University of Amsterdam/Centre for Society and Genomics, Nijmegen, Amsterdam, The Netherlands.
J Med Ethics. 2010 Jul;36(7):391-5. doi: 10.1136/jme.2009.033324.
If a hereditary predisposition to colorectal cancer or breast cancer is diagnosed, most guidelines state that clinical geneticists should request index patients to inform their at-risk relatives about the existence of this condition in their family, thus enabling them to consider presymptomatic genetic testing. Those identified as mutation carriers can undertake strategies to reduce their risk of developing the disease or to facilitate early diagnosis. This procedure of informing relatives through the index patient has been criticised, as it results in relatively few requests for genetic testing, conceivably because a certain number of relatives remain uninformed. This pilot study explored attitudes toward informing family members and relevant practices among clinical geneticists. In general, clinical geneticists consider it to be in the interests of family members to be informed and acknowledge that this goal is not accomplished by current procedures. The reasons given for maintaining present practices despite this include clinical 'mores', uncertainty about the legal right of doctors to inform family members themselves, and, importantly, a lack of resources. We discuss these reasons from an ethical point of view and conclude that they are partly uninformed and inconsistent. If informing relatives is considered to be in their best interests, clinical geneticists should consider informing relatives themselves. In the common situation in which index patients do not object to informing relatives, no legal obstacles prevent geneticists from doing so. An evaluation of these findings among professionals may lead to a more active approach in clinical practice.
如果诊断出遗传性结直肠癌或乳腺癌易感性，大多数指南都规定临床遗传学家应要求索引患者告知其高危亲属家族中存在这种情况，以便他们考虑进行症状前的基因检测。那些被确定为突变携带者的人可以采取策略来降低患病风险或促进早期诊断。通过索引患者告知亲属的这种做法受到了批评，因为它导致相对较少的人请求进行基因检测，这可能是因为有一定数量的亲属未被告知。这项试点研究探讨了临床遗传学家对告知家庭成员的态度和相关做法。一般来说，临床遗传学家认为告知家庭成员符合他们的利益，并且承认目前的程序并没有实现这一目标。尽管如此，他们仍坚持目前做法的原因包括临床“习俗”、对医生告知家庭成员自身权利的不确定性，以及重要的是缺乏资源。我们从伦理角度讨论了这些原因，并得出结论，其中部分原因是不了解情况和不一致的。如果认为告知亲属符合他们的最佳利益，临床遗传学家应考虑亲自告知亲属。在索引患者不反对告知亲属的常见情况下，法律上没有障碍阻止遗传学家这样做。在专业人员中对这些发现进行评估可能会导致临床实践中采取更积极的方法。
