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

被引：17

作者：

Semsarian, Christopher ^{[1
,2
,3
]}

Ingles, Jodie ^{[2
,3
,4
]}

Ross, Samantha Barratt ^{[1
,2
]}

Dunwoodie, Sally L. ^{[5
,6
]}

Bagnall, Richard D. ^{[1
,2
]}

Kovacic, Jason C. ^{[5
,6
,7
]}

机构：

[1] Univ Sydney, Centenary Inst, Agnes Ginges Ctr Mol Cardiol, Sydney, NSW, Australia

[2] Univ Sydney, Fac Med & Hlth, Sydney Med Sch, Sydney, NSW, Australia

[3] Royal Prince Alfred Hosp, Dept Cardiol, Sydney, NSW, Australia

[4] Univ Sydney, Centenary Inst, Cardio Genom Program, Sydney, NSW, Australia

[5] Victor Chang Cardiac Res Inst, Lowy Packer Bldg,405 Liverpool St, Darlinghurst, NSW 2010, Australia

[6] UNSW Sydney, St Vincents Clin Sch, Kensington, NSW, Australia

[7] Icahn Sch Med Mt Sinai, Zena & Michael A Wiener Cardiovasc Inst, New York, NY 10029 USA

来源：

JOURNAL OF THE AMERICAN COLLEGE OF CARDIOLOGY | 2021年 / 77卷 / 20期

基金：

美国国家卫生研究院; 澳大利亚国家健康与医学研究理事会; 英国医学研究理事会;

关键词：

genetics; precision medicine; cardiovascular; LONG QT SYNDROME; HYPERTROPHIC CARDIOMYOPATHY; CLINICAL VALIDITY; RISK; MUTATIONS; FAMILIES; GUIDELINES; DIAGNOSIS; FRAMEWORK; VARIANTS;

D O I：

10.1016/j.jacc.2020.12.071

中图分类号：

R5 [内科学];

学科分类号：

1002 ; 100201 ;

摘要：

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.

引用

页码：2517 / 2530

页数：14

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