Subcontinental Genetic Diversity in the All of Us Research Program: Implications for Biomedical Research

bioRxiv (Cold Spring Harbor Laboratory), Год журнала: 2025, Номер unknown

Опубликована: Янв. 10, 2025

ABSTRACT The All of Us Research Program ( ) seeks to accelerate biomedical research and address the underrepresentation minorities by recruiting over one million ethnically diverse participants across United States. A key question is how self-identification with discrete, predefined race ethnicity categories compares genetic diversity at continental subcontinental levels. To contextualize in , we analyzed ∼2 common variants from 230,016 unrelated whole genomes using classical population genetics methods, alongside reference panels such as 1000 Genomes Project, Human Genome Diversity Simons Project. Our analysis reveals that within self-identified groups exhibit a gradient rather than discrete clusters. distributions ancestries show considerable variation ethnicity, both nationally states, reflecting historical impacts U.S. colonization, transatlantic slave trade, recent migrations. samples filled most gaps along top five principal components current global panels. Notably, “Hispanic or Latino” spanned much three-way (African, Native American, European) admixture spectrum. Ancestry was significantly associated body mass index (BMI) height, even after adjusting for socio-environmental covariates. In particular, West-Central East African showed opposite associations BMI. This study emphasizes importance assessing ancestries, approach insufficient control confounding association studies.

Язык: Английский

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Revisiting Race and the Benefit of RAS Blockade in Heart Failure

JAMA, Год журнала: 2024, Номер 331(24), С. 2094 - 2094

Опубликована: Май 29, 2024

Concerns have arisen that renin-angiotensin system (RAS) blockers are less effective in Black patients than non-Black with heart failure and reduced ejection fraction (HFrEF).

Язык: Английский

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Ethical and security challenges in AI for forensic genetics: From bias to adversarial attacks

Forensic Science International Genetics, Год журнала: 2025, Номер 76, С. 103225 - 103225

Опубликована: Янв. 27, 2025

Язык: Английский

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Evolution, genetic diversity, and health

Nature Medicine, Год журнала: 2025, Номер unknown

Опубликована: Март 7, 2025

Язык: Английский

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Editorial: Embracing Complexity When Examining the Social Construct of Race: Nuanced Strategies are Needed to Reduce Harm and Improve Neurodevelopmental Science

Journal of the American Academy of Child & Adolescent Psychiatry, Год журнала: 2025, Номер unknown

Опубликована: Март 1, 2025

Язык: Английский

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Genetics as a Natural Resource

Oxford University Press eBooks, Год журнала: 2025, Номер unknown

Опубликована: Март 20, 2025

Abstract As a natural resource, genetic data are constructed into exploitable materials for, presumably, the benefit of all humankind. However, positive and negative impacts resources not distributed equitably across These types inequities often mirror health that occur along racial lines. Keeping in mind genetics research operates within spectre eugenics unethical biomedical research, this article highlights development consequences geneticization discusses concerns about access sovereignty, which complicate genetics’ status as common-use resource can be freely exploited. Because risks unequally, it is especially problematic when researchers over-emphasize role variation well race disease. This form precludes holistic understanding intersecting biological, social, environmental factors impact outcomes also naturalize or otherwise perpetuate disparities. calls for an engaged intersectional approach to use resources. Such will require make more concerted efforts understand context provenance used ensure marginalized communities experience some from contributing research.

Язык: Английский

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What it means to abandon race in science?

Experimental Physiology, Год журнала: 2024, Номер 109(8), С. 1246 - 1248

Опубликована: Май 3, 2024

A February 2024 paper in the journal Nature—'Genomic data All of Us Research Program'— has come under fire for a figure seen by some as reinforcing biological views human races (Kozlov, 2024). The figure, titled 'Genetic ancestry Us', uses six racial groups—Asian, Black or African American, Middle Eastern North African, Native Hawaiian Other Pacific Islander, White, and More than one population—to represent, race, genetic diversity participant population (All Program Genomics Investigators, We will not debate accuracy here, its role biologized notions race considered many anathema to field. Nor is it worth relitigating ongoing misuse categories scientific thought how such create hierarchy where there none, crude difference that very poorly reflect general relationship between health-related traits (Vyas et al.,2020; Yudell al., 2016). Instead, stands an example use persists despite more century evidence illustrating limitations dangers (Graves, 2001; Hammonds & Herzig, 2009; Yudell, 2014). And 2023 U.S. National Academies Sciences, Engineering, Medicine (NASEM) report, Using Population Descriptors Genetics Research: New Framework Evolving Field (National Academies, 2023), which was supported Institutes Health United States, institute created financially supports Project. do appreciate report recommendations are barely year old. Science lumbering policy perhaps so. Our hope, hope others who had hand calling and/or shaping would, over time, help reshape geneticists operationalized descriptors their research. That centerpiece disease research at NIH largely ignored report's speaks challenges redressing these failures itself tries settle longstanding challenge health research: should terminology—terms like Black, Asian Hispanic—be used describe measure genetics genomics research? (Borrell 2021). answer, according itself, resounding no. In almost all cases, scientists be using 2023, p. 102). Why this? Well, two reasons. First, Committee explains, been shown flawed proxy one's make-up biology. 'There pervasive misconception humans can grouped into discrete, innate categories', states. This because, 'the fundamentally sociopolitical origins make them poor fit capturing analytical tools research' 7). And, second, dangerous side effect promoting mistaken belief fundamental differences, both social, groups. seeks put rest, stating 'use reinforces misconceptions about differences caused social inequities. Current practices genetics, including continental ancestry, also reinforce views' While Nature cited above suggests progress slow, NASEM lays out 12 improve study concepts. first set (nos 1–5) focus on limits typological thinking among most important. Typological assumes every individual perfect specific type this represent group. Recommendation 1 could clearer rejecting plainly 'researchers variation'. recommendation sends message researchers 'whether self-identified not'. Recommendations 2 3 build this, telling 'when grouping people studies variation, avoid thinking' they 'should attentive connotations impacts terminology label groups'. 4 focuses information other determinants upon conducting directly evaluate environmental factors exposures potential relevance studies, rather rely proxies'. calls collaborative community-based research, genomic collaborate with 'experts sciences, epidemiology, relevant disciplines aid whenever possible' pp. 101–112). second (6–8) selection identifiers specifically tailoring 'to purpose study', applying 'consistently participants', disclosing process selected assigned group labels rationale any samples' 113–116). final (9–13) implementation accountability, funders, institutions conducted, journals facilitate provide incentives types interdisciplinary collaborations needed. call funders science 'create new initiatives advance methods development best descriptor usage 158–159). For those working related fields, page 121 useful table designed support decisions when different descriptors, 121). considering balance level concerns disparities impact ethnic groups differentially, acknowledges descriptor. But makes abundantly clear, adhere strict criteria utilizing categories. example, committee concludes 'racial phenotypic cannot ascribed without evidence', 'avoid because proxies exposures' instead 'replace supplement descent-associated mediate exposures, education, employment, housing quality, access care, name only few'. However, goal explicitly structural racism discrimination, then may appropriate but need carefully described (e.g., not) justified' 130–131). These guidepost across array scientific, clinical public fields regardless whether component being done. Whether ultimately successful much-needed change however, depend several factors. success willingness federal transition away from typologies study. require budgetary authority substantive sustained populations studied, recruited disciplines. Second, must willing partners space, following guidelines reports professional groups, burgeoning literature natural involved populations. Third finally, commitment community sciences integrate so we truly move past science. As scholars whose work centers history ethics health, delighted relieved significant changes have imprimatur optimistic details diversity. Abandoning concepts take time dedication. through efforts NASEM, necessary happen. Both authors read approved version manuscript agree accountable aspects ensuring questions integrity part appropriately investigated resolved. persons designated qualify authorship, authorship listed. declare no conflicts interest. None.

Язык: Английский

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Ancestry, ethnicity, and race: explaining inequalities in cardiometabolic disease

Trends in Molecular Medicine, Год журнала: 2024, Номер 30(6), С. 541 - 551

Опубликована: Апрель 26, 2024

Population differences in cardiometabolic disease remain unexplained. Misleading assumptions over genetic explanations are partly due to terminology used distinguish populations, specifically ancestry, race, and ethnicity. These terms differentially implicate environmental biological causal pathways, which should inform their use. Genetic variation alone accounts for a limited fraction of population disease. Research effort focus on societally driven, lifelong determinants Rather than pursuing stratifiers personalize medicine, we advocate removing socioeconomic barriers receipt adherence healthcare interventions, will have markedly greater impact improving outcomes. This requires multidisciplinary collaboration public policymaker engagement address inequalities driven by society rather biology per se.

Язык: Английский

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Part I. Building a Diagrammatics of ‘Race’ in the Emerging Field of Anthropology

Open Book Publishers, Год журнала: 2024, Номер unknown, С. 11 - 16

Опубликована: Июль 30, 2024

Part I shows how diagrams were an integral part of racial anthropology from the start. A wide range diagrammatic imagery was introduced to produce human ‘races’ as physical entities in first place, such geometric renderings skull outlines, which lines for comparative measurement might be shown, superimpositions, or tables presenting craniometric means different ‘races’. Diagrams seem have suggested themselves tools a science that aimed at categorizing and classifying groups, because, following Charles Sanders Peirce, represent relations proportions characterize phenomenon. However, are also constructive – they may bring newly into being informed by inform ideological conceptions. The approach, its portrayal perception bodies, particularly skulls, terms laid foundation new field approach developed diagrammatics ‘race’ through introduction instruments measurements.

Язык: Английский

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11. Denying Even the Tree-Structured Human Kinship

Open Book Publishers, Год журнала: 2024, Номер unknown, С. 151 - 164

Опубликована: Июль 30, 2024

When ‘the racial family tree’ reached its heyday, it came to carry strange blossoms. Paleoanthropology of age in the early twentieth century, but uncertainty about fossil evidence and evolutionary mechanisms were part reason for a trend towards underestimation kinship between living human forms, different hominids, apes humans, as well recent varieties. Starting from particularly bewildering phylogeny by geneticist turned anthropologist Reginald Ruggles Gates, Chapter 11 begins enquire into these developments their entanglement with ‘racial’ politics decades century.

Язык: Английский

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