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

doi:10.1016/j.jacc.2020.12.071

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

J Am Coll Cardiol. 2021 May 25;77(20):2517-2530. doi: 10.1016/j.jacc.2020.12.071.

Authors

Christopher Semsarian¹, Jodie Ingles², Samantha Barratt Ross³, Sally L Dunwoodie⁴, Richard D Bagnall³, Jason C Kovacic⁵

Affiliations

¹ Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia; Sydney Medical School Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia. Electronic address: christopher.semsarian@sydney.edu.au.
² Sydney Medical School Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, New South Wales, Australia; Cardio Genomics Program at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia.
³ Agnes Ginges Centre for Molecular Cardiology at Centenary Institute, The University of Sydney, Sydney, New South Wales, Australia; Sydney Medical School Faculty of Medicine and Health, The University of Sydney, Sydney, New South Wales, Australia.
⁴ Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia; St. Vincent's Clinical School, UNSW Sydney, Kensington, New South Wales, Australia.
⁵ Victor Chang Cardiac Research Institute, Darlinghurst, New South Wales, Australia; St. Vincent's Clinical School, UNSW Sydney, Kensington, New South Wales, Australia; Zena and Michael A. Wiener Cardiovascular Institute, Icahn School of Medicine at Mount Sinai, New York, New York, USA. Electronic address: j.kovacic@victorchang.edu.au.

PMID: 34016265
DOI: 10.1016/j.jacc.2020.12.071

Abstract

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.

Keywords: cardiovascular; genetics; precision medicine.

Publication types

Research Support, N.I.H., Extramural
Research Support, Non-U.S. Gov't
Review

MeSH terms

Cardiovascular Diseases / genetics*
Genetic Testing
Genetic Variation
Humans
Inheritance Patterns
Phenotype
Precision Medicine*

Abstract

Publication types

MeSH terms

Grants and funding