Charron P
Département de génétique, cytogénétique et embryologie, CHU La Pitié-Salpêtrière, 47, bd de l'Hôpital 75013, Paris.
Arch Mal Coeur Vaiss. 2003 Nov;96(11):1131-4.
Progress in the recognition of genetic factors implicated in cardiovascular diseases is now such that it poses the question of how to integrate these data into a clinical perspective. To be able to give the most relevant information to the patient and his family, and to use this information to optimise the medical management have become new objectives. This can only be achieved with the close collaboration between cardiologist and the genticist, who knows the legislative framework which governs the performance of genetic tests. During the genetic counselling consultation, and after time for compiling information on the disease and the family, the geneticist gives the most suitable information on the genetic nature of the disease. Depending on the illness, cardiological investigation for the relatives could be advocated. The performance of a molecular test is then discussed, as a function of its feasibility, relevance and the wishes of the patient. The complexity of the medical and psychological stakes varies according to the situation (presymptomatic diagnosis, prenatal diagnosis, diagnostic test, prognostic test) and the condition. In all cases, strict rules perfectly laid down by legislation must be respected, in such a way as to protect the patient from possible unfavourable repercussions and to assure him of better medical management and a greater well-being.
目前，在识别与心血管疾病相关的遗传因素方面取得的进展引发了一个问题，即如何将这些数据纳入临床视角。能够为患者及其家属提供最相关的信息，并利用这些信息优化医疗管理已成为新的目标。这只有通过心脏病专家和遗传学家的密切合作才能实现，遗传学家了解管理基因检测实施的立法框架。在遗传咨询过程中，在收集有关疾病和家族信息之后，遗传学家会提供关于疾病遗传性质的最合适信息。根据病情，可能会建议对亲属进行心脏病学检查。然后会根据分子检测的可行性、相关性和患者的意愿讨论是否进行该检测。医疗和心理风险的复杂性因情况（症状前诊断、产前诊断、诊断检测、预后检测）和病情而异。在所有情况下，都必须遵守法律明确规定的严格规则，以保护患者免受可能的不利影响，并确保为其提供更好的医疗管理和更高的幸福感。
