1. European recommendations integrating genetic testing into multidisciplinary management of sudden cardiac death
- Author
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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, Hulya, Lucassen, Anneke, Mendes, Alvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tasse, Anne-Marie, Temel, Sehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M., Cornel, Martina C., Benjamin, Caroline, Borry, Pascal, Clarke, Angus, Cordier, Christophe, Cornel, Martina, van El, Carla, Howard, Heidi, Melegh, Bela, Perola, Markus, Peterlin, Borut, Rogowski, Wolf, Soller, Maria, Stefansdottir, Vigdis, de Wert, Guido, Karabey, Hülya Kayserili (ORCID 0000-0003-0376-499X & YÖK ID 7945), 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, Lucassen, Anneke, Mendes, Alvaro, Patch, Christine, Radojkovic, Dragica, Rial-Sebbag, Emmanuelle, Sheppard, Mary N., Tasse, Anne-Marie, Temel, Şehime G., Sajantila, Antti, Basso, Cristina, Wilde, Arthur A. M., Cornel, Martina C., Benjamin, Caroline, Borry, Pascal, Clarke, Angus, Cordier, Christophe, Cornel, Martina, European Society of Human Genetics, European Council of Legal Medicine, European Society of Cardiology working group, European Reference Network for rare, low prevalence and complex diseases of the heart (ERN GUARD-Heart), Association for European Cardiovascular Pathology, School of Medicine, Department of Medical Genetics, Human genetics, APH - Personalized Medicine, APH - Quality of Care, Amsterdam Reproduction & Development (AR&D), Department of Forensic Medicine, University of Helsinki, University Management, Doctoral Programme in Biomedicine, Doctoral Programme in Population Health, PaleOmics Laboratory, Bursa Uludağ Üniversitesi/Tıp Fakültesi/Histoloji Ve Embriyoloji Ana Bilim Dalı., Temel, Sehime G., AAG-8385-2021, Université de Lausanne (UNIL), Vrije Universiteit Amsterdam [Amsterdam] (VU), Unité de Recherche sur les Maladies Cardiovasculaires, du Métabolisme et de la Nutrition = Institute of cardiometabolism and nutrition (ICAN), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP)-Sorbonne Université (SU), Sorbonne Université (SU), CHU Pitié-Salpêtrière [AP-HP], Sorbonne Université (SU)-Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), Centre Hospitalier Universitaire Vaudois [Lausanne] (CHUV), Uppsala Universitet [Uppsala], University Medical Center [Utrecht], Cardiff Metropolitan University, Epidémiologie et analyses en santé publique : risques, maladies chroniques et handicaps (LEASP), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées-Université Fédérale Toulouse Midi-Pyrénées, Université Toulouse III - Paul Sabatier (UT3), Université Fédérale Toulouse Midi-Pyrénées, Guy's and St Thomas' Hospital [London], Universitätsklinikum Frankfurt, Istanbul University, University of Southampton, Instituto de Investigação e Inovação em Saúde (I3S), Universidade do Porto, King‘s College London, Queen Mary University of London (QMUL), University of Belgrade [Belgrade], St George's, University of London, McGill University = Université McGill [Montréal, Canada], Universita degli Studi di Padova, University of Amsterdam [Amsterdam] (UvA), Cardiology, and ACS - Heart failure & arrhythmias
- Subjects
Collaborative care team ,Biochemistry & molecular biology ,[SDV]Life Sciences [q-bio] ,Sudden Cardiac Death ,Sports ,Athletes ,VARIANTS ,GUIDELINES ,Sudden cardiac death ,Biochemistry and molecular biology ,Genetics and heredity ,HARMONIZATION ,Organization and management ,Pathology ,Informed consent ,Cardiac muscle ,Genetics (clinical) ,Cause of death ,Priority journal ,0303 health sciences ,DIAGNOSTIC YIELD ,medicine.diagnostic_test ,Expert consensus statement ,Molecular autopsy ,Diagnostic yield ,Young ,Association ,Guidelines ,Harmonization ,Prevention ,Nationwide ,Variants ,030305 genetics & heredity ,Medical jurisprudence ,Genetics & heredity ,Pericardial disease ,1184 Genetics, developmental biology, physiology ,ASSOCIATION ,Health policy ,3. Good health ,Death ,Policy ,Medical genetics ,Autopsy ,Medical Genetics ,Cardiac ,Human ,medicine.medical_specialty ,Heart Diseases ,education ,Family history ,MEDLINE ,Context (language use) ,Heart disease ,Article ,03 medical and health sciences ,Health care policy ,Genetic screening ,medicine ,Genetics ,Humans ,European Union ,Genetic Testing ,Mortality ,EXPERT CONSENSUS STATEMENT ,Medicinsk genetik ,Genetic testing ,[SDV.GEN]Life Sciences [q-bio]/Genetics ,Genetic services ,business.industry ,Public health ,Myocardium ,DNA ,NATIONWIDE ,medicine.disease ,Sudden ,Myocardial disease ,PREVENTION ,Medical society ,Death, Sudden, Cardiac ,Gene identification ,MOLECULAR AUTOPSY ,Family medicine ,YOUNG ,3111 Biomedicine ,Medicolegal aspect ,business - 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., NA
- Published
- 2019
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