Literature DB >> 25066489

The value of cardiac genetic testing.

Jodie Ingles1, Christopher Semsarian2.   

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.
Copyright © 2014 Elsevier Inc. All rights reserved.

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Year:  2014        PMID: 25066489     DOI: 10.1016/j.tcm.2014.05.009

Source DB:  PubMed          Journal:  Trends Cardiovasc Med        ISSN: 1050-1738            Impact factor:   6.677


  9 in total

Review 1.  Challenges and opportunities for integrating genetic testing into a diagnostic workflow: heritable long QT syndrome as a model.

Authors:  Ira M Lubin; Edward R Lockhart; Julie Frank; Vincent Y See; Sudhir Vashist; Carol Greene
Journal:  Diagnosis (Berl)       Date:  2019-07-09

2.  Personalized biochemistry and biophysics.

Authors:  Brett M Kroncke; Carlos G Vanoye; Jens Meiler; Alfred L George; Charles R Sanders
Journal:  Biochemistry       Date:  2015-04-15       Impact factor: 3.162

Review 3.  Molecular autopsy in victims of inherited arrhythmias.

Authors:  Christopher Semsarian; Jodie Ingles
Journal:  J Arrhythm       Date:  2015-11-19

Review 4.  Utility of genetic testing in athletes.

Authors:  Belinda Gray; Christopher Semsarian
Journal:  Clin Cardiol       Date:  2020-01-11       Impact factor: 2.882

5.  Rare Variants Associated with Arrhythmogenic Cardiomyopathy: Reclassification Five Years Later.

Authors:  Marta Vallverdú-Prats; Mireia Alcalde; Georgia Sarquella-Brugada; Sergi Cesar; Elena Arbelo; Anna Fernandez-Falgueras; Mónica Coll; Alexandra Pérez-Serra; Marta Puigmulé; Anna Iglesias; Victoria Fiol; Carles Ferrer-Costa; Bernat Del Olmo; Ferran Picó; Laura Lopez; Paloma Jordà; Ana García-Álvarez; Coloma Tirón de Llano; Rocío Toro; Simone Grassi; Antonio Oliva; Josep Brugada; Ramon Brugada; Oscar Campuzano
Journal:  J Pers Med       Date:  2021-02-26

6.  Importance of Dedicated Units for the Management of Patients With Inherited Arrhythmia Syndromes.

Authors:  Giulio Conte; Arthur Wilde; Elijah R Behr; Daniel Scherr; Radoslaw Lenarczyk; Estelle Gandjbachkh; Lia Crotti; Georgia Brugada-Sarquella; Tatjana Potpara
Journal:  Circ Genom Precis Med       Date:  2021-04-02

Review 7.  Human pluripotent stem cell models of cardiac disease: from mechanisms to therapies.

Authors:  Karina O Brandão; Viola A Tabel; Douwe E Atsma; Christine L Mummery; Richard P Davis
Journal:  Dis Model Mech       Date:  2017-09-01       Impact factor: 5.758

8.  Value of genetic testing in the prevention of coronary heart disease events.

Authors:  Yrjänä Hynninen; Miika Linna; Eeva Vilkkumaa
Journal:  PLoS One       Date:  2019-01-15       Impact factor: 3.240

9.  Development of a communication aid for explaining hypertrophic cardiomyopathy genetic test results.

Authors:  Yana Smagarinsky; Charlotte Burns; Catherine Spinks; Christopher Semsarian; Jodie Ingles
Journal:  Pilot Feasibility Stud       Date:  2017-11-09
  9 in total

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