Department of Clinical Genetics, VU University Medical Center, Amsterdam, The Netherlands.
Fam Cancer. 2013 Jun;12(2):319-24. doi: 10.1007/s10689-013-9636-9.
The diagnosis of Lynch syndrome can lead to the prevention of colorectal cancer through periodic colonoscopies and removal of premalignant lesions in susceptible individuals. Therefore, predisposed individuals identified by mutation analysis are advised to inform their at-risk relatives about the options of predictive DNA testing and preventive measures. However, it has now been established that more than half of these relatives do not receive the necessary information. Barriers in conveying information include family communication problems and variable attitudes and practice among clinical geneticists. In this complex field, both medical, psychological, ethical and juridical aspects deserve consideration. Here we summarize the development of a revised guideline for clinical geneticists that allows a more active role of the geneticist, aimed at improving procedures to inform family members in Lynch syndrome and other hereditary and familial cancer syndromes.
林奇综合征的诊断可以通过定期结肠镜检查和切除易感个体的癌前病变来预防结直肠癌。因此，建议通过突变分析确定的易患个体告知其高危亲属有关预测性 DNA 检测和预防措施的选择。然而，现在已经确定，这些亲属中超过一半没有获得必要的信息。信息传递的障碍包括家庭沟通问题以及临床遗传学家之间不同的态度和做法。在这个复杂的领域，医学、心理、伦理和法律方面都值得考虑。在这里，我们总结了修订后的临床遗传学家指南的制定，该指南允许遗传学家发挥更积极的作用，旨在改进林奇综合征和其他遗传性和家族性癌症综合征中告知家庭成员的程序。
