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Review
. 2024 Mar;26(3):135-146.
doi: 10.1007/s11886-023-02003-4. Epub 2024 Jan 26.

The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape

Nosheen Reza  1 , Raye L Alford  2 , John W Belmont  2 , Nicholas Marston  3
Affiliations
Review

The Expansion of Genetic Testing in Cardiovascular Medicine: Preparing the Cardiology Community for the Changing Landscape

Nosheen Reza et al. Curr Cardiol Rep. 2024 Mar.

Abstract

Purpose of review: Pathogenic DNA variants underlie many cardiovascular disease phenotypes. The most well-recognized of these include familial dyslipidemias, cardiomyopathies, arrhythmias, and aortopathies. The clinical presentations of monogenic forms of cardiovascular disease are often indistinguishable from those with complex genetic and non-genetic etiologies, making genetic testing an essential aid to precision diagnosis.

Recent findings: Precision diagnosis enables efficient management, appropriate use of emerging targeted therapies, and follow-up of at-risk family members. Genetic testing for these conditions is widely available but under-utilized. In this review, we summarize the potential benefits of genetic testing, highlighting the specific cardiovascular disease phenotypes in which genetic testing should be considered, and how clinicians can integrate guideline-directed genetic testing into their practice.

Keywords: Cardiovascular genetics; Genetic testing; Genetics; Inherited heart disease.

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Conflict of interest statement

N.M, and R.L.A. report no relevant disclosures. J.W.B. owns stock in Illumina, Inc. N.R. reports speaking honoraria from Zoll Inc. and personal fees for the Advisory board from Roche Diagnostics. N.M. reports grant support from Amgen, Ionis, Pfizer, Novartis, AstraZeneca; and personal fees from Beckman Coulter and Amgen; and honoraria/CME program from Medical Education Speakers Network (MESN).

Figures

Fig. 1
Fig. 1
Clinical utilities of cardiovascular genetic testing. Genetic testing supports physician diagnostic and therapeutic decision making and adds important new information of use to patients and their families
Fig. 2
Fig. 2
The genetic testing process. Selection of patients for testing is the most impactful step in the diagnostic process. Resources are available to help with test selection and the clinical interpretation of the test results
See this image and copyright information in PMC

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