Dolbeault S, Flahault C, Stoppa-Lyonnet D, Brédart A
Psycho-Oncology Unit, Institut Curie, Paris, France.
Recent Results Cancer Res. 2006;168:23-36. doi: 10.1007/3-540-30758-3_3.
Cancer genetic counselling represents a very special situation of interaction between the geneticist and the counselee, marked by a number of specificities that account for its complexity. Cancer genetic counselling has multiple repercussions, such as identification of a deleterious genetic mutation associated with a high probability of developing breast and/or ovarian cancer, the implementation of preventive measures ranging from close surveillance to the decision to perform mutilating prophylactic surgical procedures, or the impact of the information on the other members of the counselee's family also concerned by the genetic risk. This chapter is based on a review of the literature that has been rapidly growing over recent years and on our clinical expertise as psycho-oncologists and geneticists. We will first present the reasons that make the information so critical. These reasons are both objective (complexity of the genetic information per se, difficulties of understanding the concept of risk) and subjective (information given to people with an emotionally charged family history and a perception of risks closely linked to their representation of cancer). At the same time, the counsellees are charged with the transmission of this information to members of their own family. We will then discuss the various modalities of communication in this setting. While unidirectional transfer of information from the geneticist to the counselee has been the preferred method in cancer genetics for a long time, a model based on patient-centered communication is more adequate in predictive medicine and allows shared decision making. In all cases, the different professionals involved in the process have to learn how to work in a performing cohesion. We also present the main guidelines on the subject and the various underlying objectives with regard to information delivery and the subject's personal experience. Although the psychological impact of genetic counselling consultations raises a number of questions, the results of preliminary studies are reassuring, demonstrating psychological benefits. However, a number of aspects concerning communication in predictive medicine remain to be investigated and improved.
癌症遗传咨询代表了遗传学家与咨询对象之间一种非常特殊的互动情况，其具有许多特殊性，这也说明了它的复杂性。癌症遗传咨询有多种影响，比如识别出与患乳腺癌和/或卵巢癌高概率相关的有害基因突变、实施从密切监测到决定进行致残性预防性手术等一系列预防措施，或者该信息对咨询对象家族中同样受遗传风险影响的其他成员所产生的影响。本章基于对近年来快速增长的文献的综述以及我们作为心理肿瘤学家和遗传学家的临床专业知识。我们将首先阐述使信息如此关键的原因。这些原因既有客观的（遗传信息本身的复杂性、理解风险概念的困难），也有主观的（向有情感负担的家族病史人群提供信息以及他们对风险的认知与他们对癌症的认知紧密相关）。与此同时，咨询对象还肩负着将此信息传递给其家族成员的责任。然后我们将讨论在这种情况下的各种沟通方式。虽然长期以来，从遗传学家到咨询对象的单向信息传递一直是癌症遗传学中首选的方法，但在预测医学中，基于以患者为中心的沟通模式更为合适，并且能够实现共同决策。在所有情况下，参与这一过程的不同专业人员都必须学会如何在高效协作中开展工作。我们还介绍了关于这个主题的主要指导方针以及在信息传递和对象个人体验方面的各种潜在目标。尽管遗传咨询会诊的心理影响引发了一些问题，但初步研究结果令人安心，显示出了心理益处。然而，预测医学中有关沟通的许多方面仍有待研究和改进。
