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

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State: Public
Version: Final published version
License: CC BY 4.0
Serval ID
serval:BIB_1F50978130CD
Type
Article: article from journal or magazin.
Publication sub-type
Review (review): journal as complete as possible of one specific subject, written based on exhaustive analyses from published work.
Collection
Publications
Institution
Title
European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death.
Journal
European journal of human genetics
Author(s)
Fellmann F., van El C.G., Charron P., Michaud K., Howard H.C., Boers S.N., Clarke A.J., Duguet A.M., Forzano F., Kauferstein S., Kayserili H., Lucassen A., Mendes Á., Patch C., Radojkovic D., Rial-Sebbag E., Sheppard M.N., Tassé A.M., Temel S.G., Sajantila A., Basso C., Wilde AAM, Cornel M.C.
Working group(s)
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
ISSN
1476-5438 (Electronic)
ISSN-L
1018-4813
Publication state
Published
Issued date
12/2019
Peer-reviewed
Oui
Volume
27
Number
12
Pages
1763-1773
Language
english
Notes
Publication types: Journal Article
Publication Status: ppublish
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.
Keywords
Autopsy, Death, Sudden, Cardiac/epidemiology, Death, Sudden, Cardiac/pathology, Death, Sudden, Cardiac/prevention & control, European Union/organization & administration, Genetic Testing/standards, Heart Diseases/genetics, Heart Diseases/mortality, Heart Diseases/pathology, Humans, Myocardium/pathology
Pubmed
Web of science
Open Access
Yes
Create date
26/07/2019 15:11
Last modification date
25/07/2020 6:19
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