Department of Congenital Heart Diseases, Outpatient Department of Genetic Arrhythmias, Cardinal Wyszynski National Institute of Cardiology, Warszawa, Poland.
Genetic Clinic, Independent Public Clinical Hospital No. 1 named after Prof. Stanisław Szyszko, Medical University of Silesia in Katowice, Zabrze, Poland.
Kardiol Pol. 2024;82(6):687. doi: 10.33963/v.phj.101365.
According to the latest guidelines of European and American medical societies, genetic testing (GT) is essential in cardiovascular diseases for establishing diagnosis, predicting prognosis, enabling initiation of disease-modifying therapy, and preventing sudden cardiac death. The GT result may be relevant for cascade GT in the patient's relatives, for planning his/her profession and physical activity, and for procreative counseling. This position statement has been prepared due to the scarcity of GT in cardiovascular diseases in Poland and the need to expand its availability. We give a concise description of the genetic background of cardiomyopathies, channelopathies, aortopathies, familial hypercholesterolemia, pheochromocytomas, and paragangliomas. The article discusses various aspects of GT in specific populations, such as children or athletes, and also presents prenatal genetic diagnostics. We propose recommendations for GT and counselling, which take into account Polish needs and capabilities. We give an outline of legal regulations, good clinical practice in GT with respect for patient rights, the role of cardiologists and clinical geneticists in GT planning and post-test counseling, and the requirements for laboratories performing genetic tests. The Polish Cardiac Society and Polish Society of Human Genetics experts speak with one voice with cardiovascular patient communities to underline the need for a law on GT and increasing the availability of GT for cardiovascular patients.
根据欧美医学协会的最新指南,遗传检测(GT)对于心血管疾病的诊断、预后预测、启动疾病修正治疗以及预防心源性猝死至关重要。GT 结果可能与患者亲属的级联 GT、职业和体育活动规划以及生殖咨询相关。由于波兰在心血管疾病中的 GT 检测稀缺,且需要扩大其可用性,因此制定了本立场声明。我们简要描述了心肌病、通道病、大动脉病、家族性高胆固醇血症、嗜铬细胞瘤和副神经节瘤的遗传背景。本文还讨论了 GT 在特定人群(如儿童或运动员)中的各种应用,以及产前遗传诊断。我们提出了 GT 和咨询的建议,这些建议考虑到了波兰的需求和能力。我们概述了法律规定、GT 中的良好临床实践(尊重患者权利)、心脏病专家和临床遗传学家在 GT 规划和检测后咨询中的作用,以及进行遗传检测的实验室的要求。波兰心脏病学会和波兰人类遗传学学会的专家与心血管病患者群体一道呼吁制定 GT 法,以增加心血管病患者 GT 的可及性。