabetes, and its connection with obesity. But for most of that time, the Akimel O’odham have been passive participants in the research of their lives.
The NIH had promised to fund research and develop services that would improve the health of the community. But preventative studies only started in the 1990s, some three decades in, and health programs were small and delivered through the existing Indian Health Service. Meanwhile, a significant amount of money went into studying type 1 diabetes—a disease that mostly affects people of European descent.
Disgruntled, the community withdrew from their partnership with the NIH in 2003, and instead signed a $5 million agreement with a non-profit organization called the Translational Genomics Research Institute (TGen). The team have since published at least eight papers highlighting unique genetic variants that are specifically associated with type 2 diabetes in the Akimel O’odham; they are also looking other conditions that affect the tribe like kidney cancer.
Speaking at the 2015 meeting of the American Society for Human Genetics (ASHG), Krystal Tsosie from Vanderbilt University said this case exemplified how indigenous groups are taking charge of their fates in the world of modern genetics. “The Tribe approached the researchers, not vice versa,” she said. “The researchers are more like consultants.”
The Akimel O’odham dictated the goals of the project right from the start and retained control over their own samples, effectively loaning them to TGen, who acted as temporary stewards. TGen, meanwhile, agreed not to do any studies beyond the bounds of their agreement, or to distribute samples or publish data without the community’s consent. A tribal elder even blessed the TGen laboratory and its staff.
This case stands in stark contrast to the most infamous collision between genetic research and Native American culture. In the 1990s, scientists from Arizona State University collected samples from the Havasupai tribe to study the genetics of diabetes but, without their knowledge, also used those samples to study schizophrenia, inbreeding, and migration patterns. When the Havasupai found out, they successfully sued the university for $700,000 and banned its researchers from their land.
This case, and others, have created an atmosphere of distrust, as Rose Eveleth covered for The Atlantic earlier this year. This pall might also help to explain the relative absence of indigenous groups in genetics research. “Why is that?” asked Keolu Fox, from the University of Washington School of Medicine. “Were we invited to the party and said, ‘No, thank you,’ or were we not invited at all? It’s a combination.”
Young geneticists like Fox (a native Hawaiian) and Tsosie (from the Navajo Nation) are now looking to move past the lingering shadow of the Havasapui controversy, and take positive steps forward. Speaking at the ASHG conference, in a session called “Engaging Indigenous Peoples in Genetics,” they called for more community-based participatory research (CBPR)—a model exemplified by the partnership between the Akimel O’odham and Tgen.
Rather than the usual approach, in which researchers helicopter in, do their thing, and tell their participants what they found under the rubric of “engagement,” CBPR requires communities to actively and equally participate in all phases of the research, from planning to publication. They become genuine scientific partners, not guinea pigs.
This is hard work. At the same ASHG session, Kate West from the University of Washington spoke about her work with Yupik Eskimos from Alaska. That involved: repeated flights and boat trips to get to the communities; a lot of time spent making contacts, attending local council meetings, and occasionally eating seal; and much last-minute rescheduling. “Research takes a back seat to community matters,” she said.
This time-consuming approach sits uneasily with the publish-or-perish atmosphere that drives modern science. But it’s necessary, argued the ASHG panellists. “Genomics is the future of medicine but if we don’t start to include native populations who already face large health disparities, those disparities will widen,” said Fox. “We need to empower indigenous communities by letting them be partners at every step.”
That will become easier as technology improves, he thinks. With palm-sized DNA sequencers like the MinION, scientists will be able to do research within indigenous communities, rather than simply taking samples and disappearing with them. “Performing science in an indigenous space is important for reducing distrust by de-black-boxing genomic technologies,” said Fox.
It should also help to train more indigenous geneticists. (There are currently seven, Fox and Tsosie among them.) “If you really want to engage a community, it has to be with members of the community doing the actual science,” said Fox. He quoted Beverly Becenti-Pigman, the chair of the Navajo Health and Human Resources Review Board: “What we need are more expert Indians and less Indian experts.”
Currently, in the U.S., fewer than one in 500 Ph.D.s in the biological sciences go to students from indigenous groups. But organisations like the Society for Advancement of Chicanos/Hispanics and Native Americans in the Sciences (SACNAS) are working to change that. And the Summer Internship for Native Americans in Genomics (SING), which trains young indigenous scientists in both laboratory skills and biomedical ethics, is now in its fourth year.
“When the human genome was sequenced, I was in high school,” says Fox. “We’re the first crop of people who walk between the worlds of indigeneity and westernized science, and who have received an elite education. We’re indigenizing genomics. Our presence alone is doing that.”
* This article originally stated that the SING workshop was run by SACNAS, and it is not. We regret the error.