scholarly journals The Propagation of Racial Disparities in Cardiovascular Genomics Research

2021 ◽  
Author(s):  
Shoa L. Clarke ◽  
Themistocles L. Assimes ◽  
Catherine Tcheandjieu
Keyword(s):  
Health Disparities ◽  
Risk Stratification ◽  
Racial Disparities ◽  
Genetic Basis ◽  
Clinical Care ◽  
European Ancestry ◽  
Genomic Testing ◽  
Cardiovascular Medicine ◽  
Downstream Effects ◽  
Genomics Research

Genomics research has improved our understanding of the genetic basis for human traits and diseases. This progress is now being translated into clinical care as we move toward a future of precision medicine. Many hope that expanded use of genomic testing will improve disease screening, diagnosis, risk stratification, and treatment. In many respects, cardiovascular medicine is leading this charge. However, most cardiovascular genomics research has been conducted in populations of primarily European ancestry. This bias has critical downstream effects. Here, we review the current disparities in cardiovascular genomics research, and we outline how these disparities propagate forward through all phases of the translational pipeline. If not adequately addressed, biases in genomics research will further compound the existing health disparities that face underrepresented and marginalized populations.

scholarly journals Optimising neurodevelopmental and psychosocial outcomes for survivors with CHD: a research agenda for the next decade

2021 ◽  
pp. 1-3
Author(s):  
Erica Sood ◽  
Jeffrey P Jacobs ◽  
Bradley S Marino
Keyword(s):  
Health Disparities ◽  
Outcomes Research ◽  
Research Agenda ◽  
Clinical Care ◽  
Neurodevelopmental Outcome ◽  
Psychosocial Outcomes ◽  
The United States ◽  
Future Research ◽  
Neurodevelopmental Outcomes ◽  
Working Groups

Abstract Neurodevelopmental and psychosocial impairments negatively impact health-related quality of life for survivors with CHD and complicate the transition to independent adulthood. Risk for neurodevelopmental and psychosocial impairments is influenced by a complex interplay among genetic, foetal, surgical, perioperative, family, and social factors, requiring a multi-pronged approach to neuroprotection and intervention. To ensure future research can ultimately reduce the burden of CHD for individuals, families, and society, the most pressing issues in cardiac neurodevelopment requiring scientific investigation must be identified. Through funding from an R13 Grant from the National Heart, Lung, and Blood Institute of the National Institutes of Health of the United States of America, the Cardiac Neurodevelopmental Outcome Collaborative convened a two-day meeting of international experts in cardiac neurodevelopmental and psychosocial research, clinical care, and health disparities, including patient and family stakeholders, to define the cardiac neurodevelopmental and psychosocial outcomes research agenda for the next decade. Seven multidisciplinary working groups were formed to address key domains crucial to the advancement of cardiac neurodevelopmental and psychosocial outcomes research: 1) Foetal Brain Development and Neuroprotection, 2) Surgical/Perioperative Neuroprotection and Neurodevelopment, 3) Characterization of Neurodevelopmental and Psychological Outcomes, 4) Neurodevelopmental and Psychosocial Intervention, 5) Parent Mental Health and Family Functioning, 6) Neurodevelopmental Education, Outreach and Advocacy, and 7) Health Disparities and Neurodevelopmental Outcomes. Working groups identified significant gaps in knowledge and critical questions that must be answered to further knowledge, policy, care, and outcomes. The development of a research agenda in cardiac neurodevelopmental and psychosocial outcomes is critical for informing collaborative initiatives and allocation of funding for research to scientific inquiries of highest value to key stakeholders.

Genomics of Acute Myeloid Leukemia Diagnosis and Pathways

2017 ◽  
Vol 35 (9) ◽  
pp. 934-946 ◽  
Author(s):  
Lars Bullinger ◽  
Konstanze Döhner ◽  
Hartmut Döhner
Keyword(s):  
Acute Myeloid Leukemia ◽  
Risk Stratification ◽  
Myeloid Leukemia ◽  
Clinical Care ◽  
Clonal Expansion ◽  
Disease Classification ◽  
Disease Evolution ◽  
Myeloid Neoplasms ◽  
Increased Risk ◽  
Acute Myeloid

In recent years, our understanding of the molecular pathogenesis of myeloid neoplasms, including acute myeloid leukemia (AML), has been greatly advanced by genomics discovery studies that use novel high-throughput sequencing techniques. AML, similar to most other cancers, is characterized by multiple somatically acquired mutations that affect genes of different functional categories, a complex clonal architecture, and disease evolution over time. Patterns of mutations seem to follow specific and temporally ordered trajectories. Mutations in genes encoding epigenetic modifiers, such as DNMT3A, ASXL1, TET2, IDH1, and IDH2, are commonly acquired early and are present in the founding clone. The same genes are frequently found to be mutated in elderly individuals along with clonal expansion of hematopoiesis that confers an increased risk for the development of hematologic cancers. Furthermore, such mutations may persist after therapy, lead to clonal expansion during hematologic remission, and eventually lead to relapsed disease. In contrast, mutations involving NPM1 or signaling molecules (eg, FLT3, RAS) typically are secondary events that occur later during leukemogenesis. Genetic data are now being used to inform disease classification, risk stratification, and clinical care of patients. Two new provisional entities, AML with mutated RUNX1 and AML with BCR- ABL1, have been included in the current update of the WHO classification of myeloid neoplasms and AML, and mutations in three genes— RUNX1, ASXL1, and TP53—have been added in the risk stratification of the 2017 European LeukemiaNet recommendations for AML. Integrated evaluation of baseline genetics and assessment of minimal residual disease are expected to further improve risk stratification and selection of postremission therapy. Finally, the identification of disease alleles will guide the development and use of novel molecularly targeted therapies.

Abstract P163: Racial Disparities In Coronary Heart Disease Risk Among United States Adults

Circulation ◽  
2014 ◽  
Vol 129 (suppl_1) ◽  
Author(s):  
Yuan Lu ◽  
Kaveh Hajifathalian ◽  
Majid Ezzati ◽  
Eric Rimm ◽  
Goodarz Danaei
Keyword(s):  
Risk Factors ◽  
Coronary Heart Disease ◽  
Health Disparities ◽  
Heart Disease ◽  
High Risk ◽  
Racial Disparities ◽  
Black And White ◽  
Chd Risk ◽  
Risk Distribution ◽  
Age And Sex

Introduction: Health disparities remain pervasive in US and eliminating such disparities is one of the overarching goals of the Healthy People 2020 agenda. Previous studies have assessed the disparities in risk of coronary heart disease (CHD) mortality by race/ethnicity, but most of them only focused on the average CHD risk without taking into account the full risk distribution which would enable analysis of specific high-risk sub-groups. In this study, we estimated the 10-year risk distribution of CHD mortality based on 5 leading modifiable risk factors in US (i.e. smoking, adiposity, high blood pressure, serum cholesterol and blood glucose). We quantified the racial disparities in absolute CHD risk while accounting for full risk distribution. Methods: We included 3866 individuals aged 45 to 74 years, who were black or white, non-pregnant, free of CHD and had measurements of all 5 risk factors from 6 consecutive 2-year cycles of the National Health and Nutrition Examination Survey 1999-2010. We used mortality data from National Center for Health Statistics to estimate the cause-age-sex-race specific mortality in 2010. We also obtained hazard ratios of the selected 5 risk factors on CHD mortality from large meta-analyses of epidemiological studies. We predicted the 10-year risk of CHD death for each individual by simulating their survival process from 2010 to 2020 incorporating competing risks by death from other correlated causes. To assess health disparities, we compared the 5 th , 25 th , 50 th , 75 th and 95 th percentile of the predicted risks between black and white by age and sex. Results: More than half of the black and white population aged 45 to 74 years had a low 10-year risk of CHD death (< 2%). The age-sex-race specific distributions of 10-year CHD risk were right-skewed with a large proportion of population on the low risk tail. Comparing to white, black had similar shape of CHD risk distributions, but higher risk levels at all percentiles across age and sex groups. In 55-64 ages where CHD was the major cause of death, the median of CHD risk for black males was 2.9% (interquartile range (IQR) 1.7% - 4.4%), which was 0.7% larger than that for white males (2.2%, IQR 1.4% - 3.3%). This risk difference was similar in females: the median CHD risk for black females was 1.6% (IQR 0.9% - 2.4%) and 0.9% for white females (IQR 0.5% - 1.5%). The disparities became larger on the high risk tail (95 th percentile of predicted risk), where black had 2.7% higher risk for male and 2.3% for female in 55-64 ages. In older age groups (65-74 ages), such difference increased to 3.5% for both male and female. Conclusions: This analysis showed a skewed 10-year CHD risk distribution in US. The racial disparities are larger in the high risk sub-groups compared to those in the center of the risk distribution, indicating that the high risk subgroups should be the target population of intervention that aims to reduce health disparities in US.

scholarly journals Genetic Ancestry Testing among White Nationalists

2017 ◽  
Author(s):  
Aaron Panofsky ◽  
Joan Donovan
Keyword(s):  
Qualitative Analysis ◽  
Genetic Basis ◽  
Online Discussions ◽  
Genetic Ancestry ◽  
European Ancestry ◽  
Genetic Knowledge ◽  
Data Set ◽  
Genetic Science ◽  
White Nationalism ◽  
Interpretive Framework

Using a data set drawn from the website Stormfront, this paper presents a qualitative analysis of online discussions of white nationalist individuals’ genetic ancestry test (GAT) results. Seeking genetic confirmation of personal identities and having a strong ideology of the genetic basis of race and the value of white “purity,” white nationalists using GATs are sometimes confronted with information they consider evidence of non-white or non-European ancestry. Despite their essentialist views of race, Stormfront posters use GAT information to police individuals’ membership far less commonly than working to develop a variety of scientific and anti-scientific responses enabling them to repair identities by rejecting or reinterpreting GAT results. Simultaneously, however, Stormfront posters use the particular relationships made visible by GATs to debate the collective boundaries and constitution of white nationalism. Bricoleurs with genetic knowledge, white nationalists use a “racial realist” interpretive framework that departs from canons of genetic science but cannot be dismissed simply as ignorant.

scholarly journals Homozygosity for TYK2 P1104A underlies tuberculosis in about 1% of patients in a cohort of European ancestry

2019 ◽  
Vol 116 (21) ◽  
pp. 10430-10434 ◽  
Author(s):  
Gaspard Kerner ◽  
Noe Ramirez-Alejo ◽  
Yoann Seeleuthner ◽  
Rui Yang ◽  
Masato Ogishi ◽  
...  
Keyword(s):  
Odds Ratio ◽  
Genetic Basis ◽  
Sub Saharan Africa ◽  
European Ancestry ◽  
Uk Biobank ◽  
The United Kingdom ◽  
The Common ◽  
Sub Saharan ◽  
The Uk ◽  
High Level

The human genetic basis of tuberculosis (TB) has long remained elusive. We recently reported a high level of enrichment in homozygosity for the common TYK2 P1104A variant in a heterogeneous cohort of patients with TB from non-European countries in which TB is endemic. This variant is homozygous in ∼1/600 Europeans and ∼1/5,000 people from other countries outside East Asia and sub-Saharan Africa. We report a study of this variant in the UK Biobank cohort. The frequency of P1104A homozygotes was much higher in patients with TB (6/620, 1%) than in controls (228/114,473, 0.2%), with an odds ratio (OR) adjusted for ancestry of 5.0 [95% confidence interval (CI): 1.96–10.31, P = 2 × 10−3]. Conversely, we did not observe enrichment for P1104A heterozygosity, or for TYK2 I684S or V362F homozygosity or heterozygosity. Moreover, it is unlikely that more than 10% of controls were infected with Mycobacterium tuberculosis, as 97% were of European genetic ancestry, born between 1939 and 1970, and resided in the United Kingdom. Had all of them been infected, the OR for developing TB upon infection would be higher. These findings suggest that homozygosity for TYK2 P1104A may account for ∼1% of TB cases in Europeans.

scholarly journals Physician–patient racial concordance and disparities in birthing mortality for newborns

2020 ◽  
Vol 117 (35) ◽  
pp. 21194-21200 ◽  
Author(s):  
Brad N. Greenwood ◽  
Rachel R. Hardeman ◽  
Laura Huang ◽  
Aaron Sojourner
Keyword(s):  
United States ◽  
Maternal Mortality ◽  
Racial Disparities ◽  
Clinical Care ◽  
The United States ◽  
Underrepresented Minorities ◽  
Racial Concordance ◽  
Care Outcomes ◽  
Hospital Births ◽  
Physician Patient

Recent work has emphasized the benefits of patient–physician concordance on clinical care outcomes for underrepresented minorities, arguing it can ameliorate outgroup biases, boost communication, and increase trust. We explore concordance in a setting where racial disparities are particularly severe: childbirth. In the United States, Black newborns die at three times the rate of White newborns. Results examining 1.8 million hospital births in the state of Florida between 1992 and 2015 suggest that newborn–physician racial concordance is associated with a significant improvement in mortality for Black infants. Results further suggest that these benefits manifest during more challenging births and in hospitals that deliver more Black babies. We find no significant improvement in maternal mortality when birthing mothers share race with their physician.

Hypertrophic cardiomyopathy: prevention of sudden cardiac death

2018 ◽  
Author(s):  
Constantinos O’Mahony
Keyword(s):  
Hypertrophic Cardiomyopathy ◽  
Sudden Cardiac Death ◽  
Risk Stratification ◽  
Cardiac Death ◽  
Clinical Care ◽  
Psychological Impact ◽  
Ventricular Outflow Tract ◽  
Left Ventricular ◽  
Icd Implantation ◽  
European Society Of Cardiology

Sudden cardiac death (SCD) secondary to ventricular arrhythmias is the most common mode of death in hypertrophic cardiomyopathy (HCM) and can be effectively prevented with an implantable cardioverter defibrillator (ICD). The risk of SCD in HCM relates to the severity of the phenotype and regular risk stratification is an integral part of routine clinical care. For the primary prevention of SCD, risk stratification involves the assessment of seven readily available clinical parameters (age, maximal left ventricular wall thickness, left atrial diameter, left ventricular outflow tract gradient, non-sustained ventricular tachycardia, unexplained syncope, and family history of SCD) which are used to estimate the risk of SCD within 5 years of clinical evaluation using a statistical risk prediction model (HCM Risk-SCD). The 2014 European Society of Cardiology Guidelines provide a framework to aid clinical decisions and consider patients with a 5-year risk of SCD of less than 4% as low risk and recommend regular assessment while those with a risk of 6% or higher should be considered for an ICD. In patients with an intermediate risk (4% to <6%) ICD implantation may also be considered after taking into account age, co-morbid conditions, socioeconomic factors, and the psychological impact of therapy. Survivors of ventricular fibrillation arrest should receive an ICD for secondary prevention unless their life expectancy is less than 1 year. Following device implantation, patients should be followed up for device- and disease-related complications, particularly heart failure and cerebrovascular disease.

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