Precision medicine strives to delineate disease using multiple data sources-from genomics to digital health metrics-in order to be more precise and accurate in our diagnoses, definitions, and treatments of disease subtypes. By defining disease at a deeper level, we can treat patients based on an understanding of the molecular underpinnings of their presentations, rather than grouping patients into broad categories with one-size-fits-all treatments. In this review, the authors examine how precision medicine, specifically that surrounding genetic testing and genetic therapeutics, has begun to make strides in both common and rare cardiovascular diseases in the clinic and the laboratory, and how these advances are beginning to enable us to more effectively define risk, diagnose disease, and deliver therapeutics for each individual patient.
Keywords: CAD, coronary artery disease; CF, cystic fibrosis; CHD, coronary heart disease; CML, chronic myelogenous leukemia; CRS, conventional risk score; CVD, cardiovascular disease; CaM, calmodulin; DCM, dilated cardiomyopathy; DMD, Duchenne muscular dystrophy; FH, familial hypercholesterolemia; GRS, genomic risk score; HCM, hypertrophic cardiomyopathy; HDR, homology directed repair; IVF, in vitro fertilization; LDL-C, low-density lipoprotein cholesterol; LQTS, long QT syndrome; NGS, next-generation sequencing; PGD, preimplantation genetic diagnosis; SNP, single nucleotide polymorphism; genome sequencing; genomics; iPSC, induced pluripotent stem cells; precision medicine; ssODN, single-stranded oligodeoxynucleotide; targeted therapeutics.