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

Florence Fellmann*, Carla G. van El, Philippe Charron, Katarzyna Michaud, Heidi C. Howard, Sarah N. Boers, Angus J. Clarke, Anne Marie Duguet, Francesca Forzano, Silke Kauferstein, Hülya Kayserili, Anneke Lucassen, Álvaro Mendes, Christine Patch, Dragica Radojkovic, Emmanuelle Rial-Sebbag, Mary N. Sheppard, Anne Marie Tassé, Sehime G. Temel, Antti SajantilaCristina Basso, Arthur A.M. Wilde, Martina C. Cornel, 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 (ERN GUARD-Heart), Association for European Cardiovascular Pathology

*Corresponding author for this work

Research output: Contribution to journalArticleAcademicpeer-review

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.

Original languageEnglish
Pages (from-to)1763-1773
JournalEuropean Journal of Human Genetics
Volume27
Issue number12
Early online date24 Jun 2019
DOIs
Publication statusPublished - 1 Dec 2019

Cite this

Fellmann, F., van El, C. G., Charron, P., Michaud, K., Howard, H. C., Boers, S. N., ... 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 (ERN GUARD-Heart), Association for European Cardiovascular Pathology (2019). European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death. European Journal of Human Genetics, 27(12), 1763-1773. https://doi.org/10.1038/s41431-019-0445-y, https://doi.org/10.1038/s41431-019-0445-y