Volume 10 - Genetic Counselling

GardioGenomics Insights

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 a 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 , and Prof. Eloisa Arbustini . Enjoy this volume!

Genetic counselling: When and Why?

scientific

10 Jun 2024

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

scientific

10 Jun 2024

Genetic counselling in daily practice for cardiologist

scientific

10 Jun 2024

Authors from Volume 10

Ms Stephanie Oates

Doctor Anna Garcia

Doctor Fernando de Frutos Seminario

Professor Antoine Bondue

Doctor Alessia Argiro

Professor Eloisa Arbustini

References

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

/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

/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

/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