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

Christopher Semsarian, Jodie Ingles, Samantha Barratt Ross, Sally L. Dunwoodie, Richard D. Bagnall, Jason C. Kovacic

Research output: Contribution to journalReview articlepeer-review

11 Citations (Scopus)


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.

Original languageEnglish
Pages (from-to)2517-2530
Number of pages14
JournalJournal of the American College of Cardiology
Issue number20
Publication statusPublished - 25 May 2021
Externally publishedYes

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