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Nature Mar 2024Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for the field of human genetics. The All of Us Research...
Comprehensively mapping the genetic basis of human disease across diverse individuals is a long-standing goal for the field of human genetics. The All of Us Research Program is a longitudinal cohort study aiming to enrol a diverse group of at least one million individuals across the USA to accelerate biomedical research and improve human health. Here we describe the programme's genomics data release of 245,388 clinical-grade genome sequences. This resource is unique in its diversity as 77% of participants are from communities that are historically under-represented in biomedical research and 46% are individuals from under-represented racial and ethnic minorities. All of Us identified more than 1 billion genetic variants, including more than 275 million previously unreported genetic variants, more than 3.9 million of which had coding consequences. Leveraging linkage between genomic data and the longitudinal electronic health record, we evaluated 3,724 genetic variants associated with 117 diseases and found high replication rates across both participants of European ancestry and participants of African ancestry. Summary-level data are publicly available, and individual-level data can be accessed by researchers through the All of Us Researcher Workbench using a unique data passport model with a median time from initial researcher registration to data access of 29 hours. We anticipate that this diverse dataset will advance the promise of genomic medicine for all.
Topics: Humans; Access to Information; Black People; Datasets as Topic; Electronic Health Records; Ethnicity; European People; Genetic Predisposition to Disease; Genetic Variation; Genetics, Medical; Genetics, Population; Genome, Human; Genomics; Longitudinal Studies; Minority Groups; Racial Groups; Reproducibility of Results; Research Personnel; Time Factors; Vulnerable Populations
PubMed: 38374255
DOI: 10.1038/s41586-023-06957-x -
The New Zealand Medical Journal Oct 2023This literature review aims to identify and review through a Kaupapa Māori lens the current knowledge base related to cannabis and methamphetamine, and Māori. (Review)
Review
AIM
This literature review aims to identify and review through a Kaupapa Māori lens the current knowledge base related to cannabis and methamphetamine, and Māori.
METHODS
A Kaupapa Māori research approach was utilised to identify, review and critique literature about cannabis and methamphetamine in New Zealand. Literature contents were categorised via publication type, population focus, substance focus, research approach, methods used and whether lived experience voices were centralised. Substance engagement was categorised within prevention, use or treatment contexts.
RESULTS
Thirty literature sources were included in this review. The majority were journal articles, utilised quantitative survey data collection methods, focussed on large population groups and investigated individual characteristics of users of cannabis and/or methamphetamine. Most articles took a general population approach, briefly mentioning Māori, or measured differences in drug use between Māori and others. More recent research led by Māori, or with a critical lens, highlighted the value of focussing on drug use, rather than drug users.
CONCLUSIONS
Understandings of cannabis and methamphetamine use in New Zealand are reliant on research insights and academic literature. Literature focussed mainly on individuals fuels negative stereotypes of Māori and lacks critical Kaupapa Māori insights. To address cannabis and methamphetamine harms experienced by Māori, future research should make an explicit commitment to be of benefit to Māori and implement Kaupapa Māori-consistent research approaches.
Topics: Humans; Cannabis; Maori People; Methamphetamine; New Zealand; Substance-Related Disorders
PubMed: 37856756
DOI: No ID Found -
JAMA Cardiology Sep 2023To address systemic disparities in biomedical research, the All of Us (AoU) Research Program was created to identify the root causes and consequences of health outcomes...
IMPORTANCE
To address systemic disparities in biomedical research, the All of Us (AoU) Research Program was created to identify the root causes and consequences of health outcomes in the US. However, the extent of AoU's racial and ethnic diversity is unknown.
OBJECTIVE
To quantify representation of key racial and ethnic groups in the accruing AoU nationwide health cohort and compare with their actual representation in the US.
DESIGN, SETTING, AND PARTICIPANTS
This cohort study compared the AoU program from May 2017 to June 2022 for individuals 18 years and older with the Decennial Survey 2020 (DEC) collected by the US Census Bureau.
EXPOSURES
Representation of non-Hispanic Asian, non-Hispanic Black or African American, Hispanic or Latino, non-Hispanic White, and uncategorized or multiple races in AoU.
MAIN OUTCOMES AND MEASURES
The extent of underrepresentation or overrepresentation of each racial group in the AoU program at both nationwide and state-level relative to DEC.
RESULTS
Of the 358 705 US adults in the AoU to date, individuals identified with the following race and ethnicity categories: 12 710 non-Hispanic Asian (3.5%), 73 348 non-Hispanic Black or African American (20.5%), 58 488 Hispanic or Latino (16.3%), 205 457 non-Hispanic White (57.3%), and 8702 uncategorized or reporting multiple categories (2.4%). Of 355 413 participants with available sex at birth and age data, 218 981 (61.6%) were female and had a mean (SD) age of 53.1 (17.0) years, 136 037 (38.28%) were male and had a mean (SD) age of 56.7 (17.0) years, and 395 reported nonbinary sex (0.1%), with a mean (SD) age of 55.4 (15.8) years. Compared with the referent US, non-Hispanic Black or African American individuals were overrepresented in the AoU by 8.73% (AoU, 20.5% [73 348 of 358 705] vs DEC, 11.7% [30 266 080 of 258 343 281]) and by relative scale, 1.94-fold. Non-Hispanic White individuals accounted for the greatest participation in the AoU with generally consistent dominance across all regions yet numerically underrepresented by absolute difference of -3.54% (95% CI, -3.70 to -3.38). Uncategorized or multiracial group in the AoU (2.4% [8702 of 358 705]) was 0.43-fold likely to be represented relative to the DEC (4.6% [11 922 096 of 258 343 281]) with an absolute difference of -2.19% (95% CI, -2.24 to -2.14). Moreover, non-Hispanic Asian individuals were underrepresented by -2.54% (95% CI, -2.60 to -2.48) prominently in most states. Individuals identifying as Hispanic or Latino were nominally underrepresented by -0.46% (95% CI, -0.58 to -0.34) (AoU, 16.3% [58 488 of 358 705] vs DEC, 16.8% [43 322 792 of 258 343 281]).
CONCLUSIONS AND RELEVANCE
Recruitment trends for the ongoing AoU show relatively improved representation of some major race groups with geographic trends. These findings underscore the need to further tailor and augment recruitment and participation initiatives for diverse populations.
Topics: Adult; Female; Humans; Male; Middle Aged; Cohort Studies; Ethnicity; Hispanic or Latino; Population Health; Racial Groups; United States; Asian; Black or African American; White
PubMed: 37585212
DOI: 10.1001/jamacardio.2023.2411 -
JAMA Network Open Oct 2023Physician burnout is widely reported to be an increasing problem in the US. Although prior analyses suggest physician burnout is rising nationally, these analyses have...
IMPORTANCE
Physician burnout is widely reported to be an increasing problem in the US. Although prior analyses suggest physician burnout is rising nationally, these analyses have substantial limitations, including different physicians joining and leaving clinical practice.
OBJECTIVE
To examine the prevalence of burnout among physicians in a large multispecialty group over a 5-year period.
DESIGN, SETTING, AND PARTICIPANTS
This survey study was conducted in 2017, 2019, and 2021 and involved physician faculty members of the Massachusetts General Physicians Organization. Participants represented different clinical specialties and a full range of career stages. The online survey instrument had 4 domains: physician career and compensation satisfaction, physician well-being, administrative workload on physicians, and leadership and diversity.
EXPOSURE
Time.
MAIN OUTCOMES AND MEASURES
Physician burnout, which was assessed with the Maslach Burnout Inventory. A binary burnout measure was used, which defined burnout as a high score in 2 of the 3 burnout subscales: Exhaustion, Cynicism, and Reduced Personal Efficacy.
RESULTS
A total of 1373 physicians (72.9% of the original 2017 cohort) participated in all 3 surveys. The cohort included 690 (50.3%) male, 921 (67.1%) White, and 1189 (86.6%) non-Hispanic individuals. The response rates were 93.0% in 2017, 93.0% in 2019, and 92.0% in 2021. Concerning years of experience, the cohort was relatively well distributed, with the highest number and proportion of physicians (478 [34.8%]) reporting between 11 and 20 years of experience. Within this group, burnout declined from 44.4% (610 physicians) in 2017 to 41.9% (575) in 2019 (P = .18) before increasing to 50.4% (692) in 2021 (P < .001).
CONCLUSIONS AND RELEVANCE
Findings of this survey study suggest that the physician burnout rate in the US is increasing. This pattern represents a potential threat to the ability of the US health care system to care for patients and needs urgent solutions.
Topics: Humans; Male; Female; Job Satisfaction; Physicians; Burnout, Professional; Massachusetts; Population Groups
PubMed: 37801314
DOI: 10.1001/jamanetworkopen.2023.36745 -
Scientific Reports Sep 2023The contribution of migrated people from once green Sahara (about 10,000-6000 years BC) towards Mediterranean area had probably a double effect: both genetic and... (Meta-Analysis)
Meta-Analysis
The contribution of migrated people from once green Sahara (about 10,000-6000 years BC) towards Mediterranean area had probably a double effect: both genetic and cultural connections have been described between Western Europe and North Africa. Sudanese populations from different ethnicities have been studied for HLA-A, -B, -DRB1 and -DQB1 antigens by a standard microlymphotoxicity method. Results found show that Nubians are genetically related with African Sub-Saharan populations and distant from other Sudanese tribes, who are closer to Mediterranean populations than to Sub-Saharan ones. This is concordant with other authors and meta-analysis data. Our present work is, to our knowledge, the first and only one HLA research that studies Sudanese people according to different Sudan ethnic groups: samples were collected before Sudan partition between North and South. A prehistoric genetic and peoples exchange between Africa and the Mediterranean basin may be observed and is supported with the results obtained in this Sudanese HLA study. However, demic diffusion model of agriculture and other anthropological traits from Middle East to West Europe/Maghreb do not exist: a more detailed Sahel and North African countries ancient and recent admixture studies are also being carried out which may clearer explain pastoralists/agriculture innovations origins in Eurafrican Mediterranean and Atlantic façade.
Topics: Humans; Haplotypes; Alleles; Black People; Racial Groups; Sudan
PubMed: 37758772
DOI: 10.1038/s41598-023-40173-x -
JAMA Network Open Oct 2023Variants of uncertain significance (VUSs) are rampant in clinical genetic testing, frustrating clinicians, patients, and laboratories because the uncertainty hinders...
IMPORTANCE
Variants of uncertain significance (VUSs) are rampant in clinical genetic testing, frustrating clinicians, patients, and laboratories because the uncertainty hinders diagnoses and clinical management. A comprehensive assessment of VUSs across many disease genes is needed to guide efforts to reduce uncertainty.
OBJECTIVE
To describe the sources, gene distribution, and population-level attributes of VUSs and to evaluate the impact of the different types of evidence used to reclassify them.
DESIGN, SETTING, AND PARTICIPANTS
This cohort study used germline DNA variant data from individuals referred by clinicians for diagnostic genetic testing for hereditary disorders. Participants included individuals for whom gene panel testing was conducted between September 9, 2014, and September 7, 2022. Data were analyzed from September 1, 2022, to April 1, 2023.
MAIN OUTCOMES AND MEASURES
The outcomes of interest were VUS rates (stratified by age; clinician-reported race, ethnicity, and ancestry groups; types of gene panels; and variant attributes), percentage of VUSs reclassified as benign or likely benign vs pathogenic or likely pathogenic, and enrichment of evidence types used for reclassifying VUSs.
RESULTS
The study cohort included 1 689 845 individuals ranging in age from 0 to 89 years at time of testing (median age, 50 years), with 1 203 210 (71.2%) female individuals. There were 39 150 Ashkenazi Jewish individuals (2.3%), 64 730 Asian individuals (3.8%), 126 739 Black individuals (7.5%), 5539 French Canadian individuals (0.3%), 169 714 Hispanic individuals (10.0%), 5058 Native American individuals (0.3%), 2696 Pacific Islander individuals (0.2%), 4842 Sephardic Jewish individuals (0.3%), and 974 383 White individuals (57.7%). Among all individuals tested, 692 227 (41.0%) had at least 1 VUS and 535 385 (31.7%) had only VUS results. The number of VUSs per individual increased as more genes were tested, and most VUSs were missense changes (86.6%). More VUSs were observed per sequenced gene in individuals who were not from a European White population, in middle-aged and older adults, and in individuals who underwent testing for disorders with incomplete penetrance. Of 37 699 unique VUSs that were reclassified, 30 239 (80.2%) were ultimately categorized as benign or likely benign. A mean (SD) of 30.7 (20.0) months elapsed for VUSs to be reclassified to benign or likely benign, and a mean (SD) of 22.4 (18.9) months elapsed for VUSs to be reclassified to pathogenic or likely pathogenic. Clinical evidence contributed most to reclassification.
CONCLUSIONS AND RELEVANCE
This cohort study of approximately 1.6 million individuals highlighted the need for better methods for interpreting missense variants, increased availability of clinical and experimental evidence for variant classification, and more diverse representation of race, ethnicity, and ancestry groups in genomic databases. Data from this study could provide a sound basis for understanding the sources and resolution of VUSs and navigating appropriate next steps in patient care.
Topics: Adolescent; Adult; Aged; Aged, 80 and over; Child; Child, Preschool; Female; Humans; Infant; Infant, Newborn; Male; Middle Aged; Young Adult; American Indian or Alaska Native; Canada; Cohort Studies; Ethnicity; Genetic Testing; Genetic Diseases, Inborn; Racial Groups
PubMed: 37878314
DOI: 10.1001/jamanetworkopen.2023.39571 -
Pediatrics Dec 2023Parental incarceration (PI) is both an adverse childhood experience (ACE) and an influencer of pediatric health. Despite evidence that rural America sees the highest...
BACKGROUND AND OBJECTIVES
Parental incarceration (PI) is both an adverse childhood experience (ACE) and an influencer of pediatric health. Despite evidence that rural America sees the highest incarceration rates and substantial inequities in pediatric health care access and services, it is unclear how the prevalence of PI and associated sociodemographic factors vary across urban, suburban, and rural regions of the United States.
METHODS
This study used data from the National Survey of Children's Health (2016-2021; N = 145 281). Based on proximity and population, households were categorized as urban, suburban, or rural. Caregivers reported on household income, race/ethnicity, and living arrangements as well as children's exposure to ACEs, including PI. Chi-squared and t-tests compared the prevalence of PI across communities and assessed regional differences in ACEs and sociodemographic characteristics in the context of PI.
RESULTS
PI was most common in rural (12%) versus urban (8%) and suburban (6%) areas. ACEs were more prevalent among PI children compared with non-PI peers across regions, with slight differences between PI children across locales. Within all regions, PI was highest for Black, Latinx, Native, and multiracial children; those in poverty; and those in nonparent caregiver placements. However, these prevalences were consistently highest among rural children.
CONCLUSIONS
This study points to high rates of adversity and concern racial, economic, and residential disparities for PI children, particularly those in rural communities. Evidence from this study can be used as a foundation for future prevention and intervention pediatric health responses that address inequities and unmet needs for rural populations.
Topics: Child; Humans; Ethnicity; Parents; Poverty; Racial Groups; Rural Population; United States; Incarceration; Health Services Accessibility; Adverse Childhood Experiences
PubMed: 37909107
DOI: 10.1542/peds.2023-062420 -
Journal of Racial and Ethnic Health... Oct 2023Hispanic Veterans are the largest growing racial and ethnic minority group in the Veterans Health Administration (VA) system. Though recent research has found increasing...
Hispanic Veterans are the largest growing racial and ethnic minority group in the Veterans Health Administration (VA) system. Though recent research has found increasing suicide rates in this population and a growing rural-urban disparity, literature on core population characteristics remains sparse. We used extensive patient demographic and clinical data from VA's electronic medical record repository to examine geographic and longitudinal variation in Hispanic VA patients from 2001 to 2018. As the first such detailed characterization of this population, this study was largely descriptive in nature, and included heatmaps of Hispanic patient residence across rural and urban US counties, along with descriptive measures of patient characteristics by rurality, and first year of VA use. We found that Hispanic patients (n = 722,893) represented 5.2% of new VA users between 2001 and 2018, a proportion which grew nearly 90% from 4.0% (2001-2006) to 7.5% (2013-2018). Hispanic patients were largely White, male, under age 50, and had minimal illness or disability. The highest prevalence of Hispanic patients was in the Southwest US/Mexico border region, while the Midwest experienced the largest growth of Hispanic patients. Rural Hispanic patients were more likely to be older, male, and to live in areas characterized by small foreign-born populations and high socioeconomic deprivation. Compared with Hispanic patients entering the VA system in 2001-2006, patients in 2013-2018 were younger, more likely to be female, and to live in urban areas. These findings illustrate the wide range of demographic, clinical, and geographic experiences in the growing VA Hispanic population and demonstrate that culturally competent care for Hispanic Veterans must reflect their intra-ethnic diversity.
Topics: Female; Humans; Male; Middle Aged; Ethnicity; Hispanic or Latino; Minority Groups; Urban Population; Veterans; Veterans Health; Rural Population
PubMed: 36100811
DOI: 10.1007/s40615-022-01406-3 -
Epidemiologic Reviews Dec 2023Although the literature on the differences between Black people and White people in terms of differences in major depressive disorder and related self-reported symptoms... (Review)
Review
Although the literature on the differences between Black people and White people in terms of differences in major depressive disorder and related self-reported symptoms is robust, less robust is the literature on how these outcomes are patterned within the US Black population and why differences exist. Given increased ethnic diversity of Black Americans due to increases in immigration, continued aggregation may mask differences between Black ethnic-immigrant groups and Black Americans with more distant ancestral ties to Africa (African Americans). The purpose of this narrative review was to comprehensively synthesize the literature on depression and related symptoms within the US Black population across immigration- and ethnicity-related domains and provide a summary of mechanisms proposed to explain variation. Findings revealed substantial variation in the presence of these outcomes within the US Black population by nativity, region of birth, age at immigration, and Caribbean ethnic origin. Racial context and racial socialization were identified as important, promising mechanisms for better understanding variations by region of birth and among those born or socialized in the United States, respectively. Findings warrant data collection efforts and measurement innovation to better account for within-racial differences in outcomes under study. A greater appreciation of the growing ethnic-immigrant diversity within the US Black population may improve understanding of how racism differentially functions as a cause of depression and related symptoms within this group.
Topics: Humans; Black People; Depression; Depressive Disorder, Major; Emigration and Immigration; Ethnicity; United States; Black or African American
PubMed: 37310121
DOI: 10.1093/epirev/mxad006 -
American Heart Journal Dec 2023With more than 4.2 million people, Filipino Americans are the third largest Asian group in the US and the largest Southeast Asian group in the country. Despite... (Review)
Review
With more than 4.2 million people, Filipino Americans are the third largest Asian group in the US and the largest Southeast Asian group in the country. Despite relatively favorable average socioeconomic indicators compared to the general US population, Filipino Americans face a significant burden of traditional cardiovascular risk factors, particularly among men. Moreover, Filipino Americans have high rates of cardiovascular death, often occurring at a younger age compared to other minority groups and Non-Hispanic White adults. In view of these trends, in 2010 the American Heart Association designated Filipino Americans as a high cardiovascular risk group. Despite this, in 2023, Filipino Americans remain underrepresented in landmark cardiovascular cohort studies and are often over looked as a group at increased cardiovascular risk. In this updated narrative review, we summarize the current state of knowledge about the burden of cardiovascular risk factors and diseases experienced by the Filipino American population. Our aim is to inform enhanced clinical, population, and policy-level prevention interventions and boost research in this space.
Topics: Adult; Female; Humans; Male; Asian; Cardiovascular Diseases; Cohort Studies; Heart Disease Risk Factors; United States
PubMed: 37544493
DOI: 10.1016/j.ahj.2023.07.015