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

European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death
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.
1018-4813
1763-1773
Fellmann, Florence
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van El, Carla G.
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Charron, Philippe
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Michaud, Katarzyna
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Howard, Heidi C.
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Boers, Sarah N.
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Clarke, Angus J.
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Duguet, Anne Marie
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Forzano, Francesca
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Kauferstein, Silke
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Kayserili, Hülya
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Lucassen, Anneke
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Mendes, Álvaro
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Patch, Christine
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Radojkovic, Dragica
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Rial-Sebbag, Emmanuelle
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Sheppard, Mary N.
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Tassé, Anne Marie
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Temel, Sehime G.
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Sajantila, Antti
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Basso, Cristina
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Wilde, Arthur A.M.
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Cornel, Martina C.
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Fellmann, Florence
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van El, Carla G.
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Charron, Philippe
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Michaud, Katarzyna
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Howard, Heidi C.
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Boers, Sarah N.
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Clarke, Angus J.
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Duguet, Anne Marie
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Forzano, Francesca
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Kauferstein, Silke
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Kayserili, Hülya
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Lucassen, Anneke
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Mendes, Álvaro
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Patch, Christine
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Radojkovic, Dragica
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Rial-Sebbag, Emmanuelle
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Sheppard, Mary N.
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Tassé, Anne Marie
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Temel, Sehime G.
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Sajantila, Antti
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Basso, Cristina
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Wilde, Arthur A.M.
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Cornel, Martina C.
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Fellmann, Florence, van El, Carla G., Charron, Philippe, Michaud, Katarzyna, Howard, Heidi C., Boers, Sarah N., Clarke, Angus J., 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 (12), 1763-1773. (doi:10.1038/s41431-019-0445-y).

Record type: Article

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.

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More information

Accepted/In Press date: 21 May 2019
e-pub ahead of print date: 24 June 2019
Published date: 1 December 2019

Identifiers

Local EPrints ID: 444521
URI: http://eprints.soton.ac.uk/id/eprint/444521
ISSN: 1018-4813
PURE UUID: 4b3fadc5-e344-4db8-a5cc-4b00ce2f9870
ORCID for Anneke Lucassen: ORCID iD orcid.org/0000-0003-3324-4338

Catalogue record

Date deposited: 22 Oct 2020 16:33
Last modified: 26 Nov 2021 02:45

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Contributors

Author: Florence Fellmann
Author: Carla G. van El
Author: Philippe Charron
Author: Katarzyna Michaud
Author: Heidi C. Howard
Author: Sarah N. Boers
Author: Angus J. Clarke
Author: Anne Marie Duguet
Author: Francesca Forzano
Author: Silke Kauferstein
Author: Hülya Kayserili
Author: Anneke Lucassen ORCID iD
Author: Álvaro Mendes
Author: Christine Patch
Author: Dragica Radojkovic
Author: Emmanuelle Rial-Sebbag
Author: Mary N. Sheppard
Author: Anne Marie Tassé
Author: Sehime G. Temel
Author: Antti Sajantila
Author: Cristina Basso
Author: Arthur A.M. Wilde
Author: Martina C. Cornel

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