564 hot topic(s) found with the query "Disparities"
Genetic Researchers' Use of and Interest in Research With Diverse Ancestral Groups.
(Posted: Apr 18, 2024 8AM)
From the article: " Question: Are genetic researchers interested in research with diverse ancestral groups, and how can data stewards encourage that use?
Findings: In this survey study of 294 genetic researchers, significantly more respondents reported working with data from European ancestral populations than any other ancestral population, and European samples were more likely to be considered by researchers as adequate across data-steward type. Most researchers were interested in using more diverse ancestral populations and reported that increasing ancestral diversity of existing databases would enable such research. Meaning: These findings suggest that there are specific gaps in access to and composition of genetic databases, underscoring the need to boost diversity in existing research samples to improve inclusivity in genetic research practices."
Overcoming barriers to single-cell RNA sequencing adoption in low- and middle-income countries
TB Serebour et al, EJHG, April 2, 2024
(Posted: Apr 02, 2024 9AM)
From the abstract: " The advent of single-cell resolution sequencing and spatial transcriptomics has enabled the delivery of cellular and molecular atlases of tissues and organs, providing new insights into tissue health and disease. However, if the full potential of these technologies is to be equitably realised, ancestrally inclusivity is paramount. Such a goal requires greater inclusion of both researchers and donors in low- and middle-income countries (LMICs). In this perspective, we describe the current landscape of ancestral inclusivity in genomic and single-cell transcriptomic studies. We discuss the collaborative efforts needed to scale the barriers to establishing, expanding, and adopting single-cell sequencing research in LMICs."
Utilizing geospatial artificial intelligence to map cancer disparities across health regions
A Fadiel et al, Sci Report, April 2, 2024
(Posted: Apr 02, 2024 9AM)
From the abstract: "We have developed an innovative tool, the Intelligent Catchment Analysis Tool (iCAT), designed to identify and address healthcare disparities across specific regions. Powered by Artificial Intelligence and Machine Learning, our tool employs a robust Geographic Information System (GIS) to map healthcare outcomes and disease disparities. iCAT allows users to query publicly available data sources, health system data, and treatment data, offering insights into gaps and disparities in diagnosis and treatment paradigms. "
Guidance on Use of Race, Ethnicity, and Geographic Origin as Proxies for Genetic Ancestry Groups in Biomedical Publications
G Feero et al, JAMA, March 12, 2024
(Posted: Mar 12, 2024 0PM)
From the article: "In March 2023, the National Academies of Sciences, Engineering, and Medicine (NASEM) released a consensus study report titled Using Population Descriptors in Genetics and Genomics Research.The report is more than a discussion of the use of terminology; the authors of the NASEM report suggest a tectonic shift away from current models that use race, ethnicity, and geographic origin as proxies for genetic ancestry groups (ie, a set of individuals who share more similar genetic ancestries) in genetic and genomic science. The recommendations are rooted in evidence that genetic variation in individuals falls, in general, on a continuum of variation not captured well by existing population descriptors and that the ongoing use of such descriptors as analytical variables jeopardizes the scientific validity of research."
Improving access to exome sequencing in a medically underserved population through the Texome Project
B Vucuolo et al, Genetics in Medicine, February 29, 2024
(Posted: Mar 03, 2024 10AM)
From the abstract: "The Texome Project is a 4-year study that reduces barriers to genomic testing for individuals from underserved and underrepresented populations. Participants with undiagnosed, rare diseases who have financial barriers to obtaining exome sequencing (ES) clinically are enrolled in the Texome Project. We highlight the Texome Project process and describe the outcomes of the first 60 ES results for study participants. Participants received a genetic evaluation, ES, and return of results at no cost. We summarize the psychosocial or medical implications of these genetic diagnoses. "
Researchers optimize genetic tests for diverse populations to tackle health disparities
NIH, February 2024
(Posted: Mar 01, 2024 0PM)
From the website: " To prevent an emerging genomic technology from contributing to health disparities, a scientific team funded by the National Institutes of Health has devised new ways to improve a genetic testing method called a polygenic risk score. Since polygenic risk scores have not been effective for all populations, the researchers recalibrated these genetic tests using ancestrally diverse genomic data. As reported in Nature Medicine, the optimized tests provide a more accurate assessment of disease risk across diverse populations."
The frequency of pathogenic variation in the All of Us cohort reveals ancestry-driven disparities
E Venner et al, Comm Biology, February 19, 2024
(Posted: Feb 20, 2024 7AM)
From the abstract: "Here, we examine pathogenic and likely pathogenic variants that were identified in the All of Us cohort. The European ancestry subgroup showed the highest overall rate of pathogenic variation, with 2.26% of participants having a pathogenic variant. Other ancestry groups had lower rates of pathogenic variation, including 1.62% for the African ancestry group and 1.32% in the Latino/Admixed American ancestry group. "
Overcoming barriers to equitable genomic healthcare
KM Girisha, EJHG, February 13, 2024
(Posted: Feb 13, 2024 9AM)
From the article: "We all recognize the pivotal role of next-generation sequencing in the diagnosis and discovery of rare diseases that are majorly genetic in origin. While limited access might be the result of economic constraints in the three-fourths of the global population, it might also be due to infrastructure (genetic testing laboratories) or trained manpower (genome analysts) in other situations. "
Racial and ethnic disparities in genomic testing among lung cancer patients: a systematic review.
Clare Meernik et al. J Natl Cancer Inst 2024 2
(Posted: Feb 11, 2024 10AM)
From the abstract: "We conducted a systemic review to examine racial and ethnic disparities in the use of genomic testing among lung cancer patients in the U.S. Two comprehensive searches in PubMed, Embase, and Scopus were conducted (September 2022, May 2023). Original studies that assessed rates of genomic testing by race or ethnicity were included. A majority of studies, though not all, observed racial and ethnic disparities in the use of genomic testing among patients with lung cancer. Heterogeneity of study results throughout a period of changing clinical guidelines suggests that minoritized populations—Black patients in particular—have faced additional barriers to genomic testing."
Precision Medicine Has a Data Equity Problem
TM Gordon, NPQ, January 21, 2024
(Posted: Jan 26, 2024 10AM)
From the article: " The ability to deepen our understanding of disease susceptibility, diagnose diseases with greater accuracy, and develop tailored treatments that promote wellbeing and prolong people’s lives presents an opportunity to rectify longstanding healthcare inefficiencies and disparities. However, due to disparities in genomic data, the advent of genetically informed, personalized, or “precise” medicine may perpetuate—rather than alleviate—complex inequalities in care. "
Large language models to identify social determinants of health in electronic health records
M Guevera et al, NPJ Digital Medicine, January 11, 2023
(Posted: Jan 11, 2024 7AM)
From the abstract: "Social determinants of health (SDoH) play a critical role in patient outcomes, yet their documentation is often missing or incomplete in the structured data of electronic health records (EHRs). Large language models (LLMs) could enable high-throughput extraction of SDoH from the EHR to support research and clinical care. "
Genetic risk prediction in Hispanics/Latinos: milestones, challenges, and social-ethical considerations.
Betzaida L Maldonado et al. J Community Genet 2023 11
(Posted: Nov 17, 2023 8AM)
From the abstract: "Recent efforts have focused on increasing racial and ethnic diversity in GWAS, thus, addressing some of the limitations of genetic risk prediction in these populations. Even with these efforts, few studies focus exclusively on Hispanics/Latinos. Additionally, Hispanic/Latino populations are often considered a single population despite varying admixture proportions between and within ethnic groups, diverse genetic heterogeneity, and demographic history. Combined with highly heterogeneous environmental and socioeconomic exposures, this diversity can reduce the transferability of genetic risk prediction models. "
Prioritizing the Exposome to Reduce Cardiovascular Disease Burden.
Erica S Spatz et al. JAMA Cardiol 2023 11
(Posted: Nov 14, 2023 1PM)
From the paper: "There is an imperative to address the exposome in efforts to advance health equity, requiring a combination of research and action. In focusing on environmental exposures that are not only measurable but modifiable (eg, reducing street temperatures by increasing green spaces and planting trees that give shade), there is an opportunity to derive the direct benefits (eg, fewer cardiac arrests and strokes, higher well-being) while addressing societal disparities and racism (eg, prioritizing minoritized communities that have been failed by discriminatory investments in landscape and housing) "
Strengthening digital health equity by balancing techno-optimism and techno-skepticism through implementation science.
Jorge A Rodriguez et al. NPJ Digit Med 2023 11 (1) 203
(Posted: Nov 03, 2023 8AM)
From the abstract: " The promise that technology can revolutionize care by better connecting us to our patients, overcoming analog barriers to care, and addressing health disparities is grounded in “techno-optimism.” We advocate for organizational leaders to inform their digital health equity strategies with a balanced measure of “techno-skepticism”, grounded in implementation science, that can ensure alignment between health technology and health equity.
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Digital health tools in genomics: Advancing diversity, equity and inclusion
D Assamad et al, Public Health Genomics, November 2023
(Posted: Nov 02, 2023 9AM)
From the paper: "Patient-facing digital genomic tools are increasingly being used to facilitate the delivery of genetics services including patient intake, phenotyping, education, counseling, and result reporting. A recent systematic review found that digital tools improved the workflow of genetics providers and service efficiencies. Existing data on patient experiences also demonstrate high acceptance of pre-test digital tools across various contexts, with most
patients endorsing and expressing high levels of satisfaction with these tools. However, a closer examination of digital genomic tools reveals a concerning lack of consideration for diversity,
equity, and inclusion (DEI) principles in their design, evaluation, and implementation within health systems [ "
Big advocacy, little recognition: the hidden work of Black patients in precision medicine
LH Jerido et al, J Comm Genetics, October 2023
(Posted: Oct 03, 2023 9AM)
From the abstract: " As cost-effective next-generation genome sequencing rapidly develops, calls for greater inclusion of Black people in genomic research, policy, and practice are necessary for effective translation of genomic science into precision population health and medicine. Employing a community-based participatory mixed methods research design, we developed a semi-structured survey that was disseminated to three cancer advocacy organizations."
Biomarker-Directed Therapy in Black and White Men With Metastatic Castration-Resistant Prostate Cancer.
Clara Hwang et al. JAMA Netw Open 2023 9 (9) e2334208
(Posted: Sep 21, 2023 2PM)
From the abstract: "Do disparities exist in the application of precision medicine for Black and White men with metastatic prostate cancer?
In this cohort study of 962 men with metastatic castration-resistant prostate cancer, mismatch repair deficiency or microsatellite instability-high was significantly more frequent in Black men than White men. However, Black men were significantly less likely to receive molecularly matched targeted therapy than White men. These findings suggest that although precision medicine in metastatic prostate cancer has become more common, opportunities remain to improve access to precision medicine to benefit Black men with prostate cancer. "
Considerations for addressing bias in artificial intelligence for health equity
Abramoff MD, et al, NPJ Digital Medicine, September 12, 2023
(Posted: Sep 13, 2023 0PM)
From the abstract: "Health equity is a primary goal of healthcare stakeholders: patients and their advocacy groups, clinicians, other providers and their professional societies, bioethicists, payors and value based care organizations, regulatory agencies, legislators, and creators of artificial intelligence/machine learning (AI/ML)-enabled medical devices. Lack of equitable access to diagnosis and treatment may be improved through new digital health technologies, especially AI/ML, but these may also exacerbate disparities, depending on how bias is addressed. "
Extending an Antiracism Lens to the Implementation of Precision Public Health Interventions.
Caitlin G Allen et al. Am J Public Health 2023 8 e1-e9
(Posted: Sep 06, 2023 9AM)
From the abstract: Growing concerns underscore the potential for precision-based approaches to exacerbate health disparities by relying on biased data inputs and recapitulating existing access inequities. To achieve its full potential, precision public health must focus on addressing social and structural drivers of health and prominently incorporate equity-related concerns, particularly with respect to race and ethnicity. In this article, we discuss how an antiracism lens could be applied to reduce health disparities and health inequities through equity-informed research, implementation, and evaluation of precision public health interventions."
Principles and methods for transferring polygenic risk scores across global populations
L Kachuri et al, Nature Rev Genetics, August 24, 2023
(Posted: Aug 24, 2023 10AM)
From the abstract: "Polygenic risk scores (PRSs) summarize the genetic predisposition of a complex human trait or disease and may become a valuable tool for advancing precision medicine. However, PRSs that are developed in populations of predominantly European genetic ancestries can increase health disparities due to poor predictive performance in individuals of diverse and complex genetic ancestries. We describe genetic and modifiable risk factors that limit the transferability of PRSs across populations and review the strengths and weaknesses of existing PRS construction methods for diverse ancestries."
Molecular disparities in colorectal cancers of White Americans, Alabama African Americans, and Oklahoma American Indians.
Hiroshi Y Yamada et al. NPJ Precis Oncol 2023 8 (1) 79
(Posted: Aug 21, 2023 8AM)
We compared transcriptomic profiles of CRCs of Alabama AAs, Oklahoma AIs, and white people from both states. Compared to CRCs of white people, CRCs of AAs showed (a) higher expression of cytokines and vesicle trafficking toward modulated antitumor-immune activity, and (b) lower expression of the ID1/BMP/SMAD axis, IL22RA1, APOBEC3, and Mucins; and AIs had (c) higher expression of PTGS2/COX2 (an NSAID target/pro-oncogenic inflammation) and splicing regulators, and (d) lower tumor suppressor activities (e.g., TOB2, PCGF2, BAP1).
Genetic testing and other healthcare use by Black and white individuals in a genomic sequencing study.
Katherine W Saylor et al. Public Health Genomics 2023 8
(Posted: Aug 14, 2023 1PM)
We assessed factors associated with the odds of having ever received genetic testing prior to enrollment in a genomic sequencing study among 674 self-identified white and 407 self-identified African, African American, or Afro-Caribbean (“Black”) individuals. Controlling for individual determinants of healthcare use (demographics, personality traits, knowledge and attitudes, and health status), identifying as Black was associated with lower odds of prior genetic testing (OR = 0.43, 95% CI [0.27-0.68], p<0.001). In contrast, self-identified race was not associated with the use of non-genetic clinical screening tests.
Factors associated with healthy aging in Latin American populations.
Hernando Santamaria-Garcia et al. Nat Med 2023 8
(Posted: Aug 11, 2023 11AM)
We investigated the combined impact of social determinants of health (SDH), lifestyle factors, cardiometabolic factors, mental health symptoms and demographics (age, sex) on healthy aging (cognition and functional ability) across LAC countries with different levels of socioeconomic development using cross-sectional and longitudinal machine learning models (n?=?44,394 participants). Risk factors associated with social and health disparities, including SDH (ß?>?0.3), mental health (ß?>?0.6) and cardiometabolic risks (ß?>?0.22), significantly influenced healthy aging more than age and sex.
Persistent Underutilization of BRCA Testing for Breast and Ovarian Cancer in the United States: Implications for Health Disparities
L Shi et al, CDC Blog Post, July 25, 2023
(Posted: Jul 25, 2023 11AM)
Two recent studies document ongoing underutilization and disparities in genetic testing for patients with breast and ovarian cancer. The two studies demonstrate the importance of population-level data to track progress in implementation, outcomes, and disparities in genomic medicine. The studies also show how diverse data sources, such as state-based cancer registries, laboratory, EHR, administrative claims, and survey data, each with its own strengths and limitations, can be used to help build the evidence base on genetic testing utilization and disparities.
Leveraging fine-scale population structures for precision healthcare
M Kanai, Nature Medicine, July 18, 2023
(Posted: Jul 18, 2023 2PM)
To explore the intricate relationships between genetics, the environment and healthcare, a recent study used the concept of identity by descent (IBD) clusters — in other words, groups of individuals who co-inherited identical DNA segments from a common genetic ancestor. The study revealed that individuals within IBD clusters shared common genetic ancestors and patterns of healthcare use, such as the number of primary care visits, specialist consultations, hospitalizations, and visits to hospital emergency departments over time — likely due to additional shared environments and socioeconomic status within each cluster. Moreover, the analysis showed that these fine-scale population structures were associated with unique health risks and disparities.
Social determinants of health: the next frontier for improving care and outcomes in sickle cell disease
JS Porter et al, Lancet Heamtology, July 2023
(Posted: Jul 12, 2023 8AM)
In the USA, sickle cell disease affects approximately 100?000 individuals, primarily of African descent. Consequently, due to historical systemic and structural racism, discrimination, and disparities, individuals living with sickle cell disease are a socially and economically disadvantaged population with poor health outcomes.
Data for Action in Public Health Genomics: Ensuring Equitable Implementation of Genomic Applications Across the Lifespan
MJ Khoury et al CDC Blog Post, June 23, 2023
(Posted: Jun 24, 2023 10AM)
Our office is currently identifying gaps in the effective implementation of tier 1 genomic applications. These include the limitations of current public health and healthcare data sources for tracking trends in genetic testing and identifying health disparities and their underlying contributors. These data are needed more than ever to drive practice, programs, and policy, to fulfill the promise of genomics to improve population health and to reduce health inequities.
Population-based Genomic Screening Programs: The Need for Optimal Implementation to Ensure Health Equity
N Rao et al, CDC Blog Post, June 20, 2023
(Posted: Jun 20, 2023 1PM)
Differences in population genetic screening program design influence enrollment rates, particularly during the recruitment phase. In the absence of careful attention to how communities are engaged about genetic screening, population genetic screening may not reach all people, and existing health disparities could be widened. The effectiveness of population-wide screening to identify at-risk individuals will subsequently be diminished.
Improving Identification of Tic Disorders
CDC, June 2023
(Posted: Jun 14, 2023 8AM)
CDC has partnered with the American Academy of Pediatrics (AAP) to develop and offer free virtual trainings on tic disorders. Trainings are available on AAP’s Professional Education (PediaLink) website and qualify for continuing education credits for pediatricians. Training content includes a two-part course:
Caring for Children and Adolescents with Tourette Syndrome; Tourette Syndrome and Beyond: Reducing Disparities and Understanding Tic-Related Conditions
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.
Health Equity
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.
