Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes

Semsarian, Christopher and Ingles, Jodie and Ross, Samantha Barratt and Dunwoodie, Sally L. and Bagnall, Richard D. and Kovacic, Jason C. (2021) Precision Medicine in Cardiovascular Disease: Genetics and Impact on Phenotypes. Journal of the American College of Cardiology, 77 (20). pp.2517-2530. ISSN 07351097

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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.

Item Type: Article
Subjects: R Medicine > R Medicine (General)
Depositing User: Repository Administrator
Date Deposited: 31 Jul 2021 05:41
Last Modified: 31 Jul 2021 05:41

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