Kristen Bede1, Wai H Wilson Tang1,2. 1. Center for Clinical Genomics. 2. Heart and Vascular Institute, the Cleveland Clinic Foundation, Cleveland, Ohio, USA.
Abstract
PURPOSE OF REVIEW: Precision medicine is the concept of disease treatment and prevention using an individual's genomic profile in addition to personal and environmental factors. This review outlines examples of new biomarker strategies that enable the practice of precision cardiovascular medicine. RECENT FINDINGS: Although commonly attributed to identifying causative genetic variants, mono-genetic causes of cardiovascular diseases (CVD) are not common and largely focused on lipoprotein analyses. Nevertheless, rare clinical presentations in families with extreme phenotypes can sometimes identify novel pathways that can serve as therapeutic targets, such as the discovery of PCSK9 inhibitors for familial hypercholesterolemia or small molecular inhibitors of myosin ATPase activities for hypertrophic cardiomyopathy. Polygenetic risks scores can also identify high-risk cohorts before their clinical manifestations. Novel metabolomic insights can also lead to unexpected modulators of CVD susceptibility, such as nutrient-induced gut microbiota-derived metabolic pathways. SUMMARY: Adequate knowledge systems and data infrastructure are necessary for clinicians to take into account both genetic and environmental factors to operationalize precision medicine and to prevent CVD.
PURPOSE OF REVIEW: Precision medicine is the concept of disease treatment and prevention using an individual's genomic profile in addition to personal and environmental factors. This review outlines examples of new biomarker strategies that enable the practice of precision cardiovascular medicine. RECENT FINDINGS: Although commonly attributed to identifying causative genetic variants, mono-genetic causes of cardiovascular diseases (CVD) are not common and largely focused on lipoprotein analyses. Nevertheless, rare clinical presentations in families with extreme phenotypes can sometimes identify novel pathways that can serve as therapeutic targets, such as the discovery of PCSK9 inhibitors for familial hypercholesterolemia or small molecular inhibitors of myosin ATPase activities for hypertrophic cardiomyopathy. Polygenetic risks scores can also identify high-risk cohorts before their clinical manifestations. Novel metabolomic insights can also lead to unexpected modulators of CVD susceptibility, such as nutrient-induced gut microbiota-derived metabolic pathways. SUMMARY: Adequate knowledge systems and data infrastructure are necessary for clinicians to take into account both genetic and environmental factors to operationalize precision medicine and to prevent CVD.