Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice.

Medeiros Domingo, Argelia; Bolliger, Stephan; Gräni, Christoph; Rieubland, Claudine; Hersch, Deborah; Asatryan, Babken; Schyma, Christian; Saguner, Ardan Muammer; Wyler, Daniel; Bhuiyan, Zahir; Fellman, Florence; Osculati, Antonio Marco; Ringger, Rebekka; Fokstuen, Siv; Sabatasso, Sara; Wilhelm, Matthias; Michaud, Katarzyna (2018). Recommendations for genetic testing and counselling after sudden cardiac death: practical aspects for Swiss practice. Swiss medical weekly, 148, w14638. EMH Schweizerischer Ärzteverlag 10.4414/smw.2018.14638

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There is a need to standardise, within a coordinated Swiss framework, the practical aspects of genetic testing and genetic counselling on possibly inherited cardiovascular disorders in relatives of a sudden cardiac death (SCD) victim. Because of the major advances in genetic investigation techniques and recent publication of international guidelines in the field of cardiology, genetics and pathology, we consider it important to summarise the current evidence and propose an optimal approach to post-mortem genetic investigation for SCD victims and their families in Switzerland. In this article, we discuss important technical, financial and medico-ethical aspects, and provide updated information on specific situations in which forensic pathologists, general practitioners and cardiologists should suspect a genetic origin of the SCD. At present, the principles of benefit, the duty to warn and the impact of genetic information for family members at risk are considered as strong justifications for post-mortem disclosure and prevail over the arguments of respect for a deceased person's privacy and confidentiality. This paper underlines also the need to update and improve the general knowledge concerning the genetic risk of cardiovascular pathologies, the importance to perform an autopsy and post-mortem genetic testing in SCD victims, and to develop standardized post-mortem disclosure policy at national and international levels for SCD cases and relatives.

Item Type:

Journal Article (Review Article)

Division/Institute:

04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Heart Surgery
04 Faculty of Medicine > Department of Cardiovascular Disorders (DHGE) > Clinic of Cardiology
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Anatomy
04 Faculty of Medicine > Pre-clinic Human Medicine > Institute of Anatomy > Topographical and Clinical Anatomy
04 Faculty of Medicine > Service Sector > Institute of Legal Medicine > Forensic Medicine
04 Faculty of Medicine > Service Sector > Institute of Pathology > Autopsy
02 Faculty of Law > Management im Gesundheitswesen (MIG)
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Kardiologie
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > DBMR Forschung Mu35 > Forschungsgruppe Kardiologie

04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR)
04 Faculty of Medicine > Pre-clinic Human Medicine > BioMedical Research (DBMR) > Unit Childrens Hospital > Forschungsgruppe Humangenetik
04 Faculty of Medicine > Department of Gynaecology, Paediatrics and Endocrinology (DFKE) > Clinic of Paediatric Medicine
04 Faculty of Medicine > Service Sector > Institute of Legal Medicine

UniBE Contributor:

Medeiros Domingo, Argelia, Bolliger, Stephan, Gräni, Christoph, Rieubland, Claudine, Asatryan, Babken, Schyma, Christian, Saguner, Ardan Muammer, Wyler, Daniel, Ringger, Rebekka, Sabatasso, Sara, Wilhelm, Matthias

Subjects:

600 Technology > 610 Medicine & health
300 Social sciences, sociology & anthropology > 360 Social problems & social services

ISSN:

1424-7860

Publisher:

EMH Schweizerischer Ärzteverlag

Language:

English

Submitter:

Anette van Dorland

Date Deposited:

07 Mar 2019 11:17

Last Modified:

27 Feb 2024 14:28

Publisher DOI:

10.4414/smw.2018.14638

PubMed ID:

30044475

BORIS DOI:

10.7892/boris.123121

URI:

https://boris.unibe.ch/id/eprint/123121

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