European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death

Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J. ORCID: https://orcid.org/0000-0002-1200-9286, Duguet, Anne-Marie, Forzano, Francesca, Kauferstein, Silke, Kayserili, Hülya, Lucassen, Anneke, Mendes, Álvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tassé, Anne-Marie, Temel, Sehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M. and Cornel, Martina C. 2019. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. European Journal of Human Genetics 27 , pp. 1763-1773. 10.1038/s41431-019-0445-y

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Abstract

Sudden cardiac death (SCD) accounts for 10–20% of total mortality, i.e., one in five individuals will eventually die suddenly. Given the substantial genetic component of SCD in younger cases, postmortem genetic testing may be particularly useful in elucidating etiological factors in the cause of death in this subset. The identification of genes responsible for inherited cardiac diseases have led to the organization of cardiogenetic consultations in many countries worldwide. Expert recommendations are available, emphasizing the importance of genetic testing and appropriate information provision of affected individuals, as well as their relatives. However, the context of postmortem genetic testing raises some particular ethical, legal, and practical (including economic or financial) challenges. The Public and Professional Policy Committee of the European Society of Human Genetics (ESHG), together with international experts, developed recommendations on management of SCD after a workshop sponsored by the Brocher Foundation and ESHG in November 2016. These recommendations have been endorsed by the ESHG Board, the European Council of Legal Medicine, the European Society of Cardiology working group on myocardial and pericardial diseases, the ERN GUARD-HEART, and the Association for European Cardiovascular Pathology. They emphasize the importance of increasing the proportion of both medical and medicolegal autopsies and educating the professionals. Multidisciplinary collaboration is of utmost importance. Public funding should be allocated to reach these goals and allow public health evaluation.

Item Type:	Article
Date Type:	Publication
Status:	Published
Schools:	Medicine
Publisher:	Nature Publishing Group
ISSN:	1018-4813
Date of First Compliant Deposit:	24 July 2019
Date of Acceptance:	21 May 2019
Last Modified:	03 May 2023 05:01
URI:	https://orca.cardiff.ac.uk/id/eprint/124459

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