The value of cardiac genetic testing

Jodie Ingles; Christopher Semsarian

doi:10.1016/j.tcm.2014.05.009

The value of cardiac genetic testing

Trends Cardiovasc Med. 2014 Aug;24(6):217-24. doi: 10.1016/j.tcm.2014.05.009. Epub 2014 Jun 3.

Authors

Jodie Ingles¹, Christopher Semsarian²

Affiliations

¹ Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, Australia.
² Agnes Ginges Centre for Molecular Cardiology, Centenary Institute, Sydney, New South Wales, Australia; Sydney Medical School, University of Sydney, Sydney, Australia; Department of Cardiology, Royal Prince Alfred Hospital, Sydney, Australia. Electronic address: c.semsarian@centenary.org.au.

PMID: 25066489
DOI: 10.1016/j.tcm.2014.05.009

Abstract

Genetic testing is an important and necessary aspect of the management of families with cardiac genetic conditions. Commercial genetic tests are available for most cardiac genetic diseases, and increasing uptake amongst patients has contributed to a vastly improved knowledge of the genetic basis of these diseases. The incredible advances in genetic technologies have translated to faster, more comprehensive, and inexpensive commercial genetic tests and has completely changed the landscape of commercial genetic testing in recent years. While there are enormous challenges, mostly relating to interpretation of variants, the value of a genetic diagnosis should not be underestimated. In almost all cases, the single greatest utility is for the predictive genetic testing of family members. This review will describe the value of cardiac genetic testing in the current climate of rapid genetic advancements.

Publication types

Research Support, Non-U.S. Gov't
Review

MeSH terms

Cardiovascular Diseases / genetics*
Family
Genetic Predisposition to Disease
Genetic Testing* / methods
Genetic Testing* / statistics & numerical data
Genetic Testing* / trends
Humans
Pedigree
Predictive Value of Tests
Prognosis