Precision Cardiovascular Medicine: State of Genetic Testing

In the 15 years following the release of the first complete human genome sequences, our understanding of rare and common genetic variation as determinants of cardiovascular disease susceptibility, prognosis, and therapeutic response has grown exponentially. As such, the use of genomics to enhance th...

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Veröffentlicht in:	Mayo Clinic proceedings Jg. 92; H. 4; S. 642 - 662
Hauptverfasser:	Giudicessi, John R., Kullo, Iftikhar J., Ackerman, Michael J.
Format:	Journal Article
Sprache:	Englisch
Veröffentlicht:	England Elsevier Inc 01.04.2017 Frontline Medical Communications Inc Elsevier Limited
Schlagworte:	Cardiac arrhythmia Cardiomyopathy Cardiovascular Agents - pharmacology Cardiovascular disease Cardiovascular diseases Cardiovascular Diseases - drug therapy Cardiovascular Diseases - genetics Care and treatment Diagnosis Drug dosages Forecasts and trends Genetic aspects Genetic counseling Genetic Predisposition to Disease Genetic testing Genetic Testing - methods Genetics Genome-wide association studies Genome-Wide Association Study Genomes Genomics Genomics - methods Health risk assessment Heart Humans Internal Medicine Medicine Pharmacogenetics - methods Pharmacogenomics Practice guidelines (Medicine) Precision medicine Precision Medicine - methods Prognosis Regulatory agencies FH RCT GWAS WES LDL-C HRS GRS WEMA SUDY SNP MFS LVNC ACMG BrS AF LQTS ACM DCM CVD EHRA HCM CPVT SCD VUS RCM CHD Heart Rhythm Society restrictive cardiomyopathy Marfan syndrome atrial fibrillation familial hypercholesterolemia Brugada syndrome long QT syndrome left ventricular noncompaction low-density lipoprotein cholesterol sudden cardiac death American College of Medical Genetics and Genomics whole-exome sequencing–based molecular autopsy arrhythmogenic cardiomyopathy European Heart Rhythm Association single-nucleotide polymorphism dilated cardiomyopathy cardiovascular disease variant of unknown/uncertain significance genetic risk score randomized controlled trial sudden unexplained death in the young catecholaminergic polymorphic ventricular tachycardia genome-wide association study coronary heart disease hypertrophic cardiomyopathy whole-exome sequencing
ISSN:	0025-6196, 1942-5546, 1942-5546
Online-Zugang:	Volltext
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Beschreibung
Zusammenfassung:	In the 15 years following the release of the first complete human genome sequences, our understanding of rare and common genetic variation as determinants of cardiovascular disease susceptibility, prognosis, and therapeutic response has grown exponentially. As such, the use of genomics to enhance the care of patients with cardiovascular diseases has garnered increased attention from clinicians, researchers, and regulatory agencies eager to realize the promise of precision genomic medicine. However, owing to a large burden of “complex” common diseases, emphasis on evidence-based practice, and a degree of unfamiliarity/discomfort with the language of genomic medicine, the development and implementation of genomics-guided approaches designed to further individualize the clinical management of a variety of cardiovascular disorders remains a challenge. In this review, we detail a practical approach to genetic testing initiation and interpretation as well as review the current state of cardiovascular genetic and pharmacogenomic testing in the context of relevant society and regulatory agency recommendations/guidelines.
Bibliographie:	ObjectType-Article-1 SourceType-Scholarly Journals-1 ObjectType-Feature-2 content type line 14 ObjectType-Review-3 content type line 23
ISSN:	0025-6196 1942-5546 1942-5546
DOI:	10.1016/j.mayocp.2017.01.015