Emerging Concepts in Precision Medicine and Cardiovascular Diseases in Racial and Ethnic Minority Populations

Abstract

Cardiovascular diseases remain the leading cause of mortality and a major contributor to preventable deaths worldwide. The dominant modifiable risk factors and the social and environmental determinants that increase cardiovascular risk are known, and collectively, are as important in racial and ethnic minority populations as they are in majority populations. Their prevention and treatment remain the foundation for cardiovascular health promotion and disease prevention. Genetic and epigenetic factors are increasingly recognized as important contributors to cardiovascular risk and provide an opportunity for advancing precision cardiovascular medicine. In this review, we explore emerging concepts at the interface of precision medicine and cardiovascular disease in racial and ethnic minority populations. Important among these are the lack of racial and ethnic diversity in genomics studies and biorepositories; the resulting misclassification of benign variants as pathogenic in minorities; and the importance of ensuring ancestry-matched controls in variant interpretation. We address the relevance of epigenetics, pharmacogenomics, genetic testing and counseling, and their social and cultural implications. We also examine the potential impact of precision medicine on racial and ethnic disparities. The National Institutes of Health’s All of Us Research Program and the National Heart, Lung, and Blood Institute’s Trans-Omics for Precision Medicine Initiative are presented as examples of research programs at the forefront of precision medicine and diversity to explore research implications in minorities. We conclude with an overview of implementation research challenges in precision medicine and the ethical implications in minority populations. Successful implementation of precision medicine in cardiovascular disease in minority populations will benefit from strategies that directly address diversity and inclusion in genomics research and go beyond race and ethnicity to explore ancestry-matched controls, as well as geographic, cultural, social, and environmental determinants of health.

Outcomes of ST‐elevation myocardial infarction by age and sex in a low‐income urban community: The Montefiore STEMI Registry

“…This finding points to possible genetic or epigenetic contributions to acute STEMI and antecedent risk factors in our population 28 . However, genetic influences have not been well studied in race/ethnic minorities, for which they may have greater or lesser impact in the context of other cardiovascular risk factors, like allostatic load, air pollution, constraints on physical activity, lower socioeconomic status, or tobacco smoke exposure 24,29,30 …”

Structural racism in precision medicine: leaving no one behind

“…For instance, coupling epidemiological data with genetic data could provide some additional insights on how socio-cultural, economic and environmental factors influence biological pathways in minority groups and contribute to the pathogenesis of certain diseases (e.g. heart disease) [23].…”

Evolving Paradigm of Precision Medicine in Cardiovascular Disease.

“…This is where modern precision medicine approaches have stepped in CVD. Protein interaction networktargeted therapy that uses a combination therapy strategy targeting multiple steps in a signalling pathway or network identified by deep phenotyping, is such an example [32][33][34][35][36][37].…”