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Experts Look at Issues Surrounding Genetic Research on Indigenous Populations

By Andrea Anderson

COLD SPRING HARBOR, NY (GenomeWeb News) – During a panel discussion at the Biology of Genomes meeting here yesterday, a group of genetics, law, and bioethics experts from centers in the US, Canada, and South Africa discussed some issues and challenges for those doing genetic and genomic studies in indigenous populations.

Researchers have long been interested in exploring genetic patterns in indigenous groups, many of which belong to small, relatively isolated populations. But individuals from indigenous communities are often hesitant to participate in such studies, citing concerns about possible exploitation or stigmatization of their population based on study findings.

That attitude stems, at least in part, from situations — including the oft-cited case involving Arizona's Havasupai Tribe — in which samples collected for one research purpose were subsequently used for other types of research without participant consent, the panelists explained.

Mervyn Tano, head of the International Institute for Indigenous Research Management, a Denver-based law and policy research center, elaborated on some other reasons for apprehension about genetic research amongst indigenous groups as well. Among them: perceptions of genetic research as a form of conquest hearkening back to historical colonization events, as well as concerns about how interpretations of genetic data might affect a population socially and politically.

Disinclination to participate in genetic studies may also reflect a lack of perceived benefit for the population being sampled, Ronald Whitener, assistant director of the University of Washington School of Law's Native American Law Center, noted.

He offered insights from surveys done in individuals from the Squaxin Island Tribe from south Puget Sound in Washington, which suggest that individuals in that community are about as likely to support genetic research as behavioral research.

Nevertheless, Whitener explained, willingness to participate in such research varied depending on who would be overseeing the research. In addition, survey results suggest there was far more support for research that focused on conditions affecting members of the community, such as type 2 diabetes.

Indeed, some argue that there is an ethical imperative to include indigenous populations in research that could eventually lead to improved health disease treatments, particularly since many indigenous communities are facing health disparities and disproportionate chronic and infectious disease rates.

Among their recommendations for balancing research with indigenous community concerns, both Tano and Whitener pointed to a need for community engagement, participation in study design, control over samples used for research, and a long-term strategy of capacity building that spurs research involvement by community members.

Meanwhile, University of Witwatersrand human geneticist Himla Soodyall, who is currently participating in the National Genographic Project, offered perspectives from her extensive work with indigenous populations in sub-Saharan African. For her part, she focused on the importance of collaborating with local individuals and understanding ethical and informed consent requirements from the community level up.

She also highlighted the benefits of educating participants about the nature and purpose of research prior to sampling, using approaches that are most appropriate for each community, coming up with community initiatives that give participants ownership of the research process, and maintaining an ongoing dialogue with populations being sampled.

Such interactive and collaborative approaches are more formally articulated in some other research contexts, the panelists explained.

For instance, University of British Columbia clinical geneticist Laura Arbour described guidelines for Canadian Institutes of Health Research-funded work involving First Nations, Metis, and Inuit groups in Canada. Under CIHR guidelines, she explained, participants essentially retain ownership of their samples, with researchers having access to "DNA on loan" for the specific purposes outlined in each study.

Her team has been doing research in a Gitxsan First Nation community in northern British Columbia with an unusually high rate of long QT syndrome — a condition that ups the risk of heart problems, particularly arrhythmia, and sudden death.

A genetic study involving more than 300 individuals from this community uncovered a previously uncharacterized mutation in the voltage-gated potassium channel gene KCNQ1 in this community, while follow-up studies have since shown that the mutation can contribute to long QT syndrome pathogenesis. Prior to undertaking the genetic study, Arbour noted, that community was given the option of either participating in a research study or receiving focused community care.