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Volume 10

Genetic counselling is key when performing any genetic testing.

Starting from the index case, and extending to the family members, genetic counselling is a continuous process which starts even before a genetic test is performed. During genetic counselling, the consequences of the result will be discussed considering variant(s) classification.

Regarding this, the result can have potential impact for the index case and its relatives (including children and/or future generations). Risk stratification will be addressed as well as the way to modulate risk. In this issue, we are discussing the role of genetic counselling in cardiology, highlighting important issues regarding its implementation in daily practice.

This Cardiovascular Genomics Insight is greatly enriched by the contributions of Mrs. Ruth Biller, a patient organisation representative (Germany), Mrs. Stephanie Oates (acting as genetic counsellor at the NHS, Great Ormond Street Hospital, London, UK), and Prof. Eloisa Arbustini (San Matteo Hospital, Pavia, Italy).

 

Enjoy this volume!  

How-to article

How to do a genetic test, and what to expect from the result? 

Clinical case

When and why to do genetic counselling? 

Quiz

Variants in daily practice: a few examples through a quiz

Interview

Interview - Genetic counselling in daily practice for the cardiologist

References

1- Genetic testing and counselling in the cardiomyopathies. ESC Congress 2023  

https://esc365.escardio.org/presentation/265469?query=genetic%20counseling  

2- Meet the Experts session : genetic variants in cardiovascular disease – what clinicians need to know. ESC Congress 2021  

https://esc365.escardio.org/session/32158?query=genetic%20variant%20interpretation  

3- Approaching genetic testing in cardiomyopathies: An article from the ESC Council for Cardiology Practice 

https://www.escardio.org/Journals/E-Journal-of-Cardiology-Practice/Volume-11/Approaching-genetic-testing-in-cardiomyopathies 

4- Importance of genetic testing in unexplained cardiac arrest : Comment by the ESC Working Group on Myocardial and Pericardial Diseases 

https://www.escardio.org/Working-groups/Working-Group-on-Myocardial-and-Pericardial-Diseases/Publications/Paper-of-the-Month/importance-of-genetic-testing-in-unexplained-cardiac-arrest 

5- How to interpret the pathogenicity of a genetic variant  

https://www.escardio.org/Councils/Council-on-Cardiovascular-Genomics/News/how-to-interpret-the-pathogenicity-of-a-genetic-variant 

6- Wilde A, Semsarian C, Márquez MF, et al. European Heart Rhythm Association (EHRA)/Heart Rhythm Society (HRS)/Asia Pacific Heart Rhythm Society (APHRS)/Latin American Heart Rhythm Society (LAHRS) expert consensus statement on state of genetic testing for cardiac diseases. EP Europace. 2022. 

https://academic.oup.com/europace/article/24/8/1307/6562982