Injustice in Genomic Research

Updated: Jan 24


The Kalaupapa Peninsula lies hidden on the north coast of the island of Molokai, niched into a 2,000-foot sea cliff wall and surrounded by the tranquil Pacific Ocean. The massive ridge isolates Kalaupapa from the rest of Molokai, leaving the peninsula accessible only by plane, boat, or hiking. Despite being an ecological paradise with natural beauty and biodiversity, the Kalaupapa peninsula is shrouded by a dark history. Due to its isolated location, the colony served as a home for exiled residents suffering from Hansen’s disease, also known as leprosy. It attracted individuals like Father Damian, a Belgian missionary who devoted his life to comforting the lepers of Kalaupapa by giving hope, building faith, constructing homes, and treating them with his medical expertise. After devoting 11 years to the colony, he met his demise in 1889 after contracting leprosy. Yet his legacy lives on. To this day, he is still remembered as a man who cared for the victims of the disease and advocated for the health of native Hawaiians [1]. His relentless work raised many questions, including why native Hawaiians were more susceptible to Hansen’s disease than other Americans. The answer lies in the deep connection between the unique genetic ancestry of the indigenous people and health.


Integration of genomic research in clinical settings has gained increasing prevalence, yet indigenous populations seem to remain starkly underrepresented compared to other populations. Approximately 96% of all genomic studies investigate individuals of European descent, leaving the rest of the world virtually unrepresented in genetics research [2]. Less than 1% of genetics research studies are based on people of indigenous descent. This systematic lack of inclusion is largely due to the historic lack of trust between Western scientists and indigenous communities around the world. Scientists have used indigenous samples without their consent, disregarded their customs and beliefs regarding the dead, and refused to return lab samples and deceased individuals. Consequently, indigenous communities have restricted their bodies for genetic testing, even though the industry has boomed with increasing relevance in the healthcare field within recent years. One particularly infamous story involved researchers from Arizona State University who obtained DNA samples from the Havasupai Tribe in the 1990s [3]. The DNA samples were collected to study diabetes within this population. However, the samples were used to study schizophrenia, the tribe’s origin, and the degree of inbreeding, all of which were done without the tribe’s consent [4].


Stories like these continue to discourage these communities from participating in genetics research. Genomic research connects common genetic variations to specific diseases, allowing scientists to develop treatments and diagnosis. This is why indigenous communities such as the Hawaiian natives die a decade earlier than non-native counterparts, despite Hawaii having the highest life expectancy among US states [5]. If nothing is done, indigenous people cannot receive the same quality of healthcare, and the gap in health disparities will only continue to widen.


So, how do we ensure that the communities in greatest need of genomic sequencing are not the last to benefit? Building trust between researchers and the communities they are targeting might be the first step. Subjects must be fully informed about how DNA samples will be used, and indigenous ethical frameworks must be established based on a communities' traditions and norms. In addition, initiatives must be launched to include more indigenous practitioners of genomics and medicine.


Furthermore, it is critical that the outcomes of these initiatives benefit the communities from which the DNA was collected. Treatments based on genetic sampling often cannot be afforded and indigenous populations also do not appear to benefit from their own DNA research due to the commodification of DNA. In such cases, it is critical to build community trust and encourage participation, as well as work to ensure that genomic research and clinical care are distributed equitably [6]. Finally, native populations must be partners in genetics research rather than subjects. Only by becoming acquainted with the culture and norms of the population being studied will the research community be able to gain the trust of native communities. Scientists, like Father Damian, must immerse themselves in the culture and advocate for indigenous populations, and only then will the advances in genomic research be distributed equitably and equally.


References:

  1. Modlin R. L. (2007). The colony The harrowing true story of the exiles of Molokai. Journal of Clinical Investigation, 117(1), 3–4. https://doi.org/10.1172/JCI30808

  2. Life expectancy by state 2021. (n.d.). Retrieved December 1, 2021, from https://worldpopulationreview.com/state-rankings/life-expectancy-by-state.

  3. Diekema, D. S. (n.d.). Ethical Issues in Genetics Research. Pediatric Ethicscope. https://doi.org/https://pediatricethicscope.org/article/ethical-issues-in-genetics-research/

  4. To overcome decades of mistrust, a workshop aims to train indigenous researchers to be their own genome experts. Science. (n.d.). Retrieved November 23, 2021, from https://www.science.org/content/article/overcome-deca des-mistrust-workshop-aims-train-indigenous-researchers-be-their-own.

  5. Garrison N. A. (2013). Genomic Justice for Native Americans: Impact of the Havasupai Case on Genetic Research. Science, technology & human values, 38(2), 201–223. https://doi.org/10.1177/0162243912470009

  6. Caron, N. R., Chongo, M., Hudson, M., Arbour, L., Wasserman, W. W., Robertson, S., Correard, S., & Wilcox, P. (2020). Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts. Frontiers in public health, 8, 111. https://doi.org/10.3389/fpubh.2020.00111


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