535 hot topic(s) found with the query "Disparities"
Harnessing big data for health equity through a comprehensive public database and data collection framework.
Cameron Sabet et al. NPJ Digit Med 2023 5 (1) 91
(Posted: May-23-2023 11AM)
We examine the reasons behind the delayed adoption of big data for healthcare equity, recent efforts embracing big data tools, and methods to maximize potential without overburdening physicians. We additionally propose a public database for anonymized patient data, introducing diverse metrics and equitable data collection strategies, providing valuable insights for policymakers and health systems to better serve communities.
Embracing Diversity, Equity, and Inclusion in Genetics Textbooks and Testing
R Lewis, PLOS Blogs, April 2023
(Posted: May-04-2023 6AM)
The Association of Reported Experiences of Racial and Ethnic Discrimination in Health Care with COVID-19 Vaccination Status and Intent - United States, April 22, 2021-November 26, 2022.
Laurie D Elam-Evans et al. MMWR Morb Mortal Wkly Rep (16) 437-444
(Posted: Apr-21-2023 6AM)
There is a growing awareness of racism as a cause of health inequities, health disparities, and disease. Adults reporting experiences of racial and ethnic discrimination in health care had a significantly higher prevalence of being unvaccinated against COVID-19 overall and among most racial and ethnic groups.
Clinical, technical, and environmental biases influencing equitable access to clinical genetics/genomics testing: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
DR Matalon et al, Genetics in Medicine, April 14, 2023
(Posted: Apr-14-2023 9AM)
As genetic testing becomes increasingly endorsed by the medical community and available to the public, a working group formed by members of the Social, Ethical and Legal Issues and Diversity, Equity and Inclusion committees of the American College of Medical Genetics and Genomics (ACMG) developed this document in an effort to address current factors in which bias can occur in clinical genetic testing and within the medical genetics profession, with the goal of fostering awareness and identifying strategies to reduce bias and improve health equity.
Addressing Equity, Diversity, and Inclusion in the Conduct and Reporting of Genetics Research.
Kara S Bagot et al. JAMA psychiatry 2023 4
(Posted: Apr-08-2023 0PM)
Genetic research has often failed to address heterogeneity on a population level, with lack of sustained efforts by researchers and funding agencies to ensure diverse representation among cohorts in genetics studies and in biobanks. We encourage researchers to engage heterogeneous, representative cohorts in genetics research. This will not only improve generalizability of findings but also provide greater understanding of mechanisms of disease among the diverse communities that psychiatrists engage and treat, thus improving health outcomes on the population level.
Ferrying Oncologists Across the Chasm of Interpreting Biomarker Testing Reports: Systematic Support Needed to Improve Care and Decrease Disparities.
Howard Jack West et al. JCO oncology practice 2023 3 OP2300010
(Posted: Apr-03-2023 7AM)
Precision oncology is predicated on testing of tumor tissue or circulating tumor DNA to develop a molecular profile from which an optimal therapeutic approach can be determined. Unfortunately, real-world execution of this concept is fraught with challenges, including insufficient tumor tissue for analysis, prohibitively long turnaround times, inconsistent availability of results, and challenges in interpretation of the testing reports—all before optimally selected treatment can even be prescribed and administered to the patient.
Equity implications of patient-initiated recontact and follow-up in clinical genetics
MP Mackley et al, EJHG, March 23, 2023
(Posted: Mar-23-2023 6AM)
Moving forward, as policies and practices are updated, the equity implications of a shared model of responsibility in recontact (and follow-up) must be carefully considered. As it stands, the aspirational shared model is not shared equally: patients are driving recontact in clinical genetics. As a result, there is a disconnect between the potential for recontact—if systematic—to promote equity in genetic testing and the inconsistent patient-initiated product.
Sickle Cell Data Collection Program
CDC, March 2023
(Posted: Mar-20-2023 2PM)
This notice of funding opportunity allows recipients to gather unique data and conduct in-depth analyses to inform their sickle cell disease (SCD) efforts and to compare and contrast SCD-related health care and health outcomes across states and across population groups. Each state has a unique demographic makeup, health disparities, distinct health care policies, and challenges related to access to care; all of these factors play a large role in the outcomes and experiences of individuals with SCD.
Using Population Descriptors in Genetics and Genomics Research: A New Framework for an Evolving Field
NASEM Report, March 2023,
(Posted: Mar-16-2023 1PM)
Genetic and genomic information has become far more accessible, and research using human genetic data has grown exponentially over the past decade. Genetics and genomics research is now being conducted by a wide range of investigators across disciplines, who often use population descriptors inconsistently and/or inappropriately to capture the complex patterns of continuous human genetic variation. The report focuses on understanding the current use of population descriptors in genomics research, examining best practices for researchers, and identifying processes for adopting best practices within the biomedical and scientific communities.
2022 ASHG presidential address-One human race: Billions of genomes.
Charles N Rotimi et al. American journal of human genetics 2023 3 (3) 398-401
(Posted: Mar-04-2023 9AM)
Genomics-driven scientific and medical innovations are currently not shared equitably by all human populations with the resulting well-documented global challenge of lack of diversity in both the participants and scientists that are engaged in genomic sciences. If not urgently and systematically addressed, these challenges will likely compromise our goal and vision that “people everywhere realize the benefits of human genetics and genomics research.”
On the report of the ASHG "Facing Our History-Building an Equitable Future" initiative.
et al. American journal of human genetics 2023 3 (3) 375-376
(Posted: Mar-04-2023 9AM)
As the community’s oldest and largest professional society, ASHG has been late in making explicit efforts to integrate equity, diversity, and inclusion into its values, programs, and voice. The Society affirmatively seeks to reckon with, and sincerely apologizes for, its involvement in and silence on the misuse of human genetics research to justify and contribute to injustices in all forms.
Association of Social Determinants and Tumor Biology With Racial Disparity in Survival From Early-Stage, Hormone-Dependent Breast Cancer.
Kent F Hoskins et al. JAMA oncology 2023 2
(Posted: Feb-18-2023 8AM)
What are the relative contributions of social determinants of health and tumor biology to racial disparities in cancer-related death among Black and White women with estrogen receptor–positive, axillary node-negative breast cancer. Racial differences in indicators of aggressive tumor biology that included a genomic biomarker mediated the same proportion of the survival disparity as individual and neighborhood disadvantage. Disproportionately aggressive tumor biology among Black women may be an important driver of racial disparities in survival from estrogen receptor–positive, early-stage breast cancer.
Primary care physician use of patient race and polygenic risk scores in medical decision-making
BJ Kerman et al, Genetics in Medicine, February 6, 2023
(Posted: Feb-06-2023 9AM)
The use of patient race in medicine is controversial for its potential either to exacerbate or address health disparities. Polygenic risk scores (PRS) have emerged as a tool for risk stratification models used in preventive medicine. We examined whether PRS results impact primary care physician (PCP) medical decision-making and whether that impact varies by patient race. The study shows that despite advances in precision risk stratification, physicians will likely continue to use patient race implicitly or explicitly in medical decision-making.
Psychiatry pharmacogenomics: Africans are not at the table.
Frances Adiukwu et al. The lancet. Psychiatry 2023 1 (2) 80
(Posted: Feb-03-2023 7AM)
Pharmacogenomic studies have the potential to change psychiatric practice, for example by advancing precision medicine in determining medication effectiveness and thereby reducing the need for trial and error. However, the African population is under-represented with regard to data and research participation in this field, with limited output, knowledge, and clinical applicability of pharmacogenomic evidence in Africa.
Equity and inclusivity in research
AJHG February 2023
(Posted: Feb-02-2023 11AM)
A deep understanding of human health and biology is made possible by rapid advances in genomics technology. However, the equitable application of genetic discoveries in healthcare and society will require active engagement with and empowerment of populations who, for too long, have been underrepresented in genetics and genomics research. In this collection, we highlight recent research and commentary that chart a course for centering inclusivity in human genetics and genomics.
Could Africa be the future for genomics research?
Z Lombard et al, Nature, January 31, 2023
(Posted: Jan-31-2023 8AM)
Although various enterprises have supported cutting-edge human genomics in Africa, the Human Heredity and Health in Africa (H3Africa) initiative2, which supported this work, has probably contributed the most in terms of infrastructure and training. The US$176-million programme began in 2010, funded by the US National Institutes of Health (NIH) and the UK biomedical charity Wellcome (in partnership with the African Society of Human Genetics). Projects have ranged from population-based genomic studies of common disorders, such as heart disease, to investigations of infectious diseases, such as COVID-19.
STATEMENT American Society of Human Genetics Board of Directors On The Report of the ASHG Facing Our History – Building an Equitable Future Initiative
ASHG, January 23, 2023
(Posted: Jan-26-2023 6AM)
The American Society of Human Genetics (ASHG)—and the research community it supports—believes in the power of human genetics to advance science, health, and society. However, ASHG and the field have failed to acknowledge, fully and consistently, the misuse of human genetics to serve unjust ends or take action to denounce such use.
Disparities According to Genetic Ancestry in the Use of Precision Oncology Assays.
Douglas A Mata et al. The New England journal of medicine 2023 1 (3) 281-283
(Posted: Jan-25-2023 8AM)
Modern oncology care relies on the assessment of tumor genomic profiles. Although it is known that there are racial and ethnic disparities in cancer outcomes, evidence regarding disparities in access to this increasingly important step in cancer diagnosis and treatment is lacking.1 We examined the use of next-generation sequencing assays according to genetic ancestry of patients in a large cancer genomics database.
Racial and ethnic disparities in a real-world precision oncology data registry.
Cheung Alexander T M et al. NPJ precision oncology 2023 1 (1) 7
(Posted: Jan-23-2023 1PM)
Our analysis of Project Genomics Evidence Neoplasia Information Exchange (GENIE), a real-world cancer data registry designed to accelerate precision oncology discovery, indicates that minorities do not have sufficient representation, which may impact the validity of studies directly comparing mutational profiles between racial/ethnic groups and limit generalizability of biomarker discoveries to all populations.
Advancing Genomic Medicine in Africa: Work in Progress
J Osei et al, CDC Blog Post, January 9, 2023
(Posted: Jan-11-2023 6AM)
Continued progress in genomic medicine to improve public health in Africa will require local-level capacity, expertise, and partnerships to conduct research and to assure the safe and equitable implementation of the field’s initiatives. Broad support from all interested parties including national and international governing authorities is crucial to guarantee the long-term sustainability of GM initiatives on the continent.
Words matter: The language of difference in human genetics
MK Cho et al, Genetics in Medicine, December 15, 2022
(Posted: Dec-16-2022 9AM)
Diversity, equity, and inclusion efforts in academia are leading publishers and journals to re-examine their use of terminology for commonly used scientific variables. This reassessment of language is particularly important for human genetics, which is focused on identifying and explaining differences between individuals and populations. Even though norms of acceptable language use are ever changing, it is the responsibility of genetics professionals to uncover biases ingrained in professional practice and training and to continually reassess the words we use to describe human difference because they cause harm to patients.
Associations between area-level health-related social factor indices and risk of acute COVID-19: An EHR-based cohort study from the RECOVER program
DJ Chisolm et al, MEDRXIV, December 3, 2022
(Posted: Dec-04-2022 9AM)
Both area deprivation index (ADI) and child opportunity index (COI) were significantly associated with COVID-19 positivity in univariate and adjusted models, particularly in the pre-delta and delta variant waves. ADI showed a stronger association. Higher rates of positivity were found for non-Hispanic Black, Hispanic, and multi-racial children compared to non-Hispanic White children. These racial disparities remained significant after control for either index and other variables.
A scoping review of guidelines for the use of race, ethnicity, and ancestry reveals widespread consensus but also points of ongoing disagreement.
Mauro Madelyn et al. American journal of human genetics 2022 11
(Posted: Nov-22-2022 8AM)
Examined recommendations fall under one of eight themes identified during analysis. Seven are characterized by broad agreement across articles; one, “appropriate definitions of population categories and contexts for use,” revealed substantial fundamental disagreement among articles. Additionally, while many articles focus on the inappropriate use of race, none fundamentally problematize ancestry.
Global disparities in SARS-CoV-2 genomic surveillance.
Brito Anderson F et al. Nature communications 2022 11 (1) 7003
(Posted: Nov-19-2022 7AM)
In the first two years of the pandemic, 78% of high-income countries sequenced >0.5% of their COVID-19 cases, while 42% of low- and middle-income countries reached that mark. Around 25% of the genomes from high income countries were submitted within 21 days, a pattern observed in 5% of the genomes from low- and middle-income countries. We found that sequencing around 0.5% of the cases, with a turnaround time <21 days, could provide a benchmark for SARS-CoV-2 genomic surveillance. Socioeconomic inequalities undermine the global pandemic preparedness.
New Report Examines Diversity in the Human Genetics and Genomics Workforce
ASHG, November 10, 2022
(Posted: Nov-11-2022 8AM)
The American Society of Human Genetics (ASHG) today released the Human Genetics & Genomics Workforce Survey Report, which takes an in-depth look at the field’s workforce demographics, including race, ethnicity, or ancestry; gender identity; sexual orientation; age; disability status; and disadvantaged background. The new report draws on a first-of-its-kind survey of 4,367 respondents outlining their education, employment, training, and career experiences.
This is milestone report that illuminates the disparities and inequities within the genomics workforce.
Disparity in checkpoint inhibitor utilization among commercially insured adult patients with metastatic lung cancer.
Li Meng et al. Journal of the National Cancer Institute 2022 11
(Posted: Nov-11-2022 6AM)
We identified metastatic lung cancer patients diagnosed between 2015 and 2020 from a large nationwide commercial claims database. We analyzed the time from metastatic lung cancer diagnosis to ICI therapy using Cox proportional hazard models. We found that commercially insured patients with metastatic lung cancer who lived in counties with greater percentage of racialized population had slower initiation of ICI therapy after lung cancer diagnosis, despite greater density of oncologists in their neighborhood.
Genetic determinants for the racial disparities in the risk of prostate and testicular cancers
I Uzamere et al, Comm Med, November 2, 2022
(Posted: Nov-02-2022 6AM)
It has been observed that men of African ancestry have a higher incidence of prostate cancer and lower incidence of testicular cancer compared to men of European ancestry. However, little is known about underlying mechanisms accounting for these observations. The current study compares frequencies of all genetic alterations associated with risks of prostate cancer or testicular cancer between the two racial groups. Our findings suggest that differences in the frequencies of genetic alterations between the groups may help to explain the racial disparities in the risk of prostate and testicular cancers.
Racial and Ethnic Disparities in Outpatient Treatment of COVID-19 - United States, January-July 2022.
Boehmer Tegan K et al. MMWR. Morbidity and mortality weekly report 2022 10 (43) 1359-1365
(Posted: Oct-30-2022 10AM)
Outpatient medications are effective at preventing severe COVID-19 and are important to pandemic mitigation. Paxlovid is the most commonly prescribed medication and the preferred outpatient therapeutic for eligible patients. Racial and ethnic disparities persisted in outpatient COVID-19 treatment through July 2022. During April–July 2022, the percentage of COVID-19 patients aged =20 years treated with Paxlovid was 36% and 30% lower among Black and Hispanic patients than among White and non-Hispanic patients, respectively. These disparities existed among all age groups and patients with immunocompromise.
Socioeconomic inequalities in molecular risk for chronic diseases observed in young adulthood.
Shanahan Michael J et al. Proceedings of the National Academy of Sciences of the United States of America 2022 10 (43) e2103088119
(Posted: Oct-18-2022 7AM)
Data come from the National Longitudinal Study of Adolescent to Adult Health (Add Health), a large, nationally representative sample of US subjects who were followed for over two decades beginning in adolescence. We now have transcriptomic data (mRNA-seq) from a random subset of 4,543 of these young adults. SES in the household-of-origin and in young adulthood were examined as covariates of a priori-defined mRNA-based disease signatures and of specific gene transcripts identified de novo. An SES composite from young adulthood predicted many disease signatures, as did income and subjective status. Analyses highlighted SES-based inequalities in immune, inflammatory, ribosomal, and metabolic pathways, several of which play central roles in senescence.
From All of Us Research to All of Us in the Real World
CDC September 29 webinar, 1-hour video
(Posted: Oct-06-2022 3PM)
Through a Data Use Agreement with the All of Us Research Program, scientists at the Centers for Disease Control and Prevention can now register to access and analyze All of Us Research Program Data through a cloud platform. This webinar reviewed the All of Us Research Program study design and current status, discussed its potential for providing important population data to inform implementation of disease prevention and to reduce health disparities and provided a training session for scientists interested in accessing and analyzing All of Us Data.
Addressing racial disparities in surgical care with machine learning
J Halamka et al, NPJ Digital Medicine, September 30, 2022
(Posted: Oct-03-2022 6AM)
While inequalities will require numerous cultural, ethical, and sociological solutions, artificial intelligence-based algorithms may help address the problem by detecting bias in the data sets currently being used to make medical decisions. However, such AI-based solutions are only in early development.
Racial Disparities in Pulse Oximeter Device Inaccuracy and Estimated Clinical Impact on COVID-19 Treatment Course.
Sudat Sylvia E K et al. American journal of epidemiology 2022 9
(Posted: Oct-02-2022 8AM)
Pulse oximetry systematically overestimated blood oxygenation by 1% more in NHB individuals than in NHW individuals. For people with COVID-19, this was associated with lower admission probability (-3.1 percentage-points), dexamethasone treatment (-3.1 percentage-points), and supplemental oxygen treatment (-4.5 percentage-points), as well as increased time-to-treatment: +37.2 minutes before dexamethasone initiation and +278.5 minutes before initiation of supplemental oxygen.
Racial disparities in COVID-19 outcomes: Unwarranted statistical adjustments and the perpetuation of stereotypes
SP Massion et al, Lancet Regional Health, September 2022
(Posted: Sep-15-2022 6AM)
By clarifying the hypothesized role of race in research investigations and employing appropriate statistical causal methodologies, researchers can avoid stigmatizing consequences and maintain the focus on the conditions and situations that may be the underlying causes of the observed disparities in SARS-CoV-2 infections and related outcomes. Identifying the underlying and modifiable factors that contribute to increased risk of SARS-CoV-2 infection among minoritized populations is essential for addressing disparities.
Genomics, Health Equity, and Global Health
J Osei et al, CDC Blog Post, September 12, 2022
(Posted: Sep-12-2022 1PM)
The World Health Organization’s Science Council recently issued its first report on accelerating access to genomics for global health. The report makes a strong case for less-resourced countries to gain access to such technologies. The report makes clear that new genomic technologies should be available to all, not just a few privileged regions. The report calls for a robust roadmap for using genomic technologies to improve global health. A multi-faceted approach that fosters health equity and enhances capacity development will be crucial for this journey.
Social and scientific motivations to move beyond groups in allele frequencies: The TOPMed experience.
Nelson Sarah C et al. American journal of human genetics 2022 9 (9) 1582-1590
(Posted: Sep-04-2022 8AM)
The NHLBI Trans-Omics for Precision Medicine (TOPMed) program considered the scientific and social implications of different approaches for adding stratified frequencies to the TOPMed BRAVO (Browse All Variants Online) variant server. We recommend a novel approach of presenting ancestry-specific allele frequencies using a statistical method based upon local genetic ancestry inference.
Subpopulation-specific machine learning prognosis for underrepresented patients with double prioritized bias correction
S Afrose et al, Comm Medicine, September 1, 2022
(Posted: Sep-01-2022 2PM)
Biases exist in the widely accepted one-machine-learning-model-fits-all-population approach. We invent a bias correction method that produces specialized machine learning prognostication models for underrepresented racial and age groups. This technique may reduce potentially life-threatening prediction mistakes for minority populations.
Environmental Justice Index
ATSDR, August 2022
(Posted: Aug-18-2022 1PM)
The Environmental Justice Index uses data from the U.S. Census Bureau, the U.S. Environmental Protection Agency, the U.S. Mine Safety and Health Administration, and the U.S. Centers for Disease Control and Prevention to rank the cumulative impacts of environmental injustice on health for every census tract. Census tracts are subdivisions of counties for which the Census collects statistical data. The EJI ranks each tract on 36 environmental, social, and health factors and groups them into three overarching modules and ten different domains.
A framework for digital health equity
S Richardson, NPJ Digital Medicine, August 18, 2022
(Posted: Aug-18-2022 1PM)
We present a comprehensive Framework for Digital Health Equity, detailing key digital determinants of health (DDoH), to support the work of digital health tool creators in industry, health systems operations, and academia. The rapid digitization of healthcare may widen health disparities if solutions are not developed with these determinants in mind. We examine DDoHs at the individual, interpersonal, community, and societal levels, and discuss the importance of a root cause, multi-level approach.
Disparities in distribution of COVID-19 vaccines across US counties: A geographic information system-based cross-sectional study.
Hernandez Inmaculada et al. PLoS medicine 2022 7 (7) e1004069
(Posted: Aug-04-2022 10AM)
Equity in the distribution of Coronavirus Disease 2019 (COVID-19) vaccine is of major relevance. It is unknown whether there were differences in the distribution of COVID-19 vaccines to healthcare facilities depending on the demographic composition of the population. What did the researchers do and find?
We tested whether healthcare facilities serving minority or disadvantaged neighborhoods were less likely to administer COVID-19 vaccines in the early phase of the COVID-19 vaccine rollout process. We found that healthcare facilities in counties with higher Black composition, in rural areas, and in hardest-hit communities were less likely to administer COVID-19 vaccines in May 2021.
Improving access to genetic services for underserved populations: Amish, Mennonite, and other Plain communities
A Kantipuly et al, CDC Blog Post, August 3, 2022
(Posted: Aug-04-2022 8AM)
Lack of access to genetic services in rural areas could contribute to disparities in quality of care, but tailored approaches can overcome some barriers and improve care. Here we present the example of the Midwest Genetics Network (MGN) outreach with the Plain communities.
CFTR genotype analysis of Asians in international registries highlights disparities in the diagnosis and treatment of Asian patients with cystic fibrosis.
Vaidyanathan Sriram et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 7
(Posted: Jul-21-2022 7AM)
Cystic fibrosis (CF) is not well-characterized in Asians, potentially resulting in delayed diagnosis and poor prognosis. We characterized CF in Asian subgroups to address these disparities. The prevalence of CF was 1 in 74,982 people (Canada) to 1 in 13,340 people (United Kingdom) for South Asians and 1 in 256,541 (Canada) to 1 in 52,563 (United Kingdom) for other Asians, suggesting 26,000 to 146,000 patients with CF in South Asia. p.(F508del) variant was markedly less frequent in Asians than in non-Hispanic Whites. Splicing and nonsense variants occurred at high allelic frequencies in Asians, resulting in 41% to 49% of South Asians and 21% to 39% of other Asians being ineligible for CFTR modulator therapies. Hologic/EU2v1 panels failed to identify 37% to 47% of South Asian and 23% to 46% of other Asian patients with CF.
From All of Us Research to All of Us in the Real World: Using the All of Us Research Program Data to Improve Population Health
CDC Webinar, September 29, 2022
(Posted: Jul-07-2022 1PM)
Through a Data Use Agreement with the All of Us Research Program, scientists at the Centers for Disease Control and Prevention can now register to access and analyze All of Us Research Program Data through a cloud platform. In this seminar we will: 1) Review the All of Us Research Program study design and current status, 2) Discuss its potential for providing important population data to inform implementation of disease prevention and to reduce health disparities and 3) Provide a hands-on training session for scientists interested in accessing and analyzing All of Us Data.
Virtual Workshop on Integrating Climate and Environmental Data and Justice into the All of Us Research Program
NIH, All of Us Research Program Workshop, July 28-29, 2022
(Posted: Jun-28-2022 0PM)
The goal of this workshop is to discuss innovative project ideas for potential Ancillary Studies between the All of Us Research Program and the National Institute for Environmental Health Sciences. An ‘Ancillary Study’ is one that creates a new data type for All of Us by virtue of the question(s) it aims to answer. Ancillary Studies may also add new participants to the program. Workshop participants will also discuss environmental exposures or data linkages that should be considered for collection in the entire All of Us cohort.
Potential sources of dataset bias complicate investigation of underdiagnosis by machine learning algorithms
M Bernhardt et al, Nature Medicine, June 16, 2022
(Posted: Jun-16-2022 0PM)
An increasing number of reports raise concerns about the risk that machine learning algorithms could amplify health disparities due to biases embedded in the training data. We argue that the experimental setup in the study is insufficient to study algorithmic underdiagnosis. In the absence of specific knowledge (or assumptions) about the extent and nature of the dataset bias, it is difficult to investigate model bias. Importantly, their use of test data exhibiting the same bias as the training data (due to random splitting) severely complicates the interpretation of the reported disparities.
Bringing diversity to the reference genome
C Babb de Villiers, PHG Foundation, blog post, June 2022
(Posted: Jun-16-2022 7AM)
The genomes of different individuals and populations harbour a wealth of information on humanity’s responses to historical environmental and biological pressures. Some of these genetic differences have no effect on a person’s health while others can have a profound effect. It is this molecular diversity that underlies genetic disorders, inherited traits and disease susceptibility. Diversity in genomic research has numerous benefits ranging from novel insights into health disparities, better understanding of human biology, improving clinical care, and informing genetic diagnosis.
Unpacking race and ethnicity in African genomics research.
Yéré Henri-Michel et al. Nature reviews. Genetics 2022 6
(Posted: Jun-13-2022 11AM)
In genomics, both the denomination ‘African’ as well at the ethnic groups living in Africa have been treated as true biological identities. Yet, similar to race, these population groupings too are social constructs. We argue that using African ethnicities as population categories in genomics research is uninformed and propose an Africa-oriented humanities research agenda to critique and support genomic science.
COVID-19 Vaccination Coverage, by Race and Ethnicity — National Immunization Survey Adult COVID Module, United States, December 2020–November 2021
JL Kriss et al, MMWR, June 10, 2022
(Posted: Jun-10-2022 7AM)
Racial and ethnic minority groups have been disproportionately affected by the COVID-19 pandemic. Vaccination is effective in preventing COVID-19 infection and severe illness, and equitable vaccine administration can reduce COVID-19–related disparities. Asian and non-Hispanic White adults had the highest COVID-19 vaccination coverage by the end of April 2021. By the end of November 2021, disparities in vaccination coverage for some racial and ethnic groups narrowed, and coverage was similar for non-Hispanic Black (78.2%), Hispanic (81.3%), Native Hawaiian and other Pacific Islander (75.7%), and non-Hispanic White (78.7%) adults.
Genomics and Health Equity: Reaching Asian American, Native Hawaiian, and Pacific Islander Communities
Z Chen et al, CDC Blog Post, June 7, 2022
(Posted: Jun-08-2022 6AM)
While Asian American, Native Hawaiian, and Pacific Islander Heritage Month has ended, we continue to examine the health disparities AA and NHPI communities may experience. Today, we reflect on the disparities in the implementation of genomics and precision medicine. For example, a recent systematic review by Young and colleagues found that Asian American women were less likely to be referred for genetic services than White Non-Hispanic women but were more likely to undergo genetic counseling and genetic testing (GC/GT) for any genetic condition despite the access challenges. The review also revealed that Asian Americans’ family members were less likely to be informed of the results from GT and risk information than other racial groups, although they had been involved in testing decisions.
Race-Free Estimation of Kidney Function: Clearing the Path Toward Kidney Health Equity.
Boulware L Ebony et al. JAMA 2022 6
(Posted: Jun-07-2022 0PM)
Eliminating racial inequities in kidney disease outcomes that profoundly affect Black individuals remains a pressing challenge in the US. The tremendous personal costs to Black individuals and their families and the larger societal costs resulting from excess kidney failure, cardiovascular morbidity, and mortality can be better addressed as health care clinicians, health care organizations, health care insurers, and policy makers balance the costs and benefits of implementing the new 2021 eGFRcr-cys(AS) equation.
Increasing diversity in genomics requires investment in equitable partnerships and capacity building.
Martin Alicia R et al. Nature genetics 2022 6
(Posted: Jun-07-2022 8AM)
Calls for diversity in genomics have motivated new global research collaborations across institutions with highly imbalanced resources. We describe practical lessons we have learned so far from designing multidisciplinary international research and capacity-building programs that prioritize equity in two intertwined programs — the NeuroGAP-Psychosis research study and GINGER training program — spanning institutions in Ethiopia, Kenya, South Africa, Uganda and the United States.
Nature article collection, May 2022
(Posted: May-31-2022 8AM)
As the first wave of the COVID pandemic washed across the world, it left devastation in its wake – devastation that was persistently most acute among disadvantaged people and in marginalized communities. COVID made obvious what many already knew: Inequity—whether because of race, culture, skin color, income or caste—can be lethal.
Notice of Special Interest (NOSI): Administrative Supplements to Support "All of US" and Health Disparities-Related Pilot Research Projects at NIMHD-Funded Research Centers in Minority Institutions (RCMI)
NIH, May 2022
(Posted: May-23-2022 11AM)
This Notice of Special Interest (NOSI) invites applications for administrative supplements to NIMHD Research Centers in Minority Institutions (RCMI) U54 awards to support pilot research projects led by post-doctoral fellows, junior faculty, or other early-stage investigators (ESIs) that utilize the NIH’s All of Us Research Program dataset. NIMHD is particularly interested in health equity studies that explore the role of social determinants in health outcomes or clinical care for populations that experience health disparities.
Algorithmic fairness in pandemic forecasting: lessons from COVID-19
TC Tsai et al, NPJ Digital Medicine, May 10, 2022
(Posted: May-10-2022 10AM)
Racial and ethnic minorities have borne a particularly acute burden of the COVID-19 pandemic in the United States. There is a growing awareness from both researchers and public health leaders of the critical need to ensure fairness in forecast results. Without careful and deliberate bias mitigation, inequities embedded in data can be transferred to model predictions, perpetuating disparities, and exacerbating the disproportionate harms of the COVID-19 pandemic.
Promoting the genomic revolution in Africa through the Nigerian 100K Genome Project
S Fatumo et al, Nature Genetics, May 9, 2022
(Posted: May-10-2022 10AM)
To leverage the genetic diversity in Nigeria, we established the Non-Communicable Diseases Genetic Heritage Study (NCD-GHS) consortium to help produce a comprehensive catalog of human genetic variation in Nigeria and assess the burden and etiological characteristics of non-communicable diseases in 100,000 adults in Nigeria.
The distinct impacts of race and genetic ancestry on health
TR Rebbeck et al, Nature Medicine, May 9, 2022
(Posted: May-09-2022 2PM)
Genetic ancestry affects human health, but this is distinct from the impact of race, a social construct that has its foundations in systemic racism. These terms need to be better defined and understood in medical research to achieve health equity. As the healthcare field attempts to better understand the complex interaction of ancestral, genetic and sociocultural factors on the biology underlying human health and disease, it is important to precisely define the distinct concepts of ancestry and race
An ethical plan for including forcibly displaced persons in omics and digital technology research
F Taki et al, Nature Medicine,May 5, 2022
(Posted: May-09-2022 7AM)
The use of novel technologies in this population, in addition to routine clinical care, provides an opportunity to reduce health disparities for forcibly displaced individuals. New technologies in healthcare are rapidly expanding, from three-dimensional bioprinting of tissues and organs to onsite portable sequencing to detect disease. Two novel technologies that are especially relevant to displaced persons, which have revolutionized healthcare for the general population in high-income countries, are omics and digital healthcare technology. Each of these can benefit forcibly displaced populations if applied appropriately and responsibly.
Improving polygenic prediction in ancestrally diverse populations
Y Ruan et al, Nature Genetics, May 5, 2022
(Posted: May-05-2022 2PM)
Polygenic risk scores (PRS) have attenuated cross-population predictive performance. As existing genome-wide association studies (GWAS) have been conducted predominantly in individuals of European descent, the limited transferability of PRS reduces their clinical value in non-European populations, and may exacerbate healthcare disparities. Recent efforts to level ancestry imbalance in genomic research have expanded the scale of non-European GWAS, although most remain underpowered. Here, we present a new PRS construction method, PRS-CSx, which improves cross-population polygenic prediction by integrating GWAS summary statistics from multiple populations.
Getting genetic ancestry right for science and society.
Lewis Anna C F et al. Science (New York, N.Y.) 2022 4 (6590) 250-252
(Posted: May-03-2022 7AM)
Many institutions have been reexamining their use of race and racism and stating intentions about how race should be used going forward. One common proposal is to use genetic concepts—in particular, genetic ancestry and population categories—as a replacement for race. However, the use of ancestry categories has technical limitations, fails to adequately capture human genetic diversity and demographic history, and risks retaining one of the most problematic aspects of race—an essentialist link to biology—by allowing genetic ancestry categories to stand in its place.
Health equity in the implementation of genomics and precision medicine: A public health imperative
MJ Khoury et al, Genetics in Medicine, April 28, 2022
(Posted: Apr-28-2022 0PM)
We make the case that a public health agenda is needed to address disparities in implementation of genomics and precision medicine. Public health actions can be centered on population-specific needs and outcomes assessment, policy and evidence development, and assurance of delivery of effective and ethical interventions. Crucial public health activities also include engaging communities, building coalitions, improving genetic health literacy, and building a diverse workforce. Without concerted public health action, further advances in genomics with potentially broad applications could lead to further widening of health disparities in the next decade.
Improving racial diversity in the genomics workforce: An examination of challenges and opportunities.
Wicklund Catherine et al. Genetics in medicine : official journal of the American College of Medical Genetics 2022 4
(Posted: Apr-27-2022 1PM)
Currently, the genomics workforce is not representative of the patients it serves, which leads to a lack of equitable patient access to genetic services. We call on the genomics clinical and research communities to be stakeholders in facilitating equitable access and sharing responsibility for developing, implementing, and measuring the success of policies and programs intended to drive diversity in the workforce. Importantly, we challenge institutions to examine their part of the problem to instate appropriate initiatives for change that support underrepresented trainees and faculty.
Provisional COVID-19 Age-Adjusted Death Rates, by Race and Ethnicity — United States, 2020–2021
BI Truman et al, MMWR, April 22, 2022
(Posted: Apr-22-2022 1PM)
In 2020, racial and ethnic disparities in COVID-19 age-adjusted death rates (AADR) were reported among U.S. residents.
From 2020 to 2021, disparities in AADR ratios from COVID-19 decreased significantly by 14.0%–40.2% for most racial and ethnic groups, including non-Hispanic White persons, who accounted for 59.6%–65.2% of all decedents; and increased nonsignificantly (7.2%) for non-Hispanic Native Hawaiian and other Pacific Islander persons (0.2%–0.3% of all decedents) compared with non-Hispanic multiracial persons.
A Framework for Promoting Diversity, Equity, and Inclusion in Genetics and Genomics Research
TR Rebbeck et al, JAMA Health Forum, April 15, 2022
(Posted: Apr-16-2022 1PM)
We propose a novel framework for promoting diversity, equity, and inclusion in genomics research. Building on principles of community-based participatory research and collective impact frameworks, the framework can guide our understanding of the social, cultural, health system, policy, community, and individual contexts in which engagement and genomics research are being done. Our framework highlights the involvement of a multistakeholder team, including the participants and communities to be engaged, to ensure robust methods for recruitment, retention, return of genomic results, quality of engagement, follow-up, and monitoring of participants.
Demographic Differences Among US Department of Veterans Affairs Patients Referred for Genetic Consultation to a Centralized VA Telehealth Program, VA Medical Centers, or the Community
MT Sheuner et al, JAMA Network Open, April 11, 2022
(Posted: Apr-11-2022 2PM)
In this national cross-sectional study of 24?778 adult patients with genetic referrals, certain racial and ethnic groups were significantly less likely to be referred to a centralized telehealth model than traditional genetic services, and completing consultations was significantly less likely for Black patients referred to the telehealth model. Patients were more likely to have multiple cancer preventive procedures if they completed their consultations but only if completed with traditional genetic services.
Leveraging fine-mapping and multipopulation training data to improve cross-population polygenic risk scores
O Weissbrod et al, Nature Genetics, April 7, 2022
(Posted: Apr-07-2022 2PM)
Polygenic risk scores suffer reduced accuracy in non-European populations, exacerbating health disparities. We propose PolyPred, a method that improves cross-population polygenic risk scores by combining two predictors: a new predictor that leverages functionally informed fine-mapping to estimate causal effects (instead of tagging effects), addressing linkage disequilibrium differences, and BOLT-LMM, a published predictor.
Minority Health SVI
CDC and HHS, April 2022
(Posted: Apr-06-2022 10AM)
The Centers for Disease Control and Prevention (CDC) and U.S. Department of Health and Human Services (HHS) Office of Minority Health developed the Minority Health Social Vulnerability Index (SVI) to enhance existing resources to support the identification of racial and ethnic minority communities at greatest risk for disproportionate impact and adverse outcomes due to the COVID-19 pandemic. Given evidence on common factors contributing to social vulnerability, the MH SVI could potentially be applied to other public health emergencies.
Heart Failure, Precision Medicine, and Incremental Equity- The Case of Hereditary Amyloid Cardiomyopathy
MR Echols et al, JAMA, April 4, 2022
(Posted: Apr-05-2022 11AM)
An important consideration is whether a genome-guided precision approach could have beneficial effects on health equity among patients with heart failure. It is well established that poor heart failure outcomes occur disproportionately among Black individuals. Furthermore, as with other major health disparities, even though huge investments in research and development have produced greater mechanistic insight and an ever-widening therapeutic armamentarium, thereby improving outcomes for patients with heart failure in general, they have not produced a substantial reduction in race-related disparities
Lower Exome Sequencing Coverage of Ancestrally African Patients in the Cancer Genome Atlas
DP Wickland et al, JNCI, March 17, 2022
(Posted: Mar-19-2022 10AM)
We compared the qualities of germline and tumor exomes between ancestrally African and European patients in The Cancer Genome Atlas (TCGA) of seven cancers with at least 50 self-reported Black patients in the context of sequencing depth, tumor purity, and qualities of germline variants and somatic mutations. Germline and tumor exomes from ancestrally African patients were sequenced at statistically significantly lower depth in six out of the seven cancers. For three cancers, most ancestrally European exomes were sequenced in early sample batches at higher depth whereas ancestrally African exomes were concentrated in later batches and sequenced at much lower depth.
NIH’s All of Us Research Program Releases First Genomic Dataset of Nearly 100,000 Whole Genome Sequences
NIH, March 17, 2022
(Posted: Mar-18-2022 7AM)
Nearly 100,000 highly diverse whole genome sequences are now available through the National Institutes of Health's All of Us Research Program. About 50% of the data is from individuals who identify with racial or ethnic groups that have historically been underrepresented in research. This data will enable researchers to address yet unanswerable questions about health and disease, leading to new breakthroughs and advancing discoveries to reduce persistent health disparities.
Applying implementation science to improve care for familial hypercholesterolemia.
Jones Laney K et al. Current opinion in endocrinology, diabetes, and obesity 2021 11 (2) 141-151
(Posted: Mar-14-2022 7AM)
Improving care of individuals with familial hypercholesteremia (FH) is reliant on the synthesis of evidence-based guidelines and their subsequent implementation into clinical care. This review describes implementation strategies, defined as methods to improve translation of evidence into FH care, that have been mapped to strategies from the Expert Recommendations for Implementing Change (ERIC) compilation. There were only 8 of 37 studies that utilized an implementation science theory, model, or framework and two that explicitly addressed health disparities or equity.
Diversity in cancer genomics research is a matter of equity and scientific discovery.
Pal Tuya et al. Genetics in medicine : official journal of the American College of Medical Genetics 2021 12
(Posted: Mar-07-2022 9AM)
Promoting diversity to advance genomics research is an ethical issue to ensure that populations beyond those of European descent benefit equally from the advances as highlighted in a new study which shows that polygenic risk scores (PRSs) constructed from single-nucleotide variations (SNVs, formerly singe nucleotide polymorphisms [SNPs]) increase the discriminatory ability to predict cancer risks in individuals of European but not of African ancestry. Their findings underscore the potential for PRS to widen existing health disparities because of the paucity of data in populations of non-European descent,
Racial Disparities in Ion Channelopathies and Inherited Cardiovascular Diseases Associated With Sudden Cardiac Death
M Chahine et al, May 2022
(Posted: Mar-06-2022 7AM)
Cardiovascular disease (CVD) continues to be the most common cause of death worldwide, and cardiac arrhythmias account for approximately one half of these deaths. The morbidity and mortality from CVD have been reduced significantly over the past few decades; however, disparities in racial or ethnic populations still exist. This review is based on available literature to date and focuses on known cardiac channelopathies and other inherited disorders associated with sudden cardiac death in African American/Black subjects and the role of epigenetics in phenotypic manifestations of CVD, and illustrates existing disparities in treatment and outcomes. The review also highlights the knowledge gaps that limit understanding of the manifestation of phenotypic abnormalities across racial or ethnic groups and discusses disparities associated with device underuse in the management of patients at risk for sudden cardiac death.
Disparities in SARS-CoV-2 case rates by ethnicity, religion, measures of socio-economic position, English proficiency, and self-reported disability: cohort study of 39 million people in England during the Alpha and Delta waves
T Larsen et al, MEDRXIV, March 4, 2022
(Posted: Mar-06-2022 7AM)
During the study period, 5,767,584 individuals tested positive for SARS-CoV-2. In the second wave, the fully-adjusted odds of having a positive test, relative to the White British group, were highest for the Bangladeshi (OR: 1.88, 95% CI 1.86 to 1.90) and Pakistani (1.81, 1.79 to 1.82) ethnic groups. Relative to the Christian group, Muslim and Sikh religious groups had fully-adjusted ORs of 1.58 (1.57 to 1.59) and 1.74 (1.72 to 1.76), respectively. Greater area deprivation, disadvantaged socio-economic position, living in a care home and low English language proficiency were also associated with higher odds of having a positive test. However, the disparities between groups varied over time.
Disparities in COVID-19 Vaccination Coverage Between Urban and Rural Counties — United States, December 14, 2020–January 31, 2022
R Saelee et al, MMWR, March 4, 2022
(Posted: Mar-03-2022 1PM)
COVID-19 incidence and mortality are higher in rural than in urban communities. Disparities in COVID-19 vaccination coverage between urban and rural communities have been recognized. This study found that COVID-19 vaccination coverage with the first dose of the primary vaccination series was lower in rural (58.5%) than in urban counties (75.4%); disparities have increased more than twofold since April 2021. Receipt of booster or additional doses was similarly low in both rural and urban counties.
Racial Differences in Genomic Profiles of Breast Cancer.
Goel Neha et al. JAMA network open 2022 3 (3) e220573
(Posted: Mar-03-2022 8AM)
Recent advancements in precision oncology contribute to these disparities by underrepresenting Black patients and Asian patients, limiting the discovery of variations and potentially targetable genes in diverse populations.4 To bridge this critical gap, we examined tumor genomic profiles by race in a large, diverse patient cohort. We identified that Black patients with metastatic breast cancer were less likely than White patients or Asian patients to have actionable genetic variations, specifically in PIK3CA.
Promoting Health Equity in Cancer Care — ‘It’s Time to Declare Disparities Intolerable’
S Miceli, NASEM, January 2022
(Posted: Feb-26-2022 7AM)
“In cancer care, we’re always thinking about the newest medication, the newest technology, but we’re not always putting the social determinants of health first,” said Lisa C. Richardson, division director for cancer control at the Centers for Disease Control and Prevention. “We’re dealing with people — not just cancer.” This NASEM workshop examined opportunities to improve health equity across the cancer care continuum. Gwen Darien, executive vice president at the National Patient Advocate Foundation, encouraged attendees to consider how cancer care providers are doing things differently now to advance health equity, and what they need to do in the future.
COVID infection rates, clinical outcomes, and racial/ethnic and gender disparities before and after Omicron emerged in the US
R Xu et al, MEDRXIV, February 22, 2022
(Posted: Feb-23-2022 6AM)
Improving Diversity of the Genomics Workforce
NASEM RoundTable on Genomics and Precision Health, February 18, 2022
(Posted: Feb-18-2022 0PM)
The workshop, Improving Diversity of the Genomics Workforce, examined the current state of diversity of the genetics and genomics workforce; the structural and social factors associated with the lack of workforce diversity; the impact of diversity in the workforce on access to genetic services and patient outcomes; and possible actions that could lead to a more diverse, equitable, and inclusive genomics workforce. This Proceedings of a Workshop-in Brief highlights the presentations and discussions that occurred during the workshop.
A roadmap to increase diversity in genomic studies
S Fatumo et al, Nature Medicine, February 10, 2022
(Posted: Feb-11-2022 7AM)
Here, we describe factors that have contributed to the imbalance in representation of different populations and, leveraging our experiences in setting up genomic studies in diverse global populations, we propose a roadmap to enhancing inclusion and ensuring equal health benefits of genomics advances. Our Perspective highlights the importance of sincere, concerted global efforts toward genomic equity to ensure the benefits of genomic medicine are accessible to all.
Bias In Algorithms Of AI Systems Developed For COVID-19: A Scoping Review
J Delgado et al, Research Square, February 10, 2022
(Posted: Feb-11-2022 7AM)
From 1054 identified articles, 20 studies were finally included. We propose a typology of biases identified in the literature based on bias, limitations and other ethical issues in both areas of analysis. Results on health disparities and SDOH were classified into five categories: racial disparities, biased data, socio-economic disparities, unequal accessibility and workforce, and information communication.
Racial Biology and Medical Misconceptions
A Deyrup et al, NEJM, February 10, 2022
(Posted: Feb-09-2022 5PM)
In the 20th century, biologic-anthropologic and population-genetic analyses of human variation demonstrated conclusively that anatomically modern humans do not have biologic races. Since human biologic variation is driven by genetic drift (random variation in allele frequency associated with ancestral lineages) and uncorrelated selection pressures, physical traits cannot be used to delineate racial groups. Traits such as skin color, tooth size, bone density, presence of hemoglobin S, and craniofacial measurements do not map to socially defined racial categories.
Racial and Ethnic Disparities in Receipt of Medications for Treatment of COVID-19 - United States, March 2020-August 2021.
Wiltz Jennifer L et al. MMWR. Morbidity and mortality weekly report 2022 1 (3) 96-102
(Posted: Jan-21-2022 9AM)
Racial and ethnic disparities in SARS-CoV-2 infection risk and death from COVID-19 have been well documented. Analysis of data from 41 health care systems participating in the PCORnet, the National Patient-Centered Clinical Research Network found lower use of monoclonal antibody treatment among Black, Asian, and Other race and Hispanic patients with positive SARS-CoV-2 test results, relative to White and non-Hispanic patients. Racial and ethnic differences were smaller for inpatient administration of remdesivir and dexamethasone.
A systematic review of geographical inequities for accessing clinical genomic and genetic services for non-cancer related rare disease
S Best, et al, EJHG, January 20, 2022
(Posted: Jan-20-2022 7AM)
We undertook a systematic review searching for articles relating to geographical access to genetic/genomic services for rare disease. Searching the databases Medline, EMBASE and PubMed returned 1803 papers. Screening led to the inclusion of 20 articles for data extraction. Using inductive thematic analysis, we identified four themes (i) Current service model design, (ii) Logistical issues facing clinicians and communities, (iii) Workforce capacity and capability and iv) Rural culture and consumer beliefs.
Racial and Ethnic Disparities in Receipt of Medications for Treatment of COVID-19 — United States, March 2020–August 2021
JL Witz et al, MMWR, January 14, 2022
(Posted: Jan-15-2022 9AM)
Racial and ethnic disparities in SARS-CoV-2 infection risk and death from COVID-19 have been well documented. Analysis of data from 41 health care systems participating in the National Patient-Centered Clinical Research Network found lower use of monoclonal antibody treatment among Black, Asian, and Other race and Hispanic patients with positive SARS-CoV-2 test results, relative to White and non-Hispanic patients. Racial and ethnic differences were smaller for inpatient administration of remdesivir and dexamethasone.
Genomics and Diversity in the Workplace- Enhancing the diversity of the research workforce fosters innovation and creativity.
NHGRI, December 2021
(Posted: Dec-15-2021 1PM)
People from diverse backgrounds, women and people with disabilities are significantly underrepresented in biomedical research and clinical science. Individuals from diverse backgrounds can positively influence innovation and interpretation of research and health equity. The National Human Genome Research Institute (NHGRI) is undertaking a leadership role to champion a more diverse genomic workforce.
Major cholesterol study reveals benefits of examining diverse populations
Nature research briefing, December 9, 2021
(Posted: Dec-12-2021 9AM)
Researchers performed the largest genetic study of cholesterol levels so far by combining data from 201 studies in 35 countries involving 1.65 million people. Diversifying research participants improved the ability to identify genes controlling cholesterol levels and to predict levels across all ancestries.
Trends in Use of Next-Generation Sequencing in Patients With Solid Tumors by Race and Ethnicity After Implementation of the Medicare National Coverage Determination
DM Sheinson et al, JAMA Network Open, December 10, 2021
(Posted: Dec-10-2021 4PM)
In this cohort study of 92?687 patients with lung, breast, colon, and skin cancer, national coverage decision implementation was associated with a slower rate of increase in next-generation sequencing use for patients with patient assistance programs compared with Medicare beneficiaries. Implementation of the NCD was not associated with narrowing of racial and ethnic disparities among Medicare beneficiaries alone or the overall insured population.
The Meaning of Eugenics: Historical and Present-Day Discussions of Eugenics and Scientific Racism."
NHGRI, December 2021 workshop presentations
(Posted: Dec-10-2021 4PM)
NHGRI hosted a two-day virtual symposium, "The Meaning of Eugenics: Historical and Present-Day Discussions of Eugenics and Scientific Racism." Day 1 provides historical overviews relevant to public health, the history of human genetics, medical ethics and persons with disabilities. Day 2 focuses on recent examples of eugenics while underscoring the persistence of scientific and structural racism today in the United States.
Data analysts proved what Black Pittsburgh knew about COVID's racial disparities
C Spolar, NPR, December 7, 2021
(Posted: Dec-07-2021 6AM)
Mapping the locations of COVID-19 testing centers and analyzing that data proved sobering, he says. People most likely to be tested lived in Pittsburgh's predominately white neighborhoods. Largely employed in tech, academia and finance, they could easily adapt to lockdowns. They had round-the-clock internet at home and could afford food deliveries to limit the chance of infection. Later, when coronavirus vaccines were developed and distributed, they could get those shots more quickly, too. "The communities that had the most tests were the affluent ones." And those with the fewest were "the people who had to go out there and work."
Impact of genetic ancestry on viral infection response
L Koch, Nat Rev Genetics, November 29, 2021
(Posted: Nov-30-2021 9AM)
Pathogens impose selection pressures on human genomes. Depending on local environments, over time this pressure may lead to population-specific genetic variation that differentially affects infectious disease susceptibility. A recent study sought to characterize the genetic determinants of differences in immune responses to viral infection between individuals of European and African ancestries.
Genetic ancestry effects on the response to viral infection are pervasive but cell type specific
HE Randolph et al, Science, November 25, 2021
(Posted: Nov-26-2021 10AM)
Using single-cell RNA sequencing of immune cells from individuals of European and African descent who were infected with influenza in vitro, this study showed that infection-induced gene signatures diverged in a cell-type-specific manner that was correlated with ancestry, and that these observed ancestry-related differences were caused by changes in gene regulation and processes involved in transcription and translation.
A genome-wide association study of COVID-19 related hospitalization in Spain reveals genetic disparities among sexes
SCOURGE, MEDRXIV, November 24, 2021
(Posted: Nov-25-2021 9AM)
Disparities in COVID-19 Outcomes by Race, Ethnicity, and Socioeconomic Status
A Systematic-Review and Meta-analysis
S Magesh et al, JAMA Network Open, November 2021
(Posted: Nov-15-2021 1PM)
n this systematic review and meta-analysis of 4.3 million patients from 68 studies, African American, Hispanic, and Asian American individuals had a higher risk of COVID-19 positivity and ICU admission but lower mortality rates than White individuals. Socioeconomic disparity and clinical care quality were associated with COVID-19 mortality and incidence in racial and ethnic minority groups. The area deprivation index was positively correlated with mortality rates in Asian American and Hispanic individuals (P?<?.001). Decreased access to clinical care was positively correlated with COVID-19 positivity in Hispanic individuals (P?<?.001) and African American individuals (P?<?.001).
Diversity, equity and inclusion: we are in it for the long run
Nature Medicine editorial, November 11, 2021
(Posted: Nov-11-2021 0PM)
The viewpoints presented in this month’s issue are intended to serve as a starting point for a much broader discussion about diversity, inclusion and equity in medical research. In upcoming months, we will be tackling issues such as the lack of diversity in medical research data, its consequences and how to close that gap, research priorities in under-represented groups and unfair practices in collaborative research, as well as what the challenges of building a diverse scientific workforce look like in other areas of the globe. We invite our readers to contribute content across all sections of the journal, including research papers focused on interventions to reduce health inequities.
Racial and Ethnic Disparities Among Participants in Precision Oncology Clinical Studies
CM Aldriguetti et al, JAMA Network Open, November 8, 2021
(Posted: Nov-09-2021 6AM)
This cross-sectional analysis evaluates breast, prostate, lung, and colorectal cancer studies in the Clinicaltrials.gov registry with precision medicine objectives and reporting race and ethnicity—a total of 93 studies with 5867 total enrollees. An underrepresentation of minority racial groups and an overrepresentation of non-Hispanic White participants relative to their incidence in the US cancer population was found in precision oncology studies.
The language of genetics
Nature Genetics editorial, November 5, 2021
(Posted: Nov-06-2021 9AM)
The language used to describe individuals or groups in genetics research can be imprecise, confusing or even offensive. As a global community, geneticists need to take a broad perspective when selecting what language to use. Given the hideous racist history of the genetics field, we have to work actively to shape policies that prevent a repetition or continuation of abhorrent or objectionable practices. To do this, we need to involve different stakeholders and communities, particularly those that have been the most vulnerable to abuse and being marginalized.
Misuse of the term ‘trans-ethnic’ in genomics research
M Kamariza et al, Nature Genetics, November 5, 2021
(Posted: Nov-05-2021 6PM)
A concerning trend in genetics is the common use of the term ‘trans-ethnic’ to describe analyses that combine or compare several ancestrally diverse populations. In this commentary, we discuss how this term is inaccurate and alienating. We propose that geneticists avoid using the term trans-ethnic entirely and that researchers across disciplines reach a new consensus about the best terms to use to describe the populations we study.
Time to Eliminate Health Care Disparities in the Estimation of Kidney Function.
Williams Winfred W et al. The New England journal of medicine 2021 9 (19) 1804-1806
(Posted: Nov-04-2021 10AM)
Meaningful ways to alleviate health care inequities are overdue. That Black persons with CKD often lose kidney function more rapidly and have lower kidney transplantation rates than patients from other racial and ethnic groups indicates an urgent problem. The use of the most accurate estimates of GFR may permit earlier identification and care of persons at risk.Irrespective of the equations adopted, estimates of GFR are, by their very nature, imperfect.
Genetic Counseling and Testing in African American Patients With Breast Cancer: A Nationwide Survey of US Breast Oncologists.
Ademuyiwa Foluso O et al. Journal of clinical oncology : official journal of the American Society of Clinical Oncology 2021 10 JCO2101426
(Posted: Oct-21-2021 8AM)
We demonstrated that racial differences exist in oncology physicians' perceived barriers to GCT for patients with breast cancer. This nationwide survey will serve as a basis for understanding physicians' determinants of GCT for African American women and highlights the necessity of education and interventions to address bias among physicians. Awareness of such physician biases can enable further work to address inequities, ultimately leading to improved GCT equity for African American women with breast cancer.
Quantifying and Benchmarking Disparities in COVID-19 Vaccination Rates by Race and Ethnicity
MB Reitsma et al, JAMA Network Open, October 20, 2021
(Posted: Oct-21-2021 6AM)
In most states, relative uptake rates through March 31, 2021, were substantially higher among White compared with Black and Hispanic adults, by a median factor of 1.3 times for White compared with Black adults (IQR, 1.2-1.4 times) and a median 1.3 times for White compared with Hispanic adults (IQR, 1.1-1.6 times) (Figure 1). Combined effects of disproportionate uptake and age-based eligibility resulted in estimated coverage among Black and Hispanic adults (29%) being one-third lower than among White adults (43%) by the end of March.
Special focus issue on epigenomics and health disparities: foreword.
Argentieri M Austin et al. Epigenomics 2021 10
(Posted: Oct-15-2021 10AM)
Although epigenomic researchers have been investigating the influences of physical environmental exposures (e.g., air pollution, contaminants and heavy metal exposures and lifestyle factors such as smoking, alcohol and nutrition) on epigenetic mechanisms for years under the banner of ‘environmental epigenomics’, the field is at a crossroads where a fundamental rethinking of what constitutes a human environment is necessary, especially in the pursuit of understanding disparities in health and disease. It will be crucial for the field of environmental epigenomics to expand its inquiry to the entire exposome (i.e., all nongenetic influences on health, including social, economic, cultural, built environment and housing and psychosocial dimensions of life) in order to truly come to terms with the determinants of health inequality from an epigenomic perspective.