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Evaluating the survivor or the relatives of those who do not survive: the role of genetic testing

Published online by Cambridge University Press:  13 January 2017

David J. Tester  and
Michael J. Ackerman
David J. Tester
Affiliation:
Departments of Cardiovascular Diseases, Pediatrics and Molecular Pharmacology & Experimental Therapeutics, Divisions of Heart Rhythm Services and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, United States of America
Michael J. Ackerman*
Affiliation:
Departments of Cardiovascular Diseases, Pediatrics and Molecular Pharmacology & Experimental Therapeutics, Divisions of Heart Rhythm Services and Pediatric Cardiology, Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota, United States of America
*
Correspondence to: M. J. Ackerman, MD, PhD, Long QT Syndrome Genetic Heart Rhythm Clinic, the Mayo Clinic Windland Smith Rice Sudden Death Genomics Laboratory, Mayo Clinic, Rochester, Minnesota United States of America. Tel: 507 284 0101; Fax: 507 284 3757; E-mail: ackerman.michael@mayo.edu
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Abstract

The molecular millennium has bestowed clinicians and researchers with the essential tools to identify the underlying genetic substrates for thousands of genetic disorders, most of which are rare and follow Mendelian inheritance patterns. The genetic basis of potentially lethal and heritable cardiomyopathies and cardiac channelopathies has been identified and are now better understood. Genetic testing for several of these heritable conditions has made its transition from discovery through translation and have been commercially available clinical tests for over a decade. Now that clinical genetic testing is available more readily and delivers a disease-specific impact across the triad of medicine – diagnostic, prognostic, and therapeutic – it is important for the community of cardiologists to not only be familiar with the language of genomic medicine but to also be wiser users and even wiser interpreters of genetic testing so that wise decisions can be rendered for those patients and their families being evaluated with respect to the presence or absence of one of these potentially lethal yet highly treatable genetic disorders. The purpose of this review is to provide the reader with a foundational understanding of genetic testing in clinical cardiology. Here, we will present some benefits of genetic testing: indications for either post-mortem genetic testing for the major cardiomyopathies and channelopathies or pre-mortem genetic testing among the decedent’s surviving relatives; the need for careful interpretation of genetic testing results; the importance of genetic counselling; and some points on the ethical and societal implications of genetic testing.

Keywords

Geneticsgenetic testingarrhythmiacardiomyopathylong QT syndrome
Type
Original Articles
Information
Cardiology in the Young , Volume 27 , Supplement S1: Sudden Cardiac Arrest in the Young: A Contemporary Perspective , January 2017 , pp. S19 - S24
Copyright
© Cambridge University Press 2017 

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