Background

Privacy-related concerns can prevent equitable participation in health research by US Indigenous communities. However, studies focused on these communities' views regarding health data privacy, including systematic reviews, are lacking.

Methods

We conducted a systematic literature review analyzing empirical, US-based studies involving American Indian/Alaska Native (AI/AN) and Native Hawaiian or other Pacific Islander (NHPI) perspectives on health data privacy, which we define as the practice of maintaining the security and confidentiality of an individual's personal health records and/or biological samples (including data derived from biological specimens, such as personal genetic information), as well as the secure and approved use of those data.

Results

Twenty-one studies involving 3234 AI/AN and NHPI participants were eligible for review. The results of this review suggest that concerns about the privacy of health data are both prevalent and complex in AI/AN and NHPI communities. Many respondents raised concerns about the potential for misuse of their health data, including discrimination or stigma, confidentiality breaches, and undesirable or unknown uses of biological specimens.

Conclusions

Participants cited a variety of individual and community-level concerns about the privacy of their health data, and indicated that these deter their willingness to participate in health research. Future investigations should explore in more depth which health data privacy concerns are most salient to specific AI/AN and NHPI communities, and identify the practices that will make the collection and use of health data more trustworthy and transparent for participants.

Background

Significant disparities in COVID-19 morbidity and mortality exist for Native American (NA) people, the majority of whom live in urban areas. COVID-19 vaccination is a key strategy for mitigating these disparities; however, vaccination disparities affect NA communities. The current study investigated COVID-19 vaccine decision-making before widespread vaccine rollout occurred, among urban NA communities. We aimed to understand vaccine decision-making factors to develop recommendations about COVID-19 vaccine outreach.

Methods

We conducted three in-depth virtual focus groups with 17 NA adults living in an urban community (Los Angeles County) between December 2020 and January 2021. Participants were recruited through NA community-based organizations and community stakeholders. Reflexive thematic analysis was conducted using Atlas.ti.

Findings

Participants in this study identified two overarching themes with implications for health vaccination campaigns. First, participants described a need for tailored information and outreach, including NA vaccine outreach that addresses misconceptions about vaccine development to calm fears of experimentation and support communication of vaccine evidence specific to NA people. Second, participants suggested strategies to improve public health resources in the urban NA community, such as the need for unified, proactive communication across trusted NA entities, navigation support to improve vaccine accessibility, and adequately resourcing health partnerships with and among trusted NA community agencies for improved reach.

Conclusion

In this qualitative study, we found that urban NA participants reported several factors that affected their vaccine decision-making, including a lack of tailored information for their communities. Our findings also underscore the need to work with tribes, tribal leadership, and urban NA serving organizations to coordinate vaccine communication and distribution to urban communities where the majority of NAs now reside. Further, these findings have implications for COVID-19 vaccine outreach among urban NA communities and demonstrate the need for clear and tailored engagement about the COVID-19 vaccine.

Objective

Latino adults in Los Angeles have experienced disproportionate cases, deaths, and socioeconomic impacts from the COVID-19 pandemic. This qualitative study aimed to explore community perspectives on readiness for COVID-19 vaccination and to identify culturally tailored vaccine outreach strategies.

Methods

We conducted virtual focus groups with Los Angeles County Latino/a residents via Zoom between December 2020 to January 2021, as the first COVID-19 vaccines were receiving Emergency Use Authorization (EUA). Focus groups were facilitated in Spanish and English by bilingual members of the research team. Discussions were analyzed via Atlas.ti software using reflexive thematic analysis.

Results

Three focus groups (n = 15; four to six people each; two Spanish focus groups; one English) were conducted. Thematic findings centered on Latino COVID-19 vaccine equity: (1) Disproportionate infection risk due to essential worker status and socioeconomic burdens, misinformation, and familial or cultural tensions (2) Concerns for inequitable vaccine access due to immigration fears and limited healthcare access, and (3) A need for community-centered COVID-19 vaccine outreach and access.

Conclusions

Our study on early Latino adult reactions to vaccine roll-out suggests the need for outreach strategies centering on validating community hardships, combating dis-/misinformation through trusted sources, and addressing socio-economic needs impacted by the pandemic.

Importance

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.

Objective

To examine factors that members of multiethnic communities at high risk for COVID-19 infection and morbidity report as contributing to vaccine decision-making.

Design, setting, and participants

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.

Main outcomes and measures

Themes were categorized by contextual, individual, and vaccine-specific influences using the World Health Organization's Vaccine Hesitancy Matrix categories.

Results

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).

Conclusions and relevance

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.

Millions of people today have access to their personal genomic information. Direct-to-consumer services and integration with other “big data” increasingly commoditize what was rightly celebrated as a singular achievement in February 2001 when the first draft human genomes were published. But such remarkable technical and scientific progress has not been without its share of missteps and growing pains. Science invited the experts below to help explore how we got here and where we should (or ought not) be going.

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.

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.

There has been tremendous progress in phased genome assembly production by combining long-read data with parental information or linked-read data. Nevertheless, a typical phased genome assembly generated by trio-hifiasm still generates more than 140 gaps. We perform a detailed analysis of gaps, assembly breaks, and misorientations from 182 haploid assemblies obtained from a diversity panel of 77 unique human samples. Although trio-based approaches using HiFi are the current gold standard, chromosome-wide phasing accuracy is comparable when using Strand-seq instead of parental data. Importantly, the majority of assembly gaps cluster near the largest and most identical repeats (including segmental duplications [35.4%], satellite DNA [22.3%], or regions enriched in GA/AT-rich DNA [27.4%]). Consequently, 1513 protein-coding genes overlap assembly gaps in at least one haplotype, and 231 are recurrently disrupted or missing from five or more haplotypes. Furthermore, we estimate that 6-7 Mbp of DNA are misorientated per haplotype irrespective of whether trio-free or trio-based approaches are used. Of these misorientations, 81% correspond to bona fide large inversion polymorphisms in the human species, most of which are flanked by large segmental duplications. We also identify large-scale alignment discontinuities consistent with 11.9 Mbp of deletions and 161.4 Mbp of insertions per haploid genome. Although 99% of this variation corresponds to satellite DNA, we identify 230 regions of euchromatic DNA with frequent expansions and contractions, nearly half of which overlap with 197 protein-coding genes. Such variable and incompletely assembled regions are important targets for future algorithmic development and pangenome representation.

Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals¹. These assemblies cover more than 99% of the expected sequence in each genome and are more than 99% accurate at the structural and base pair levels. Based on alignments of the assemblies, we generate a draft pangenome that captures known variants and haplotypes and reveals new alleles at structurally complex loci. We also add 119 million base pairs of euchromatic polymorphic sequences and 1,115 gene duplications relative to the existing reference GRCh38. Roughly 90 million of the additional base pairs are derived from structural variation. Using our draft pangenome to analyse short-read data reduced small variant discovery errors by 34% and increased the number of structural variants detected per haplotype by 104% compared with GRCh38-based workflows, which enabled the typing of the vast majority of structural variant alleles per sample.