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The Future of Genomic Justice for Marginalized Communities — Can Genetic Research Recover from Its Murky Past?

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Between 1990 and 1994, 400 members of the Havasupai Indigenous tribe donated blood samples to researchers at the Arizona State University (ASU) Diabetes Project. The tribe’s aim was to understand why more than half of their population has type 2 diabetes. However, a decade later, participants discovered that their DNA had been used in several unrelated genetic studies, many of which dove into topics that directly contradicted the Havasupai culture. One of the studies looked for biomarkers for schizophrenia, a condition that is highly stigmatized and taboo for the Havasupai. In 2004, tribal members filed a lawsuit against the Arizona Board of Regents and ASU, and an out of court settlement entitled them to monetary compensation and return of the DNA samples. Their lawsuit was a moment of reckoning for the biomedical community — the Havasupai fought against post-Colonial exploitation, and won. But how has this case influenced the bioethics of genomic research in the last 20 years, and how do researchers guarantee genomic justice today?

A Case of Informed Consent

One of the key aspects of the Havasupai case was the lack of informed consent. The ASU researchers obtained oral consent from the tribal members to study the high diabetes rates. Then, tribal members were asked to sign informed consent forms written in English. The form gave researchers permission to use the samples for genetic studies that included “behavioral/medical problems.” Since English is the second language for many Havasupai, it was not understood that the form would grant consent for broader genetic research. When the initial studies failed to find a genetic link to type 2 diabetes, the researchers obtained institutional review board (IRB) approval to study a wide array of other conditions. The tribe alleged that the researchers failed to inform them of any of the other studies, which included published work on biomarkers of schizophrenia, inbreeding, migration patterns and alcoholism. The tribe also alleged that the researchers illegally gained access to its medical records from its community clinic.

Furthermore, the tribe was under the impression that its samples would be returned at the end of the study — as part of the tribe’s religious belief, the entire body (including DNA samples) is sacred. When the samples were not returned, the Havasupai felt the researchers had imposed on their personal, religious and cultural rights. This case provided a clear example of the importance of being culturally cognizant regarding vulnerable communities, which often do not have appropriate representation in scientific institutions.

Impact on the American Indigenous Community

This historic case had the impact of seeding deep-rooted distrust between the tribe and ASU. After the case, the tribe banned ASU researchers from entering its lands and conducting any form of research. Earlier, in 2002, based on independent incidents, the Navajo Nation passed a moratorium on genetic research within its boundaries. The Havasupai case resulted in an even more strained relationship between Indigenous groups and biomedical researchers, highlighting both the history and continued exploitation of Indigenous peoples in scientific research. The Navajo moratorium remains in place, meaning the largest Indigenous group in the U.S. is excluded from genomic research. Genetics research can empower communities by providing personalized medicine, but Indigenous people risk not benefiting from these advances.

Impact on Genomic Research and the Future of Genomic Justice

Because the case was settled out of court, it did not set legal precedent regarding the bioethics of conducting research on vulnerable communities, the specifications of informed consent or the ownership of genetic material. However, the case received media attention and brought to light scientific exploitation not only to the scientific community but also to the public. In a 2012 study, interviewed IRB chairs stated that although the case prompted them to think more deeply about culturally sensitive informed consent and research, they believed current IRB protocols do enough to safeguard vulnerable populations. Contrary to their perception, this has not been enough to gain the trust of Indigenous communities, as seen by their continued withdrawal from genomic research.

In 2016, a consortium of scientists defined the FAIR (Findable, Accessible, Interoperable and Reusable) data principles. In adopting the FAIR principles, national funding organizations such as the National Institutes of Health and scientific journals require that their funded projects and publications make the data publicly available for others to view and re-analyze. Although FAIR data principles aim to increase transparency and innovation, they stand at odds with the data sovereignty of Indigenous peoples, who lose control of by whom and how data generated from their communities is used.

To address part of this complex issue, the Indigenous data sovereignty movement has emerged. Prominent voices in the movement include the Global Indigenous Data Alliance, which has drafted the CARE (Collective Benefit, Authority to Control, Responsibility, Ethics) principles for Indigenous data governance. The CARE principles were developed to be in line with laws created by sovereign Indigenous groups and to breach the gap between FAIR data sharing and respecting the autonomy of Indigenous peoples. The principles emphasize that genetic studies using Indigenous data have the responsibility to ensure that the outcomes of and value created from the study benefit the community. Importantly, it also explicitly directs that Indigenous people’s rights and well-being be the primary concerns at all stages of data management and sharing, which includes being culturally informed about tribal practices.

Indigenous leaders are asking scientists to follow their lead, and the future of equitable genetic research depends on if we listen. As a scientist in training who is involved in producing data from samples derived from people living with HIV (human immunodeficiency virus), I am now even more cognizant of the value and power of the data I produce. I feel the responsibility to ethically discuss and share the data I am producing from the participants in my studies, and to ensure that my work is not harming them or creating further prejudice. Although the biomedical field has a long road to build an ethical relationship with marginalized groups, we can start by not only taking personal accountability of our work, but also engaging in the communities that we study and serve.


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