Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes JACC Focus Seminar 1/5

Our understanding of the genetic basis of cardiovascular diseases (CVDs) has evolved rapidly. This has resulted from a combination of dedicated research in well phenotyped CVD patients, the sequencing of the human genome, and the ready accessibility and decreasing cost of next-generation sequencing technologies. This increased knowledge of the genetic basis of CVDs has heralded the era of precision medicine. This encompasses many elements including improved diagnosis, family screening, assistance with reproductive decisions, targeted therapeutics guided by both phenotype and genotype, and providing important insights into risk stratification and prognosis. Furthermore, novel insights into genetic mechanisms, clinical rollout of polygenic risk scores for common CVDs, and the promise of genome editing approaches to effectively cure disease represent some of the exciting future endeavors that will change established clinical approaches. This Part 1 of a 5-part series focuses on the underpinnings and fundamental aspects of precision medicine. (J Am Coll Cardiol 2021;77:2517-30) (c) 2021 by the American College of Cardiology Foundation.

Automated summary

Rapid advancements in understanding the genetic basis of cardiovascular diseases have ushered in the era of precision medicine, involving improved diagnostics, family screening, and targeted therapeutics. Future endeavors include polygenic risk scores and genome editing approaches for effective disease treatment.