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Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration
JournalArticle (Originalarbeit in einer wissenschaftlichen Zeitschrift)
ID
1002517
Author(s)
Michaud, Katarzyna; Fellmann, Florence; Abriel, Hugues; Beckmann, Jacques S.; Mangin, Patrice; Elger, Bernice S.
Molecular autopsy in sudden cardiac death and its implication for families: discussion of the practical, legal and ethical aspects of the multidisciplinary collaboration
Journal
Swiss Medical Weekly
Volume
139
Number
49-50
Pages / Article-Number
712-8
Mesh terms
Arrhythmias, Cardiac, genetics; Autopsy; Cause of Death; Death, Sudden, Cardiac, pathology; Forensic Pathology, methods; Genetic Counseling, legislation & jurisprudence; Genetic Diseases, Inborn, genetics; Genetic Predisposition to Disease; Genetic Testing, legislation & jurisprudence; Humans; Interdisciplinary Communication; Molecular Diagnostic Techniques, ethics; Pathology, Molecular, legislation & jurisprudence; Practice Guidelines as Topic
Abstract
Sudden cardiac death (SCD) is a major cause of premature death in young adults and children in developed countries. Standard forensic autopsy procedures are often unsuccessful in determining the cause of SCD. Post-mortem genetic testing, also called molecular autopsy, has revealed that a non-negligible number of these deaths are a result of inherited cardiac diseases, including arrhythmic disorders such as congenital long QT syndrome and Brugada syndrome. Due to the heritability of these diseases, the potential implications for living relatives must be taken into consideration. Advanced diagnostic analyses, genetic counselling, and interdisciplinary collaboration should be integral parts of clinical and forensic practice. In this article we present a multidisciplinary collaboration established in Lausanne, with the goal of properly informing families of these pathologies and their implications for surviving family members. In Switzerland, as in many other countries, legal guidelines for genetic testing do not address the use of molecular tools for post-mortem genetic analyses in forensic practice. In this article we present the standard practice guidelines established by our multidisciplinary team.
