Indigenous Genomic Databases: Pragmatic Considerations and Cultural Contexts

Genome sequences from diverse human groups are needed to understand the structure of genetic variation in our species and the history of, and relationships between, different populations. We present 929 high-coverage genome sequences from 54 diverse human populations, 26 of which are physically phased using linked-read sequencing. Analyses of these genomes reveal an excess of previously undocumented common genetic variation private to southern Africa, central Africa, Oceania, and the Americas, but an absence of such variants fixed between major geographical regions. We also find deep and gradual population separations within Africa, contrasting population size histories between hunter-gatherer and agriculturalist groups in the past 10,000 years, and a contrast between single Neanderthal but multiple Denisovan source populations contributing to present-day human populations.

The underrepresentation of non-Europeans in human genetic studies so far has limited the diversity of individuals in genomic datasets and led to reduced medical relevance for a large proportion of the world’s population. Population-specific reference genome datasets as well as genome-wide association studies in diverse populations are needed to address this issue. Here we describe the pilot phase of the GenomeAsia 100K Project. This includes a whole-genome sequencing reference dataset from 1,739 individuals of 219 population groups and 64 countries across Asia. We catalogue genetic variation, population structure, disease associations and founder effects. We also explore the use of this dataset in imputation, to facilitate genetic studies in populations across Asia and worldwide.

Background Structural violence shapes the health of Indigenous peoples globally, and is deeply embedded in history, individual and institutional racism, and inequitable social policies and practices. Many Indigenous communities have flourished, however, the impact of colonialism continues to have profound health effects for Indigenous peoples in Canada and internationally. Despite increasing evidence of health status inequities affecting Indigenous populations, health services often fail to address health and social inequities as routine aspects of health care delivery. In this paper, we discuss an evidence-based framework and specific strategies for promoting health care equity for Indigenous populations. Methods Using an ethnographic design and mixed methods, this study was conducted at two Urban Aboriginal Health Centres located in two inner cities in Canada, which serve a combined patient population of 5,500. Data collection included in-depth interviews with a total of 114 patients and staff (n = 73 patients; n = 41 staff), and over 900 h of participant observation focused on staff members’ interactions and patterns of relating with patients. Results Four key dimensions of equity-oriented health services are foundational to supporting the health and well-being of Indigenous peoples: inequity-responsive care, culturally safe care, trauma- and violence-informed care, and contextually tailored care. Partnerships with Indigenous leaders, agencies, and communities are required to operationalize and tailor these key dimensions to local contexts. We discuss 10 strategies that intersect to optimize effectiveness of health care services for Indigenous peoples, and provide examples of how they can be implemented in a variety of health care settings. Conclusions While the key dimensions of equity-oriented care and 10 strategies may be most optimally operationalized in the context of interdisciplinary teamwork, they also serve as health equity guidelines for organizations and providers working in various settings, including individual primary care practices. These strategies provide a basis for organizational-level interventions to promote the provision of more equitable, responsive, and respectful PHC services for Indigenous populations. Given the similarities in colonizing processes and Indigenous peoples’ experiences of such processes in many countries, these strategies have international applicability.