Bouchard Louise, Blancquaert I, Eisinger F, Foulkes W D, Evans G, Sobol H, Julian-Reynier C
Sociology and Population Health Institute, University of Ottawa, 1 Stewart, Ottawa, ON, Canada K1N 6N5.
Soc Sci Med. 2004 Mar;58(6):1085-96. doi: 10.1016/s0277-9536(03)00263-6.
The discovery linking the genes BRCA1&2 to familial breast cancer played an important role in the clinical practice of geneticists and physicians. The availability of genetic tests for BRCA gene mutations prompted cancer geneticists to give information about genetic risk and to assess many women with a personal or family history of breast or ovarian cancer to inform them of preventive measures. These consist mainly of breast self-examination, mammography screening, chemoprevention and prophylactic surgery (mastectomy, oophorectomy). This paper examines clinical practices related to hereditary breast cancer testing and introduces a number of results from a survey carried out, between 1996 and 1998, in three clinics located in Montreal (Quebec, Canada), Marseilles (France) and Manchester (Great Britain). Results show substantial differences in the way cancer geneticists deal with environmental risk factors, breast and ovarian cancer testing, and chemoprevention and prophylactic surgery. Differences across cities persist in the multivariate analysis, suggesting that attitudes towards preventive measures may be partially explained by cultural factors. Different dimensions of culture are discussed including the social representation of health and risk, the interpretation of scientific evidence and the role of innovation leadership.
将基因BRCA1和BRCA2与家族性乳腺癌联系起来的这一发现，在遗传学家和医生的临床实践中发挥了重要作用。BRCA基因突变基因检测的出现，促使癌症遗传学家提供有关遗传风险的信息，并对许多有个人或家族乳腺癌或卵巢癌病史的女性进行评估，以便告知她们预防措施。这些措施主要包括乳房自我检查、乳房X光筛查、化学预防和预防性手术（乳房切除术、卵巢切除术）。本文研究了与遗传性乳腺癌检测相关的临床实践，并介绍了1996年至1998年期间在位于加拿大魁北克省蒙特利尔、法国马赛和英国曼彻斯特的三家诊所进行的一项调查的一些结果。结果显示，癌症遗传学家在处理环境风险因素、乳腺癌和卵巢癌检测以及化学预防和预防性手术的方式上存在显著差异。在多变量分析中，不同城市之间的差异依然存在，这表明对预防措施的态度可能部分由文化因素解释。文中讨论了文化的不同维度，包括健康和风险的社会表征、科学证据的解释以及创新领导力的作用。
