Literature DB >> 28484805

[Practical guidelines for genetic testing in cardiovascular diseases].

W Reinhard1,2, T Trenkwalder3,4, H Schunkert3,4.   

Abstract

In the last decade, genetic testing for cardiovascular disorders has become more and more relevant. Progress in molecular genetics has led to new opportunities for diagnostics, improved risk prediction and could lead to novel therapeutic approaches. Genetic diagnostic testing is relevant for both confirming a diagnosis as well as deciding on therapeutic consequences, if applicable. Furthermore, predictive testing in family members for specific cardiovascular diseases is now a standard procedure in holistic patient management. The process of genetic testing as well as documentation requirements and discussion of test results with patients are subject to legal regulations. These regulations might be confusing for clinical practitioners/cardiologists. The aim of this article is to provide a clinical framework for genetic testing. First, we explain the legal and ethical background. Second, we illustrate the process of genetic testing step by step and present updates on remuneration. Finally, we discuss the significance of genetic testing and specific disease indications in cardiology.

Entities:  

Keywords:  Cardiology; Genetic consultation; Legal and ethical requirements; Predictive testing; Therapeutics

Mesh:

Year:  2017        PMID: 28484805     DOI: 10.1007/s00059-017-4571-4

Source DB:  PubMed          Journal:  Herz        ISSN: 0340-9937            Impact factor:   1.443


  5 in total

1.  [Guideline of the Genetic Diagnosis Commission (GEKO) for requirements of the qualification for and contents of genetic counseling in accordance with paragraph 23 Abs. 2 No. 2a and 23 Abs. 2 No. 3 GenDg.The 1 July 2011 version released and implemented 11 July 2011]].

Authors: 
Journal:  Bundesgesundheitsblatt Gesundheitsforschung Gesundheitsschutz       Date:  2011-11       Impact factor: 1.513

2.  Diagnosis of arrhythmogenic right ventricular cardiomyopathy/dysplasia: proposed modification of the Task Force Criteria.

Authors:  Frank I Marcus; William J McKenna; Duane Sherrill; Cristina Basso; Barbara Bauce; David A Bluemke; Hugh Calkins; Domenico Corrado; Moniek G P J Cox; James P Daubert; Guy Fontaine; Kathleen Gear; Richard Hauer; Andrea Nava; Michael H Picard; Nikos Protonotarios; Jeffrey E Saffitz; Danita M Yoerger Sanborn; Jonathan S Steinberg; Harikrishna Tandri; Gaetano Thiene; Jeffrey A Towbin; Adalena Tsatsopoulou; Thomas Wichter; Wojciech Zareba
Journal:  Eur Heart J       Date:  2010-02-19       Impact factor: 29.983

3.  HRS/EHRA expert consensus statement on the state of genetic testing for the channelopathies and cardiomyopathies this document was developed as a partnership between the Heart Rhythm Society (HRS) and the European Heart Rhythm Association (EHRA).

Authors:  Michael J Ackerman; Silvia G Priori; Stephan Willems; Charles Berul; Ramon Brugada; Hugh Calkins; A John Camm; Patrick T Ellinor; Michael Gollob; Robert Hamilton; Ray E Hershberger; Daniel P Judge; Hervè Le Marec; William J McKenna; Eric Schulze-Bahr; Chris Semsarian; Jeffrey A Towbin; Hugh Watkins; Arthur Wilde; Christian Wolpert; Douglas P Zipes
Journal:  Heart Rhythm       Date:  2011-08       Impact factor: 6.343

4.  Genetic counselling and testing in cardiomyopathies: a position statement of the European Society of Cardiology Working Group on Myocardial and Pericardial Diseases.

Authors:  Philippe Charron; Michael Arad; Eloisa Arbustini; Cristina Basso; Zofia Bilinska; Perry Elliott; Tiina Helio; Andre Keren; William J McKenna; Lorenzo Monserrat; Sabine Pankuweit; Andreas Perrot; Claudio Rapezzi; Arsen Ristic; Hubert Seggewiss; Irene van Langen; Luigi Tavazzi
Journal:  Eur Heart J       Date:  2010-09-07       Impact factor: 29.983

5.  2014 ESC Guidelines on diagnosis and management of hypertrophic cardiomyopathy: the Task Force for the Diagnosis and Management of Hypertrophic Cardiomyopathy of the European Society of Cardiology (ESC).

Authors:  Perry M Elliott; Aris Anastasakis; Michael A Borger; Martin Borggrefe; Franco Cecchi; Philippe Charron; Albert Alain Hagege; Antoine Lafont; Giuseppe Limongelli; Heiko Mahrholdt; William J McKenna; Jens Mogensen; Petros Nihoyannopoulos; Stefano Nistri; Petronella G Pieper; Burkert Pieske; Claudio Rapezzi; Frans H Rutten; Christoph Tillmanns; Hugh Watkins
Journal:  Eur Heart J       Date:  2014-08-29       Impact factor: 29.983

  5 in total
  2 in total

1.  [Prevention of cardiovascular diseases].

Authors:  J H Prochaska; N Arnold; C Jünger; T Münzel; P S Wild
Journal:  Herz       Date:  2018-02       Impact factor: 1.443

2.  [Meaningful diagnostics: genetics].

Authors:  Teresa Trenkwalder; Heribert Schunkert; Wibke Reinhard
Journal:  Herz       Date:  2020-02       Impact factor: 1.443

  2 in total

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