Bringing Indigenous Researchers to the Forefront of Genomics

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By Katrina Claw, PhD and Náníbaa’ Garrison, PhD

1272 It’s lambing season on the reservation again. Twin lambs were born to a dark-grey ewe; one lamb was mostly black and the other was brown with white spots. Earlier this spring, a white lamb was born to a brown ewe. What makes them different? The ram was the same father of all three lambs––a mean, big, light-grey ram. In any case, the weavers will be pleased with the introduction of black and brown lambs, as the darker wool colors will allow them to create colorful patterns to weave into their rugs.

For generations, our ancestors among the Navajos and other Indigenous people in the Southwest have bred the Churro sheep for their wool while practicing other forms of breeding, such as selecting for strong and drought-tolerant corn to nourish their families. The processes of breeding and selection are a part of the traditional knowledge passed down from parent to child, but they are also examples of how we have used genomic information for centuries. Now with the incredible advances in the genomics era, it is becoming increasingly important to have indigenous scientists and ethicists at the forefront of genomics who can bring their cultural perspectives and values to the sciences and also translate the science back to their communities.

Why do we need indigenous researchers in genomics?

Genomics is the study of the function, structure, and evolution of the complete set of DNA of an organism, including genes. Unlike genetics or molecular biology where single-gene studies are typical, genomics examines all genes and their interaction with each other, and the environment and its relation to diseases. In the sheep, the combination of recessive and dominant alleles from a handful of genes dictates the color pattern of their offspring. In humans, similar combinations of alleles dictate skin and hair color, but when you begin to look at the whole genome, a much more complicated picture emerges that makes each of us unique and complex. Advances in DNA sequencing technology have allowed fast, reliable, and cheap sequencing costs, and this has led to many sequencing projects that sequence, assemble, and map the genomes of living things such as plants, bacteria, and even us, humans. Genomic data can be used to conduct genome-wide association studies (GWAS), and over the past decade, hundreds of GWAS studies have been conducted to identify common genetic variants that are associated with particular diseases (i.e., Type 2 diabetes and cancer), some of which are major health disparities in Native American communities.

What is most shocking is that 96% of all genetic association studies in humans were conducted in populations of European ancestry (Bustamante et al., 2011), while Native Americans and Indigenous people were largely left out of the picture. The 1000 Genomes Project sequenced 1,092 human genomes representing major populations around the world––among which, Indigenous people from the Americas are not represented (The 1000 Genomes Project Consortium, 2012). Similarly, Indigenous peoples in the United States are not included in the HapMap projects or the Human Genome Diversity Project, mainly because Indigenous peoples did not see any potential benefit to participating (International HapMap Project, Human Genome Diversity Project). Whole genome and exome (coding regions of DNA) sequencing is now being used to discover the exact locations of genetic variants that cause rare diseases within families, which may be important for discovering the genetic basis of rare, inherited diseases such as Xeroderma Pigmentosa (XP), a fatal genetic disease that causes skin cancer from any exposure to sunlight, that have high incidence in some Native communities. In addition, the genome sequencing of the ancient remains of a 12,600-year-old boy in Montana (to uncover Native America roots in the Americas) has stirred the ongoing ethical debate over the use of skeletal remains (Rasmussen et al., 2014), and this epitomizes the importance of having trained Indigenous researchers with knowledge of science and ethics. Despite the excitement of genomic advances and the potential benefits to human health, these advances mostly benefit European-descent populations, leaving Indigenous groups largely excluded. How do we bring Indigenous researchers to the table?

A New Generation of Cultural Perspectives

Indigenous scientists and ethicists trained in genomics represent a new generation of professionals who can bring their cultural perspectives to the sciences. Indigenous researchers are uniquely situated to bridge the connections between their communities and the research enterprise. They have the ability to more directly tailor genetic research studies to address the needs of their communities, and to examine current policies and ethical implications of genomics for Indigenous communities. The motivation for many Native students to pursue higher education is to bring their knowledge back to the community in a role that will benefit their families and communities in a positive way. Yet, there remains a low graduation rate of Native Americans from doctoral programs, including PhD programs. Native Americans represent 2.2 percent of the population but only 0.8 percent of those are doctoral degree holders (Oguntoyinbo, 2014). While a variety of disadvantages may limit the numbers of Native Americans attaining PhD degrees, many students are not exposed to scientific research experiences in genetics/genomics early in their undergraduate studies; and also, there may be confusion of how basic research and genomics can directly benefit their communities.

The Native American researcher’s perspective has the ability to diversify science and bring new ideas to the table. Those trained in genomics/ethics-related research are especially important because they can understand the multiple sides of research with Native communities, and can facilitate a dialogue between researchers/universities and Native communities. If an Indigenous scientist had been on the 1000 Genomes Project board, would Native Americans have been so easily excluded from the research? The relevance and importance of health research can be conveyed to Native populations by such researchers, and discussions of the ethical, legal, and social implications (ELSI) of genomic research can become a part of the conversation. Even if the majority of Native American tribes decide not to pursue genetic research, we still need to be a part of the conversation to help shape the scientific direction and create avenues to bring tribes on board should they decide to participate or create their own research agendas.

Indigenous scientists can foster the research capacity of a community, and health research is a major way to influence governmental policies and budgets. Indigenous scientists have more incentive to prioritize their cultural perspectives, and thus can more directly address needs of their communities pertaining to heath disparities and education opportunities. Communities stand to benefit much by having a pool of accessible role models, creating their own research agendas, and involving the community in research. The results from research studies can potentially be used to guide future research policies and health promotion.

How do we get more indigenous researchers into genomics?

Early on, the need to train the next generation of Native American geneticists and Indigenous thinkers was recognized, and programs were created to provide Indigenous students with opportunities to develop research skills and mentorship in genomics to foster their own research ideas. Many Native students growing up on reservations do not have exposure to research and are not familiar with the many career paths that are available in science. The rapidly advancing field of genomics won’t wait for Indigenous students to catch up; we need to be a part of the revolution now.

Increasing Genetic Literacy for Native Communities

The Genetic Education for Native Americans (GENA) modules pioneered efforts to increase the genetic literacy for Native communities (Burhansstipanov et al., 2001; Dignan et al., 2005), with the goal “to provide culturally sensitive genetics instruction [in research, testing, and careers] to Native Americans to increase their awareness of genetics as a topic.”

1282 Naomi J. Young, MDNaomi J. Young, MD, a family medicine resident from Sawmill, AZ, who is at the University of Arizona, views her work in medicine and genomics through the lens of Sa’ah Naaghéii Bik’eh Hózhóón, a Navajo worldview where everything is connected. Dr. Young became interested in research on genetics and ethics through participation in the GENA program where she was first a trainee, then taught several modules on genetics at national conferences and in several communities throughout Alaska. Through this work, she relates cellular interactions in the body with familial relationships and the clan system. That experience has followed her into the clinical setting where, when treating pediatric patients, sometimes Dr. Young and her team will “consult out to medical geneticists to try to figure out what are the best labs to get in order to diagnose this kiddo,” and having some knowledge of genetics has proved to be of benefit to the patient. Moving forward, Dr. Young states, “I feel that in my future career, research will be a part of my practice, and public health will be at the front of my practice.”

Training Young Indigenous Scholars in Genomics

The Summer Internship for Native Americans in Genomics (SING) furthered this effort to train young Indigenous scholars in genomics and other intersecting fields. SING is a one-week workshop where students and tribal community members learn about genomics, and discuss the advantages and disadvantages of using genomics as a tool for Native American communities. This workshop was able to bring together Native and non-Native researchers, Indigenous scholars, and community members who were interested in genomics.

1274 Mr. Joseph YrachetaA participant in SING, Joseph Yracheta, of the P'urhe'pecha and Raramuri' people with an MS in pharmaceutics, said that SING revealed to him with the extreme “communication problems [that exist] between Native laypersons and scientists” and how “very few Native scientists are being courted, encouraged, and created.”

Furthermore, Mr. Yracheta explained that “every thread that is pulled in the community fabric tugs greatly at every other thread … that genomic research should be done much more carefully. This is not to say that genomic research should not be done, but it should be done with tribal consent and increased understanding with strategic capitalization on the value of that research for remuneration and recompense in many other areas of tribal existences.”

SING brought together individuals from diverse communities and provided an environment where they could discuss various issues related to genomics. The 2015 SING will be the fourth year of this workshop, and is open to Native community college, undergraduate, and graduate students, and individuals who want to continue their education in the sciences.

A Growing National Presence

1275 Keolu FoxInterest in genomics is also evident on a national level. This year, the National Congress of American Indians, the National Human Genome Research Institute, and the National Museum of the American Indian organized a symposium, “A Spectrum of Perspectives: Native Peoples and Genetic Research,” to highlight indigenous perspectives on genomics, its potential impacts across communities, and allowed for multiple ethical views to emerge about research. Keolu Fox, a Native Hawaiian and PhD candidate in genome sciences at the University of Washington, studies DNA sequencing technology development, and participated in a panel that highlighted the “Next-generation Native researchers.”

Keolu voiced concerns that many have, which is that there is a vast “underrepresentation of minority groups (i.e., Native Hawaiians and Native Americans) [in] genetics and genome sequencing.” He advocates that “[genomics] is the future of medicine and if we don’t participate, we’re going to be the last to benefit––and the gap in health disparities is going to continue to widen. We need to participate at all levels, including training youngsters, writing grants and papers, giving presentations, and learning everything that it takes to be a scientist in the Western world. And let our indigenous and cultural knowledge inform the questions we want to ask.”

The open forum symposium demonstrated that political, scientific, and tribal communities were interested in genomics. Further, there are still serious issues in genomics that directly impact Native communities that need to be discussed––such as how to return results in a culturally relevant manner, how to deal with the push to put all data into publicly available venues, and addressing the ethical issues around genomic sequencing of ancient remains. Upon reflection, Keolu found that the day of discussions were “extremely encouraging and [made him] want to keep working [in genomics].”

Deepening the Community Impact

Increasing the numbers of indigenous scientists, ethicists, and doctors who integrate genomics into their research or practice can have profound community impact. Programs such as GENA and SING have been successful models for training and retaining Indigenous researchers in genomics. Community conversations and publicly available symposia, like that hosted by NCAI and NHGRI, can further the discussion in our communities, our universities, and our governments. As Indigenous communities move forward with using tools like genomics to address health disparities, Indigenous researchers will be a powerful combination of traditional knowledge and scientific training. Our traditions––including sheep breeding and corn selection––and culture have influenced our genomics, and need to be a part of the picture.

Note: The authors use the terms “Native” and “Indigenous” interchangeably throughout the article, but recognize the many Indigenous groups from around the world.

About the Authors

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Katrina Claw, PhD (Navajo) is a postdoctoral fellow at the University of Washington working with the Northwest-Alaska Pharmacogenomics Research Network and the Center for the Genomics and Healthcare Equity. She received a PhD in genome sciences at the University of Washington.

 

 

 

 

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Náníbaa’ Garrison, PhD (Navajo) is an assistant professor at Vanderbilt University in the Center for Biomedical Ethics and Society. Before she turned to bioethics, Dr. Garrison earned a PhD in genetics at Stanford University.

 

 

 

 

Photo Captions

1. Sheep on the Navajo reservation.

2. Dr. Naomi J. Young, a family medicine resident from Sawmill, AZ.

3. Mr. Joseph Yracheta presents his research at a recent SACNAS conference.

4. Genomics graduate student Keolu Fox delivers a talk at the National Museum of the American Indian.

References Cited

Burhansstipanov, L., Bemis, L., Dignan, M., and Dukepoo, F. (2001) Development of a genetics education workshop curriculum for Native American college and university students. Genetics, 158 (3): 941.

Bustamante, C.D., De La Vega, F.M., and Burchard, E.G. (2011) Genomics for the world. Nature 475, 163–165.

Dignan, M.B., Burhansstipanov, L., and Bemis, L. (2005) Successful Implementation of Genetic Education for Native Americans Workshops at National Conferences. Genetics, 169(2): 517–521.

HapMap Consortium: http://hapmap.ncbi.nlm.nih.gov.

Human Genome Diversity Project: http://www.hagsc.org/hgdp.

Oguntoyinbo L. (2014) Experts: More Focus Needed on Guiding Native Americans to Doctoral Programs. Diverse Education, 30 July 2014. http://diverseeducation.com/article/66060.

Rasmussen, M., Anzick, S.L.,Waters, M.R., Skoglund, P., DeGiorgio, M., et al. (2014) The genome of a Late Pleistocene human from a Clovis burial site in western Montana. Nature 506, 225–229.

The 1000 Genomes Project Consortium. (2012) An integrated map of genetic variation from 1,092 human genomes. Nature 491, 56–65.

Additional Resources

SING website

NCAI Genetics Resource Guide website

NCAI/NHGRI Symposium website

 

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