Abstract：
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.
摘要：
根据欧美医学会的最新指南，基因检测(GT)在心血管疾病的诊断中至关重要，预测预后，启动疾病改善治疗，预防心源性猝死.GT结果可能与患者亲属的级联GT相关，计划他/她的职业和身体活动，和生殖咨询。本立场声明是由于GT在波兰心血管疾病中的稀缺以及扩大其可用性的需要而准备的。我们简要描述了心肌病的遗传背景，信道病,主动脉病变,家族性高胆固醇血症，嗜铬细胞瘤,和副神经节瘤。本文讨论了特定人群中GT的各个方面，如儿童或运动员，还介绍了产前遗传诊断。我们提出了GT和咨询的建议，考虑到波兰的需求和能力。我们给出了法律法规的提纲,GT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计划和测试后咨询中的作用，以及对进行基因测试的实验室的要求。波兰心脏学会和波兰人类遗传学学会专家与心血管患者社区发表了一致的意见，强调需要制定一项关于GT的法律，并增加心血管患者GT的可用性。
