Introduction to Precision Medicine: Minority Populations and Cardiovascular Health

Abstract

Genomic medicine is the foundation for precision medicine. Classically genomic medicine focuses on rare diseases including syndromic conditions, inborn errors of metabolism, and well-known conditions such as sickle cell anemia. Rare forms of heart disease include hereditary aortopathies, cardiomyopathies, channelopathies, familial hypercholesterolemia, and rare syndromic conditions with cardiac features. These rare heritable forms of heart disease are classically described by their phenotypic presentation in addition to their genetic component. In both rare “heritable” disease and somatic “acquired” diseases like cancer, the identification of the genetic component is a key determinant for definitive diagnosis, prognosis, and treatment. Precision medicine is not only elevating the scale and approach to detecting and treating these diseases but is also catalyzing the extension of genomics beyond rare diseases and cancer to incorporate complex common diseases such as heart disease. This transformational shift in medical paradigms is supported in part through technological innovations and a growing molecular knowledge base. However, this growing knowledge base is complicated by a lack of diversity. This lack of diversity creates a bias in knowledge and jeopardizes the generalizability and implementation of precision medicine and furthers existing disparities. Evidence of this is exampled by the commercial availability of polygenic risk testing, some of which are available to White patients only. Without an equity first approach, the benefits of precision medicine may not be in the position to benefit all. To this end, we discuss precision medicine in the context of minority populations and cardiovascular health.