The ColLaboratory, University of Lausanne, Lausanne, Switzerland.
Section Community Genetics, Department of Clinical Genetics and Amsterdam Public Health research institute, Amsterdam UMC, Vrije Universiteit Amsterdam, Amsterdam, The Netherlands.
Eur J Hum Genet. 2019 Dec;27(12):1763-1773. doi: 10.1038/s41431-019-0445-y. Epub 2019 Jun 24.
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.
心脏性猝死(SCD)占总死亡率的 10-20%,即每五个人中就有一个人最终会突然死亡。鉴于年轻患者 SCD 中存在大量遗传因素,尸检后的基因检测可能特别有助于阐明该亚组死亡原因的病因因素。负责遗传性心脏病的基因的鉴定导致了在世界许多国家开展了心脏基因咨询。现已有专家建议,强调了对受影响个体及其亲属进行基因检测和适当信息提供的重要性。然而,尸检后基因检测的背景引发了一些特殊的伦理、法律和实际(包括经济或财务)挑战。欧洲人类遗传学学会(ESHG)的公众和专业政策委员会与国际专家一起,在 Brocher 基金会和 ESHG 于 2016 年 11 月赞助的一次研讨会后制定了有关 SCD 管理的建议。这些建议已得到 ESHG 理事会、欧洲法律医学理事会、欧洲心脏病学会心肌和心包疾病工作组、ERN GUARD-HEART 和欧洲心血管病理学协会的认可。它们强调了增加医疗和法医解剖比例以及教育专业人员的重要性。多学科合作至关重要。应分配公共资金来实现这些目标,并允许进行公共卫生评估。