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

Fellmann, F; van El, CG; Charron, P; Michaud, K; Howard, HC; Boers, SN; Clarke, AJ; Duguet, A-M; Forzano, F; Kauferstein, S; et al. Fellmann, F; van El, CG; Charron, P; Michaud, K; Howard, HC; Boers, SN; Clarke, AJ; Duguet, A-M; Forzano, F; Kauferstein, S; Kayserili, H; Lucassen, A; Mendes, Á; Patch, C; Radojkovic, D; Rial-Sebbag, E; Sheppard, MN; Tassé, A-M; Temel, SG; Sajantila, A; Basso, C; Wilde, AAM; Cornel, MC; on behalf of European Society of Human Genetics, European Counci (2019) European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. Eur J Hum Genet, 27 (12). pp. 1763-1773. ISSN 1476-5438 https://doi.org/10.1038/s41431-019-0445-y
SGUL Authors: Sheppard, Mary Noelle

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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
Additional Information: © The Author(s) 2019. This article is published with open access Open Access This article is licensed under a Creative Commons Attribution 4.0 International License, which permits use, sharing, adaptation, distribution and reproduction in any medium or format, as long as you give appropriate credit to the original author(s) and the source, provide a link to the Creative Commons license, and indicate if changes were made. The images or other third party material in this article are included in the article’s Creative Commons license, unless indicated otherwise in a credit line to the material. If material is not included in the article’s Creative Commons license and your intended use is not permitted by statutory regulation or exceeds the permitted use, you will need to obtain permission directly from the copyright holder. To view a copy of this license, visit http://creativecommons.org/licenses/by/4.0/.
Keywords: on behalf of European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group on myocardial and pericardial diseases, European Reference Network for rare, low prevalence and complex diseases of the heart, 0604 Genetics, Genetics & Heredity
SGUL Research Institute / Research Centre: Academic Structure > Molecular and Clinical Sciences Research Institute (MCS)
Journal or Publication Title: Eur J Hum Genet
ISSN: 1476-5438
Language: eng
Dates:
DateEvent
December 2019Published
24 June 2019Published Online
21 May 2019Accepted
Publisher License: Creative Commons: Attribution 4.0
PubMed ID: 31235869
Go to PubMed abstract
URI: https://openaccess.sgul.ac.uk/id/eprint/111012
Publisher's version: https://doi.org/10.1038/s41431-019-0445-y

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