All of Us Program Illustrates What Less-Diverse Genomics Studies Might Be Missing.

This Medical News story discusses new findings from genomics studies involving diverse cohorts.

Improving genetic risk prediction across diverse population by disentangling ancestry representations.

Risk prediction models using genetic data have seen increasing traction in genomics. However, most of the polygenic risk models were developed using data from participants with similar (mostly European) ancestry. This can lead to biases in the risk predictors resulting in poor generalization when applied to minority populations and admixed individuals such as African Americans. To address this issue, largely due to the prediction models being biased by the underlying population structure, we propose a deep-learning framework that leverages data from diverse population and disentangles ancestry from the phenotype-relevant information in its representation. The ancestry disentangled representation can be used to build risk predictors that perform better across minority populations. We applied the proposed method to the analysis of Alzheimer's disease genetics. Comparing with standard linear and nonlinear risk prediction methods, the proposed method substantially improves risk prediction in minority populations, including admixed individuals, without needing self-reported ancestry information.

Ancestry-driven metabolite variation provides insights into disease states in admixed populations.

BACKGROUND: Metabolic pathways are related to physiological functions and disease states and are influenced by genetic variation and environmental factors. Hispanics/Latino individuals have ancestry-derived genomic regions (local ancestry) from their recent admixture that have been less characterized for associations with metabolite abundance and disease risk. METHODS: We performed admixture mapping of 640 circulating metabolites in 3887 Hispanic/Latino individuals from the Hispanic Community Health Study/Study of Latinos (HCHS/SOL). Metabolites were quantified in fasting serum through non-targeted mass spectrometry (MS) analysis using ultra-performance liquid chromatography-MS/MS. Replication was performed in 1856 nonoverlapping HCHS/SOL participants with metabolomic data. RESULTS: By leveraging local ancestry, this study identified significant ancestry-enriched associations for 78 circulating metabolites at 484 independent regions, including 116 novel metabolite-genomic region associations that replicated in an independent sample. Among the main findings, we identified Native American enriched genomic regions at chromosomes 11 and 15, mapping to FADS1/FADS2 and LIPC, respectively, associated with reduced long-chain polyunsaturated fatty acid metabolites implicated in metabolic and inflammatory pathways. An African-derived genomic region at chromosome 2 was associated with N-acetylated amino acid metabolites. This region, mapped to ALMS1, is associated with chronic kidney disease, a disease that disproportionately burdens individuals of African descent. CONCLUSIONS: Our findings provide important insights into differences in metabolite quantities related to ancestry in admixed populations including metabolites related to regulation of lipid polyunsaturated fatty acids and N-acetylated amino acids, which may have implications for common diseases in populations.

Comparison of the accumulation of toxic metal biomarkers in Asian subgroups and other races in the United States: NHANES 2015-2016.

Toxic metals such as lead (Pb), cadmium (Cd), mercury (Hg) and arsenic (As) that lead to many visceral organ and nervous system diseases have attracted global attention due to their gradual accumulation in human bodies. The tolerance levels of exposure to toxic metals among race/ethnic groups are different due to the variance of sociodemographic, dietary, and behavioral characteristics. Few studies focused on investigating the biomarker levels of toxic metals in different race/ethnic groups and the potential mechanisms for controlling the accumulation in human bodies. Therefore, we selected eight biomarkers for four toxic metals from the National Health and Nutrition and Examination Survey (NHANES) in the 2-year data cycle of 2015-2016 to reveal the accumulation levels in different races. According to the NHANES rules, we applied probability sampling weights. The geometric mean levels of these biomarkers were calculated in all five race/ethnic groups (Mexican American, white, black, Asian, and other Hispanic) and two Asian subgroups (U.S.-born Asian, and other-born Asian), and compared with each other. The results showed that all the biomarkers in other-born Asians were 1.1-6.7 times in blood and 1.1-3.6 times in urine higher than other race/ethnic groups. Except Hg and As, the lowest biomarker levels were recorded in U.S.-born Asians, only 0.6-0.9 times of lead and 0.3-0.8 times of cadmium than other race/ethnic groups. Furthermore, the major factors of higher Hg and As biomarker levels in Asians were dietary intake of seafood and rice, indicating different accumulation mechanisms among Asians and other race/ethnic groups, especially for U.S.-born Asians. These findings provided new insight into a deeper understanding the accumulation of toxic metals and human health.

Eligibility criteria and enrollment of a diverse racial and ethnic population in multiple myeloma clinical trials.

The narrow eligibility criteria may contribute to the underrepresentation of racial and ethnic subgroups in cancer clinical trials. We conducted a retrospective pooled analysis of multicenter global clinical trials submitted to the US Food and Drug Administration between 2006 and 2019 to support the approval of the use of multiple myeloma (MM) therapies that analyze the rates and reasons for trial ineligibility based on race and ethnicity in MM clinical trials. Race and ethnicity were coded per Office of Management and Budget standards. Patients flagged as having screen failures were identified as ineligible. Ineligibility rates were calculated as the percentage of patients who were ineligible compared with the screened population within the respective racial and ethnic subgroups. Trial eligibility criteria were grouped into specific categories to analyze the reasons for trial ineligibility. Black patients (24%) and other (23%) race subgroups had higher ineligibility rates than White patients (17%). The Asian race had the lowest ineligibility rate (12%) among all racial subgroups. Failure to meet the hematologic laboratory criteria (19%) and treatment-related criteria (17%) were the most common reasons for ineligibility among Black patients and were more common in Black patients than in other races. Failure to meet disease-related criteria was the most common reason for ineligibility among White (28%) and Asian (29%) participants. Our analysis indicates that specific eligibility criteria may contribute to enrollment disparities for racial and ethnic subgroups in MM clinical trials. However, the small number of screened patients in the underrepresented racial and ethnic subgroups limits definitive conclusions.

Prevalence of cardiovascular disease among Asian, Pacific Islander and multi-race populations in Hawai'i and California.

BACKGROUND: Cardiovascular disease (CVD) remains the leading cause of death in the US. CVD incidence is influenced by many demographic, clinical, cultural, and psychosocial factors, including race and ethnicity. Despite recent research, there remain limitations on understanding CVD health among Asians and Pacific Islanders (APIs), particularly some subgroups and multi-racial populations. Combining diverse API populations into one study group and difficulties in defining API subpopulations and multi-race individuals have hampered efforts to identify and address health disparities in these growing populations. METHODS: The study cohort was comprised of all adult patients at Kaiser Permanente Hawai'i and Palo Alto Medical Foundation in California during 2014-2018 (n = 684,363). EHR-recorded ICD-9 and ICD-10 diagnosis codes were used to indicate coronary heart disease (CHD), stroke, peripheral vascular disease (PVD), and overall CVD. Self-reported race and ethnicity data were used to construct 12 mutually exclusive single and multi-race groups, and a Non-Hispanic White (NHW) comparison group. Logistic regression models were used to derive prevalence estimates, odds ratios, and confidence intervals for the 12 race/ethnicity groups. RESULTS: The prevalence of CHD and PVD varied 4-fold and stroke and overall CVD prevalence varied 3-fold across API subpopulations. Among Asians, the Filipino subgroup had the highest prevalence of all three CVD conditions and overall CVD. Chinese people had the lowest prevalence of CHD, PVD and overall CVD. In comparison to Native Hawaiians, Other Pacific Islanders had significantly higher prevalence of CHD. For the multi-race groups that included Native Hawaiians and Other Pacific Islanders, the prevalence of overall CVD was significantly higher than that for either single-race Native Hawaiians or Other Pacific Islanders. The multi-race Asian + White group had significantly higher overall CVD prevalence than both the NHW group and the highest Asian subgroup (Filipinos). CONCLUSIONS: Study findings revealed significant differences in overall CVD, CHD, stroke, and PVD among API subgroups. In addition to elevated risk among Filipino, Native Hawaiian, and Other Pacific Islander groups, the study identified particularly elevated risk among multi-race API groups. Differences in disease prevalence are likely mirrored in other cardiometabolic conditions, supporting the need to disaggregate API subgroups in health research.

Long-term survival of patients treated for tuberculosis: a population-based longitudinal study in a resource-poor setting.

OBJECTIVE: We assessed the long-term survival of TB patients belonging to the Saharia tribe, a high TB burden community in Shivpuri district, Madhya Pradesh, central India. METHODS: Population-based, longitudinal study conducted among 9756 Saharia population in 2013, and a resurvey done 2 years later in 2015 using the same methods. The status of the individuals during resurvey was recorded as non-TB, relapse and death. The deaths recorded in this period were used to measure the mortality among TB-affected population and the non-TB population in this cohort. RESULTS: The standardised mortality ratio for the study cohort was 122.9 per 1000 population; males had higher mortality than females (129.9 vs. 96.8). The expected mortality among the non-TB population was 30.2, and the observed mortality among TB-affected population was 122.9 per 1000 population. CONCLUSION: In the Saharia tribe, post-treatment mortality in the TB-affected population is significantly higher than in the general population. This highlights an urgent need for implementation of effective public health strategies to prevent disproportionate deaths among TB-affected individuals in resource-poor settings, and the importance of periodic follow-up of patients after cure/completion of treatment, especially in vulnerable populations.

Assessing Diet Quality of Indigenous Food Systems in Three Geographically Distinct Solomon Islands Sites (Melanesia, Pacific Islands).

Indigenous Solomon Islanders, like many living in Pacific Small Island Developing States (PSIDS), are currently experiencing the global syndemic-the combined threat of obesity, undernutrition, and climate change. This mixed-method study aimed to assess nutrition transitions and diet quality by comparing three geographically unique rural and urban indigenous Solomon Islands populations. Participants in rural areas sourced more energy from wild and cultivated foods; consumed a wider diversity of foods; were more likely to meet WHO recommendations of >400g of non-starchy fruits and vegetables daily; were more physically active; and had significantly lower body fat, waist circumference, and body mass index (BMI) when compared to urban populations. Urban populations were found to have a reduced ability to self-cultivate agri-food products or collect wild foods, and therefore consumed more ultra-processed foods (classified as NOVA 4) and takeout foods, and overall had less diverse diets compared to rural populations. Clear opportunities to leverage traditional knowledge and improve the cultivation and consumption of underutilized species can assist in building more sustainable and resilient food systems while ensuring that indigenous knowledge and cultural preferences are respected.

Population Size Estimation Methods: Searching for the Holy Grail.

Accurate size estimates of key populations (eg, sex workers, people who inject drugs, transgender people, and men who have sex with men) can help to ensure adequate availability of services to prevent or treat HIV infection; inform HIV response planning, target setting, and resource allocation; and provide data for monitoring and evaluating program outcomes and impact. A gold standard method for population size estimation does not exist, but quality of estimates could be improved by using empirical methods, multiple data sources, and sound statistical concepts. To highlight such methods, a special collection of papers in JMIR Public Health and Surveillance has been released under the title "Key Population Size Estimations." We provide a summary of these papers to highlight advances in the use of empirical methods and call attention to persistent gaps in information.

Indigenous engagement in health: lessons from Brazil, Chile, Australia and New Zealand.

BACKGROUND: Given the persistence of Indigenous health inequities across national contexts, many countries have adopted strategies to improve the health of Indigenous peoples. Governmental recognition of the unique health needs of Indigenous populations is necessary for the development of targeted programs and policies to achieve universal health coverage. At the same time, the participation of Indigenous peoples in decision-making and program and policy design helps to ensure that barriers to health services are appropriately addressed and promotes the rights of Indigenous peoples to self-determination. Due to similar patterns of Indigenous health and health determinants across borders, there have been calls for greater global collaboration in this field. However, most international studies on Indigenous health policy link Anglo-settler democracies (Canada, Australia, Aotearoa/New Zealand and the United States), despite these countries representing a small fraction of the world's Indigenous people. AIM: This paper examines national-level policy in Australia, Brazil, Chile and New Zealand in relation to governmental recognition of differential Indigenous health needs and engagement with Indigenous peoples in health. The paper aims to examine how Indigenous health needs and engagement are addressed in national policy frameworks within each of the countries in order to contribute to the understanding of how to develop pro-equity policies within national health care systems. METHODS: For each country, a review was undertaken of national policies and legislation to support engagement with, and participation of, Indigenous peoples in the identification of their health needs, development of programs and policies to address these needs and which demonstrate governmental recognition of differential Indigenous health needs. Government websites were searched as well as the following databases: Google, OpenGrey, CAB Direct, PubMed, Web of Science and WorldCat. FINDINGS: Each of the four countries have adopted international agreements regarding the engagement of Indigenous peoples in health. However, there is significant variation in the extent to which the principles laid out in these agreements are reflected in national policy, legislation and practice. Brazil and New Zealand both have established national policies to facilitate engagement. In contrast, national policy to enable engagement is relatively lacking in Australia and Chile. Australia, Brazil and New Zealand each have significant initiatives and policy structures in place to address Indigenous health. However, in Brazil this is not necessarily reflected in practice and although New Zealand has national policies these have been recently reported as insufficient and, in fact, may be contributing to health inequity for Maori. In comparison to the other three countries, Chile has relatively few national initiatives or policies in place to support Indigenous engagement or recognise the distinct health needs of Indigenous communities. CONCLUSIONS: The adoption of international policy frameworks forms an important step in ensuring that Indigenous peoples are able to participate in the formation and implementation of health policy and programs. However, without the relevant principles being reflected in national legislature, international agreements hold little weight. At the same time, while a national legislative framework facilitates the engagement of Indigenous peoples, such policy may not necessarily translate into practice. Developing multi-level approaches that improve cohesion between international policy, national policy and practice in Indigenous engagement in health is therefore vital. Given that each of the four countries demonstrate strengths and weaknesses across this causal chain, cross-country policy examination provides guidance on strengthening these links.

Attitudes toward epilepsy in East Malaysia using the Public Attitudes Toward Epilepsy (PATE) scale.

BACKGROUND: Epilepsy stigma is an important issue affecting people with epilepsy (PWE) in various social aspects of life. Most studies on stigma were among the metropolitan population but rarely on indigenous people. Hence, this study aimed to understand the attitudes toward epilepsy of the East Malaysians, comparing with the West Malaysians previously reported. METHOD: This study was performed among the indigenous people in Kuching and Sibu (Sarawak) and Kota Kinabalu (Sabah) using the Public Attitudes Toward Epilepsy (PATE) scale. A higher score indicates poorer attitude. RESULT: A total of 360 respondents (41.7% Kadazan-Dusun, 30.6% Bidayuh, and 24.7% Iban) aged 34.6 ±â€¯12.6 years completed the questionnaire. They were predominantly females and had lower education level and income compared with the West Malaysians. The Sabah population had significantly lower mean scores (better attitudes) than those in Sarawak, in both personal and general domains (p < .001). As compared with West Malaysia, the mean score in the personal domain was significantly lower in Sabah, while Sarawak had significantly higher scores in general domain (p < .001). Subanalysis showed that the Sabah population had better attitudes toward marriage and employment in PWE than the West Malaysians, whereas Sarawak had poorer attitudes toward education and social contact in PWE. CONCLUSION: The attitudes toward epilepsy were different among the indigenous populations in Sabah and Sarawak, and from the West Malaysians, which could be attributable to their sociocultural differences.

Cardiovascular risk factors: differences between ethnic groups.

OBJECTIVES: to compare the metabolic, anthropometric, tobacco and alcohol consumption indicators considered as risk factors for cardiovascular diseases, as well as the demographic and socioeconomic characteristics between indigenous from Rio Negro, Sateré-Mawé, mixed-race/black and white people living in the city of Manaus. METHODS: a cross-sectional observational study guided by the STROBE tool. There was a sample of 191 adults of both sexes. Anthropometric measurements, blood pressure and biochemical analyzes were performed. Statistical test was applied to cross color/race/ethnicity variable with the investigated variables. RESULTS: indigenous had better metabolic and anthropometric indicators related to cardiovascular diseases than mixed-race/black and white, as well as Sateré-Mawé in relation to Rionegrinos (from Rio Negro). CONCLUSIONS: the main differences were obesity, dyslipidemia, pre-systemic arterial hypertension/systemic arterial hypertension, and increased circumferences, with a worse situation for mixed-race/black people. The findings indicate differences in risk factors between race/color and ethnicity groups evaluated.

School-based interventions for preventing substance use in indigenous children ages 7-13: a scoping review protocol.

INTRODUCTION: Throughout the world, indigenous peoples share traumatic colonial experiences that have caused gross inequalities for them and continue to impact every aspect of their lives. The effect of intergenerational trauma and other health disparities have been remarkable for Indigenous children and adolescents, who are at a greater risk of adverse mental health and addiction outcomes compared with non-indigenous people of the same age. Most indigenous children are exposed to addictive substances at an early age, which often leads to early initiation of substance use and is associated with subsequent physical and mental health issues, poor social and relational functioning, and occupational and legal problems. The aim of this paper is to report the protocol for the scoping review of school-based interventions for substance use prevention in Indigenous children ages 7-13 living in Canada, the USA, Australia and New Zealand. This scoping review seeks to answer the following questions: (1) What is known about indigenous school-based interventions for preventing substance use and (2) What are the characteristics and outcomes of school-based interventions for preventing substance use? METHODS AND ANALYSIS: This scoping review will use steps described by Arksey and O'Malley and Levac: (1) identifying the research question(s); (2) identifying relevant studies; (3) selecting the studies; (4) charting the data; (5) collating, summarising and reporting the results and (6) consulting with experts. Our findings will be reported according to the guidelines set by the Preferred Reporting Items for Systematic Reviews and Meta-Analyses extension for Scoping Reviews. ETHICS AND DISSEMINATION: Ethics review approval is not required for this project. Findings from this study will be presented to lay public, at scientific conferences and published in a peer-reviewed journal.

Colorectal cancer screening using faecal occult blood tests for Indigenous adults: A systematic literature review of barriers, enablers and implemented strategies.

OBJECTIVE: Colorectal cancer (CRC) screening using a Faecal Occult Blood Test (FOBT) is a well-established population intervention to reduce mortality and morbidity of CRC. As Indigenous people are not fully benefiting from the screening programs, a greater understanding of barriers and enablers affecting participation is needed. METHODS: Searches were carried out in PubMed, Embase, Sociological Abstracts, Scopus, CINAHL, and selected websites. Both qualitative and quantitative studies related to Indigenous populations of Canada, New Zealand, Australia and the United States of America were assessed for quality and data related to FOBT were extracted and synthetised. RESULTS: A total of 375 publications were identified and screened against the inclusion/exclusion criteria. Thirty-four studies were included in the review. The barriers for participation in CRC screening included the lack of culturally competent health service access, particularly access to Indigenous health service providers. Medical discrimination, long-standing distrust in Western medicine and/or health staff and screening tests were all identified as barriers for Indigenous people. There were a small number of promising interventions to improve participation, which could be considered on a broader scale to increase overall participation by Indigenous people in CRC screening. CONCLUSIONS: The review identified barriers and possible enablers for Indigenous participation in the CRC screening program, some which appear to be unique to Indigenous people. Further intervention studies conducted in partnership with Indigenous communities are needed to improve participation.

Association between vitamin D deficiency and common variants of Vitamin D binding protein gene among Mexican Mestizo and indigenous postmenopausal women.

PURPOSE: Vitamin D deficiency (VDD) and polymorphisms in the group-specific component (GC) gene are known to be associated in different populations. However, the effects of such genetic variants may vary across different populations. Thus, the objective of this study was to estimate the association between Vitamin D-Binding Protein (VDBP) haplotypes and VDD in mestizo postmenopausal women and Mexican Amerindian ethnic groups. METHODS: This was a cross-sectional study of 726 postmenopausal Mexican women from the Health Workers Cohort Study (HWCS) and 166 postmenopausal women from the Metabolic Analysis in an Indigenous Sample (MAIS) cohort in Mexico. GC polymorphisms (rs7045 and rs4588) were analyzed by TaqMan probes. Serum 25-hydroxyvitamin D [25(OH)D] levels were measured by Chemiluminescent Microparticle Immuno Assay. RESULTS: The prevalence of VDD serum 25(OH)D < 20 ng/mL was 43.7% in mestizo women and 44.6% in indigenous women. In HWCS, the single nucleotide polymorphisms (SNPs) rs7041 and rs4588 were associated with VDD. In addition, women from the HWCS, carrying the haplotypes GC2/2 and GC1f/2 had higher odds of VDD (OR = 2.83, 95% CI 1.14, 7.02; and OR = 2.30, 95% CI 1.40, 3.78, respectively) compared to women with haplotype 1f/1 s. These associations were not statistically significant in the MAIS cohort. CONCLUSIONS: Our results show genetic association of the analyzed SNPs and related haplotypes, on the GC gene, with VDD in mestizo Mexican postmenopausal women. Moreover, a high prevalence of VDD with high genetic variability within the country was observed. Our results support the need for national policies for preventing VDD.

Developmental and Sexual Offense Onset Characteristics of Australian Indigenous and Non-Indigenous Male Youth Who Sexually Offend.

The present study sought to address gaps in knowledge concerning Australian Indigenous and non-Indigenous youth who commit sexual offenses. Developmental histories and onset sexual offense characteristics of Indigenous (n = 81) and non-Indigenous (n = 130) adjudicated male youth were compared. Results indicate that, in addition to problems affecting both groups, Indigenous youth in this sample were disproportionately exposed to systemic vulnerabilities (e.g., familial antisocial attitudes and incarceration, engagement with antisocial peers, poor school engagement and voluntary school dropout, low socioeconomic status) associated with onset of sexual offending. Differences in the circumstances and context surrounding the onset sexual offense (e.g., use of drugs/alcohol, relationship to person harmed, co-offending, age of person harmed, location, threats/force) were also found. When these analyses were stratified by age of person harmed, these differences were retained only for offenses against children below 16 years. Together, these findings highlight the need for more contextualized primary-, secondary-, and tertiary-level prevention efforts to reduce youth sexual offending in Australia and elsewhere.

"Something Born of the Heart": Culturally Affiliated Illnesses of Older Adults in Oaxaca.

This qualitative research identifies and analyzes emotions and interventions linked to affective experiences and cultural aspects of health/illness/care processes in 219 older adults of eight Indigenous groups in Oaxaca, Mexico. Life stories are examined from perspectives of cultural gerontology, anthropology of emotions and critical medical anthropology with a gender perspective. Significance and healing of two illnesses of cultural affiliation: tiricia (sadness of the soul) and envidia (rancor against the successful) are examined. Conditions other than diabetes and hypertension are healed by traditional remedies or spiritual cleansings. Examining tiricia and envidia permit improved knowledge and understanding of the emotional culture and the community.

Boletim Epidemiológico COVID-2019 (RS): semana epidemiológica (SE) de 24 e 2020 Resumido / Epidemiological Bulletin COVID-2019 (RS): epidemiological week (SE) 24, 2020 Summarized

Neste boletim são apresentados: situação mundial, ocorrência de hospitalizações confirmadas para sars-cov-2, perfil das pessoas, distribuição espacial, Síndrome Inflamatória Multissistêmica Pediátrica (SIM-P), povos indígenas, descrição de surtos, trabalhadores da saúde, Vigilância sentinela de síndrome gripal e tabelas de descrição do surto. (AU)

Boletim Epidemiológico COVID-2019 (RS): semana epidemiológica (SE) de 23 de 2020 / Epidemiological Bulletin COVID-2019 (RS): epidemiological week (SE) 23, 2020

Neste boletim são apresentados: situação mundial, ocorrência de hospitalizações confirmadas para sars-cov-2, perfil das pessoas, distribuição espacial, Síndrome Inflamatória Multissistêmica Pediátrica (SIM-P), povos indígenas, descrição de surtos, trabalhadores da saúde, Vigilância sentinela de síndrome gripal e tabelas de descrição do surto. (AU)