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Integration of genomic technology into healthcare settings establishes new capabilities to predict disease susceptibility and optimize treatment regimes. Yet, Indigenous peoples remain starkly underrepresented in genetic and clinical health research and are unlikely to benefit from such efforts. To foster collaboration with Indigenous communities, we propose six principles for ethical engagement in genomic research: understand existing regulations, foster collaboration, build cultural competency, improve research transparency, support capacity building, and disseminate research findings. Inclusion of underrepresented communities in genomic research has the potential to expand our understanding of genomic influences on health and improve clinical approaches for all populations. Indigenous peoples are still underrepresented in genetic research. Here, the authors propose an ethical framework consisting of six major principles that encourages researchers and Indigenous communities to build strong and equal partnerships to increase trust, engagement and diversity in genomic studies.

In 2004, the Havasupai Tribe filed a lawsuit against the Arizona Board of Regents and Arizona State University (ASU) researchers upon discovering their DNA samples, initially collected for genetic studies on type 2 diabetes, had been used in several other genetic studies. The lawsuit reached a settlement in April 2010 that included monetary compensation and return of DNA samples to the Havasupai but left no legal precedent for researchers. Through semistructured interviews, institutional review board (IRB) chairs and human genetics researchers at US research institutions revealed their perspectives on the Havasupai lawsuit. For interviewees, the suit drew attention to indigenous concerns over genetic studies and increased their awareness of indigenous views. However, interviewees perceived no direct impact from the Havasupai case on their work; if they did, it was the perceived need to safeguard themselves by obtaining broad consent or shying away from research with indigenous communities altogether, raising important questions of justice for indigenous and minority participants. If researchers and IRBs do not change their practices in light of this case, these populations will likely continue to be excluded from a majority of research studies and left with less access to resources and potential benefit from genetic research participation.

Indigenous Peoples are increasingly being sought out for research partnerships that incorporate Indigenous Knowledges into ecology research. In such research partnerships, it is essential that Indigenous data are cared for ethically and responsibly. Here we outline how the ‘CARE Principles for Indigenous Data Governance’ can sow community ethics into disciplines that are inundated with extractive helicopter research practices, and we provide standardized practices for evolving data and research landscapes.

Addressing Indigenous rights and interests in genetic resources has become increasingly challenging in an open science environment that promotes unrestricted access to genomic data. Although Indigenous experiences with genetic research have been shaped by a series of negative interactions, there is increasing recognition that equitable benefits can only be realized through greater participation of Indigenous communities. Issues of trust, accountability and equity underpin Indigenous critiques of genetic research and the sharing of genomic data. This Perspectives article highlights identified issues for Indigenous communities around the sharing of genomic data and suggests principles and actions that genomic researchers can adopt to recognize community rights and interests in data.In this Perspective article, the authors discuss how Indigenous Peoples' desires for greater involvement and oversight when participating in genomic research projects can be balanced against calls for unrestricted data access. They provide practical recommendations for the handling and sharing of Indigenous genomic data, with the aim of achieving mutual benefit for the research community and participating Indigenous communities.

This study examined challenges faced by families and health providers related to genetic testing for autism spectrum disorder (ASD). This qualitative study of 14 parents and 15 health providers identified an unstandardized three-step process for families who pursue ASD genetic testing. Step 1 is the clinical diagnosis of ASD, confirmed by providers practicing alone or in a team. Step 2 is the offer of genetic testing to find an etiology. For those offered testing, step 3 involves the parents’ decision whether to pursue testing. Despite professional guidelines and recommendations, interviews describe considerable variability in approaches to genetic testing for ASD, a lack of consensus among providers, and questions about clinical utility. Many families in our study were unaware of the option for genetic testing; testing decisions by parents appear to be influenced by both provider recommendations and insurance coverage. Consideration of genetic testing for ASD should take into account different views about the clinical utility of testing and variability in insurance coverage. Ideally, policy makers from the range of clinical specialties involved in ASD care should revisit policies to clarify the purpose of genetic testing for ASD and promote consensus about its appropriate use.

The COVID-19 pandemic has had disproportionate effects on racial and ethnic minority communities, where preexisting clinical and social conditions amplify health and social disparities. Many of these communities report lower vaccine confidence and lower receipt of the COVID-19 vaccine. Understanding factors that influence the multifaceted decision-making process for vaccine uptake is critical for narrowing COVID-19-related disparities. To examine factors that members of multiethnic communities at high risk for COVID-19 infection and morbidity report as contributing to vaccine decision-making. This qualitative study used community-engaged methods to conduct virtual focus groups from November 16, 2020, to January 28, 2021, with Los Angeles County residents. Potential participants were recruited through email, video, and telephone outreach to community partner networks. Focus groups were stratified by self-identified race and ethnicity as well as age. Transcripts were analyzed using reflexive thematic analysis. Themes were categorized by contextual, individual, and vaccine-specific influences using the World Health Organization's Vaccine Hesitancy Matrix categories. A total of 13 focus groups were conducted with 70 participants (50 [71.4%] female) who self-identified as American Indian (n = 17 [24.3%]), Black/African American (n = 17 [24.3%]), Filipino/Filipina (n = 11 [15.7%]), Latino/Latina (n = 15 [21.4%]), or Pacific Islander (n = 10 [14.3%]). A total of 39 participants (55.7%) were residents from high-poverty zip codes, and 34 (48.6%) were essential workers. The resulting themes included policy implications for equitable vaccine distribution: contextual influences (unclear and unreliable information, concern for inequitable access or differential treatment, references to mistrust from unethical research studies, accessibility and accommodation barriers, eligibility uncertainty, and fears of politicization or pharmaceutical industry influence); social and group influences (inadequate exposure to trusted messengers or information, altruistic motivations, medical mistrust, and desire for autonomy); and vaccination-specific influences (need for vaccine evidence by subpopulation, misconceptions on vaccine development, allocation ambiguity, vaccination safety preferences, the importance of perceiving vaccine equity, burden of vaccine scheduling, cost uncertainty, and desire for practitioner recommendation). In this qualitative study, participants reported a number of factors that affected their vaccine decision-making, including concern for inequitable vaccine access. Participants endorsed policy recommendations and strategies to promote vaccine confidence. These results suggest that support of informed deliberation and attainment of vaccine equity will require multifaceted, multilevel policy approaches that improve COVID-19 vaccine knowledge, enhance trust, and address the complex interplay of sociocultural and structural barriers to vaccination.

Ancestral remains should be regarded not as “artifacts” but as human relatives who deserve respect Recent scientific developments have drawn renewed attention to the complex relationships among Indigenous peoples, the scientific community, settler colonial governments, and ancient human remains ( 1 , 2 ). Increasingly, DNA testing of ancestral remains uncovered in the America s is being used in disputes over these remains ( 3 ). However, articulations of ethical principles and practices in paleogenomics have not kept pace ( 4 ), even as results of these studies can have negative consequences, undermining or complicating community claims in treaty, repatriation, territorial, or other legal cases. Paleogenomic narratives may also misconstrue or contradict community histories, potentially harming community or individual identities. Paleogenomic data can reveal information about descendant communities that may be stigmatizing, such as genetic susceptibilities to disease. Given the potential consequences for Indigenous communities, it is critical that paleogenomic researchers consider their ethical obligations more carefully than in the past.

The human reference genome is the most widely used resource in human genetics and is due for a major update. Its current structure is a linear composite of merged haplotypes from more than 20 people, with a single individual comprising most of the sequence. It contains biases and errors within a framework that does not represent global human genomic variation. A high-quality reference with global representation of common variants, including single-nucleotide variants, structural variants and functional elements, is needed. The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here we leverage innovations in technology, study design and global partnerships with the goal of constructing the highest-possible quality human pangenome reference. Our goal is to improve data representation and streamline analyses to enable routine assembly of complete diploid genomes. With attention to ethical frameworks, the human pangenome reference will contain a more accurate and diverse representation of global genomic variation, improve gene–disease association studies across populations, expand the scope of genomics research to the most repetitive and polymorphic regions of the genome, and serve as the ultimate genetic resource for future biomedical research and precision medicine. The Human Pangenome Reference Consortium aims to offer the highest quality and most complete human pangenome reference that provides diverse genomic representation across human populations.

Health equity is the state in which everyone has fair and just opportunities to attain their highest level of health. The field of human genomics has fallen short in increasing health equity, largely because the diversity of the human population has been inadequately reflected among participants of genomics research. This lack of diversity leads to disparities that can have scientific and clinical consequences. Achieving health equity related to genomics will require greater effort in addressing inequities within the field. As part of the commitment of the National Human Genome Research Institute (NHGRI) to advancing health equity, it convened experts in genomics and health equity research to make recommendations and performed a review of current literature to identify the landscape of gaps and opportunities at the interface between human genomics and health equity research. This Perspective describes these findings and examines health equity within the context of human genomics and genomic medicine. This Perspective discusses how addressing disparities in genomics can drive improvements in health equity more broadly.

Pigmentation of the skin, hair, and eyes varies both within and between human populations. Identifying the genes and alleles underlying this variation has been the goal of many candidate gene and several genome-wide association studies (GWAS). Most GWAS for pigmentary traits to date have been based on subjective phenotypes using categorical scales. But skin, hair, and eye pigmentation vary continuously. Here, we seek to characterize quantitative variation in these traits objectively and accurately and to determine their genetic basis. Objective and quantitative measures of skin, hair, and eye color were made using reflectance or digital spectroscopy in Europeans from Ireland, Poland, Italy, and Portugal. A GWAS was conducted for the three quantitative pigmentation phenotypes in 176 women across 313,763 SNP loci, and replication of the most significant associations was attempted in a sample of 294 European men and women from the same countries. We find that the pigmentation phenotypes are highly stratified along axes of European genetic differentiation. The country of sampling explains approximately 35% of the variation in skin pigmentation, 31% of the variation in hair pigmentation, and 40% of the variation in eye pigmentation. All three quantitative phenotypes are correlated with each other. In our two-stage association study, we reproduce the association of rs1667394 at the OCA2/HERC2 locus with eye color but we do not identify new genetic determinants of skin and hair pigmentation supporting the lack of major genes affecting skin and hair color variation within Europe and suggesting that not only careful phenotyping but also larger cohorts are required to understand the genetic architecture of these complex quantitative traits. Interestingly, we also see that in each of these four populations, men are more lightly pigmented in the unexposed skin of the inner arm than women, a fact that is underappreciated and may vary across the world.