Shifting Roles, Shifting Research: Collaborative Genetic Studies with Indigenous Communities
By Sally Lehrman
Around the time the massive federal Human Genome Project began, members of the Havasupai Tribe gave permission for Arizona State University to collect blood samples in order to study the diabetes epidemic in their community. More than a decade later, the tribe learned that their samples had been shared with other research teams without their permission. Worse, they had then been used for inquiries the Havasupai considered abhorrent: on topics including migration and inbreeding. (1)
Even though indigenous peoples are highly valued as genetic research subjects, benefits to their own health have been elusive. The emphasis has usually been on whatever their genes might reveal to others—not what they might want to learn for themselves. And the harm to some participating communities has been severe: the undermining of tribal authority, misuse of biological specimens, and new forms of biological stigma layered on top of old stereotypes. With the Havasupai, American Society of Human Genetics President Roderick R. McInnes said in a speech, “All the outcomes were bad”. (2) The tribe felt exploited and stigmatized, and no insights about diabetes emerged. The incident called to mind an Alaska Native saying, McInnes told his colleagues: “Researchers are like mosquitoes; they suck your blood and leave”. (3)
Partnership and Accountability
But a new way of doing things is emerging, with Native American scientists playing a vital role in shaping a balance of power between the people traditionally under study and those who do the studying. Such an approach involves far more than staying in touch with research subjects and reporting results back to them, the generally accepted best practices for genetic research today. Instead, indigenous communities actively participate in the entire enterprise. Research questions emerge from the community, not from the lab, and interpretation reaches beyond an outsider’s perspective looking in, taking into account community knowledge and experience.
Dr. Rosalina “Rose” James“I can’t just do research and walk away,” says Dr. Rosalina “Rose” James (Lummi, Duwamish), director of the Indigenous Genomics Alliance and training initiatives of the Center for Genomics and Healthcare Equality at the University of Washington, as she describes the sense of responsibility she and other indigenous researchers bring to genetic research. Serving as more than cross-cultural guides, they contribute an extra level of ethical accountability, she says: to act transparently, to direct resources in a careful manner, and to be sure the entire effort is shaped to do more good than possible harm. “That’s the grander impact, the big picture I hope to see,” James says.
James is active in one highly regarded collaboration involving the University of Washington; the Center for Alaska Native Health Research at the University of Alaska, Fairbanks; the University of Montana; the Confederated Salish and Kootenai Tribes in Montana; the Yukon-Kuskokwim Health Corporation, a tribal organization that serves 58 tribes in southwestern Alaska; and the South Central Foundation, an Alaska Native–owned nonprofit health organization in Anchorage. (4)
In the collaboration that reaches across Native American and rural communities in Alaska, Montana, and Washington, geneticists are investigating possible variations in DNA that might influence a person’s response to drugs used in cancer, heart ailments, and kidney disease. University of Washington geneticist and bioethicist Dr. Wylie Burke, who co-directs the project with Dr. Kenneth Thummel, says it’s “imperative” that research involving native communities asks questions that matter to them. “I think there’s been a lot of research with tribal communities that’s very externally focused—‘let’s study the people because they’re different,’” she says. “That’s not even a useful frame. Rather, research should be focused on the needs of the community.” Burke expresses responsibility to recognize the harm that has been done and to think carefully about both the motives behind studies and their potential impact. “It’s been a learning curve for me, and I’m still on it,” she says.
The Alaska portion of the project builds upon nearly two decades of forging trust. In 1995, researchers who were studying alcoholism at the University of Alaska, Fairbanks realized that their workwas perpetuating alienation instead of supporting the tribes involved. They met with a small group of tribal leaders and asked how they could replace the norms of the scientific academy with an indigenous worldview. Their consultants advised a dramatic shift: instead of studying alcohol abuse among Native Alaskans, it made more sense to them to learn about the underpinnings of sobriety. They pressed the scientists further, pointing out the distinction between measures of resiliency and those of deficit. (5)
An Emphasis on Strengths
Framing research around strength, not deficit, was new to Dr. Bert Boyer, who now directs the University of Alaska’s Center for Alaska Dr. Bert Boyer Native Health Research. “It’s sort of flipping things on their head,” he remarks. Twelve years ago, Boyer expressed interest in studying the genetic interactions that might explain increasing rates of obesity and diabetes among the Yup’ik people. Guided by former director Dr. Gerald Mohatt to an emphasis on resilience, Boyer learned to expand his focus from “risk factors” to protective ones, too. (6) The Yup’ik diet, he discovered, is packed with anti-inflammatory omega-3 fatty acids. Elderly women, who live busy lives, have movement built right into their day. (7) “They had really healthy obese profiles,” Boyer says.
Boyer had a habit of sharing clinically actionable results from diabetes and blood pressure screening with study participants. But as he delved into the complex interactions between genes and environment factors in diabetes, he was not sure how to bring the results to the Yup’ik in an ethical manner. This concern was the catalyst that drew him into the collaboration with the University of Washington team. For the past two years, 10 participants from the 11 communities in which the center works have met three times a year. They sit in a circle, absorbing information and trying out ways to talk about the intertwining of genes, environment, and health. They are wrestling with the challenge of sharing ideas in a culturally meaningful manner, down to the figures used to represent results.
Working respectfully with indigenous communities fundamentally is about building a relationship over time, Boyer explains. And it has taken until now, he adds, for the relationship to truly feel like a community-based partnership. That’s because Yup’ik priorities he had not expected have begun to emerge. For example, at the Yup’ik people’s request, Boyer recently found himself working with experts at other universities to submit grant proposals for two studies outside his own field, on colorectal cancer and lower respiratory tract infection. “Now we’re trying to address community-initiated priorities,” Boyer says. “That feels like a very meaningful change.”
Addressing a Legacy of Harm
University of Washington’s Rose James is studying the process of collaboration in Alaska. “We’re learning how to be co-researchers,” James says. “How to not just listen, but to incorporate [community] views into interpretation.” The pace, language, and style of communication have emerged as deeply important. University scientists are developing respect for indigenous traditions of storytelling, for instance, as a means to share ideas and understand the world.
James, who studied pathology, found herself in demand as a bioethicist. She underlines the need for researchers to address the historical traumas the community has experienced and recognize science’s legacy of harm. “Have I felt mistrust myself as a Native person? I have, and it’s odd,” she says. She uses her own skepticism about science as a tool to help the centers in both Washington and Alaska think deeply about inclusion and accountability. Fundamentally, she says, she believes that research, if done right, “is necessary for positive change.”
Serving as Guide
Tribal official & TGen signingJill Peters (Navajo), who had been working in Washington, DC, as a policy specialist on the environment, energy, and American Indian affairs, also was pulled into genetics research to serve as a bridge between academic researchers and community members. When the Translational Genomics Research Institute, a nonprofit genomics research company in Arizona known as TGen, asked if she was interested in a job, she had reservations. But her father had died from cancer, and she realized that the kind of work that TGen wanted to do might help her better understand the reasons why. She decided, “Okay, I can be proactive about [genetic research], rather than being afraid of it,” she says.
Addressing Indigenous Concerns
Peters directs community outreach and legislative affairs for TGen, working closely with the Salt River Pima-Maricopa Indian Dr. Johanna DiStefanoCommunity on a cancer research project. The tribe had donated $5 million to help set up TGen in 2003 as part of a statewide biotechnology initiative. Press releases at the time announced a partnership aimed at studying diabetes, but after a while it became clear that this was not the tribe’s most pressing interest. There were plenty of studies in Native American communities about diabetes. Furthermore, there may have been suspicion stemming from the Havasupai lawsuit, which was filed at about the same time. TGen scientist Dr. Johanna DiStefano, who had originally hoped to get a diabetes study off the ground with the Salt River Pima-Maricopa community, asserted that TGen hoped “to be better, to be different, to engage the community, to co-collaborate.” However, the tribe’s medical staff proposed a project to explore cancer genetics instead.
DiStefano was disappointed but says she understands the tribe’s hesitations. For her diabetes research, she continued her work with the Gila River Indian Community as part of a collaboration that had begun there with diabetes researchers in the 1960s. Before taking another step with the Salt River Pima-Maricopa, Peters worked with them over a couple of years to develop a research contract. “We took time to get to know each other,” Peters says. TGen was acutely aware of the Havasupai case and the partners shared a concern about “genetics research that had gone very wrong.” Peters and the tribe worked together to clearly spell out key details about participant consent, data ownership, and management of samples. Before TGen began collecting samples five years ago, tribal elders came to the lab and conducted a blessing. “We try to keep things transparent in every way possible,” Peters asserts. Researchers meet with the community’s medical director and health staff on a regular basis, and the council about once a year, while the tribe engages in its own internal process of discussion and approval as needed. Questions about interpretation and dissemination have not yet been addressed, Peters says, because the research is still ongoing. What is clear, though, according to Peters, is that TGen is committed to following through.
Native Americans such as Peters and James who are working in academia and corporations say they hope to guide the process to be more sensitive, respectful, and productive. Several efforts also are under way to institutionalize change through guidelines, manuals, and decision trees. The Havasupai case may have served as a wake-up call across the nation, raising long-simmering issues and adding a sense of urgency for tribes to develop clear oversight and review mechanisms. Ron Whitener (Squaxin Island Tribe), executive director of the Native American Law Center at the University of Washington, recommends that tribes get involved in study design and process, establish community ownership of data, develop their own data repositories, and require re-consent for new uses.
Dr. Náníbaa' GarrisonFor their part, institutions such as TGen have decided to go forward more cautiously. Dr. Náníbaa' Garrison (Navajo), a bioethicist at Stanford University, has been studying the impact of the case. While she is not ready to describe her findings yet in any detail, she says, “I was surprised by some of the results.” She interviewed top researchers and ethical review board chairs from top institutions funded by the National Institutes of Health. They had a very different way of responding to the case than community reactions seemed to predict.
Garrison was trained as a geneticist, but realized that ethical issues interested her deeply and her scientific training could enhance her ability to evaluate them. She served as a contributing author for an online Genetics Resource Center for tribes developed by the National Congress of American Indians (NCAI). The site, which went live in September 2012, explains the science behind genetic research and addresses issues including decisions about participation, control of data, and use of DNA testing for tribal enrollment. Tools such as template consent form language, an interactive decision guide, and case studies help tribal leaders reflect on important questions.
Dr. Malia Villegas (Alutiiq/Sugpiaq), who directs the NCAI Policy Research Center, emphasizes that American Indian and Alaska Native people “have extensive scientific capacity and can assume a leadership role in current research efforts.” They can design their own investigations based on deep knowledge about what matters and what would benefit a community. Contemplating genetic research requires keeping in mind the development of knowledge itself, she says, and how and whether it is shared. At its heart, successful genetic research involving indigenous peoples must do one thing well, she says: “Work to benefit communities.”
About the Author
Sally Lehrman (www.bestwrit.com) covers science and society for a variety of publications and holds the Knight Ridder Chair for Journalism and the Public Interest at Santa Clara University. She is writing a book about health disparities, genes and race to be published by Oxford University Press.
1. Michelle M. Mello and Leslie E. Wolf, “The Havasupai Indian Tribe Case — Lessons for Research Involving Stored Biologic Samples,” New England Journal of Medicine 363, no. 3 (2010): 204–207; Paul Rubin, “Indian Givers,” Phoenix New Times, May 27, 2004, http://www.phoenixnewtimes.com/2004-05-27/news/indian-givers/8/.
2. R. R McInnes, “2010 Presidential Address: Culture: The Silent Language Geneticists Must Learn—Genetic Research with Indigenous Populations,” American Journal of Human Genetics 88, no. 3 (2011): 254.
4. Bert B. Boyer et al., “Ethical Issues in Developing Pharmacogenetic Research Partnerships American Indigenous Communities,” Clinical Pharmacology and Therapeutics 89, no. 3 (March 2011): 343–345, doi:10.1038/clpt.2010.303.
5. Gerald V Mohatt et al., “Unheard Alaska: Culturally Anchored Participatory Action Research on Sobriety with Alaska Natives,” American Journal of Community Psychology 33, no. 3–4 (June 2004): 263–273.
6. Gerarld V. Mohatt et al., “The Center for Alaska Native Health Research Study: a Community-based Participatory Research Study of Obesity and Chronic Disease-related Protective and Risk Factors,” International Journal of Circumpolar Health 66, no. 1 (January 2, 2007), doi:10.3402/ijch.v66i1.18219.