Genetic testing in cardiovascular medicine: current landscape and future horizons.

Abstract:

PURPOSE OF REVIEW:The number of clinically available genetic tests for heritable cardiovascular diseases has recently increased because of novel gene discoveries and advancements in DNA sequencing technologies. The purpose of this review is to provide up-to-date genetic testing information and guidance on how to incorporate genetic testing into cardiovascular medicine. RECENT FINDINGS:Heritable cardiovascular conditions display vast genetic heterogeneity, genetic overlap between phenotypes, incomplete penetrance and variable expressivity, and are associated with risk for sudden cardiac death, making the practice of cardiovascular genetic medicine a great responsibility. Multigene testing panels now exist for many cardiovascular conditions, and test utility has recently been augmented by population-based genomic sequence datasets. Large amounts of DNA sequence data necessitate rigorous interpretation of this probabilistic information. Timely practice guidelines and expert statements have been published. SUMMARY:To fully realize the benefits of clinical genetic testing in cardiovascular medicine, clinicians must implement several components including judicious genetic testing, pretest and posttest genetic counseling, interpretation and application of genetic test results, and cascade family genetic testing and clinical screening. Components important to the proper integration of cardiovascular genetic medicine are offered.

journal_name

Curr Opin Cardiol

authors

Sturm AC,Hershberger RE

doi

10.1097/HCO.0b013e32835fb728

subject

Has Abstract

pub_date

2013-05-01 00:00:00

pages

317-25

issue

3

eissn

0268-4705

issn

1531-7080

pii

00001573-201305000-00009

journal_volume

28

pub_type

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