Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider
Intrafamilial disclosure of risk for hereditary breast and ovarian cancer: points to consider
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DOI：
10.1007/s12687-012-0132-y
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发表时间：
2013-04-01
影响因子：
1.9
通讯作者：
Knoppers, Bartha Maria
中科院分区：
文献类型：
--
作者：
Black, Lee;McClellan, Kelly A.;Knoppers, Bartha Maria
乳腺癌和卵巢癌筛查的主要目标是尽量减少晚期疾病的病例，从而减少死亡率。对于遗传性乳腺癌和卵巢癌，实现这一目标的一种方法是在家庭成员之间传播遗传风险信息。然而，经验告诉我们，这些信息并不总是及时传达给家庭成员，如果有的话。在决定是否公开家族内的遗传风险信息时，有很多因素在起作用，而目前的指导方针缺乏细节和凝聚力，这对遗传性乳腺癌的预防是有害的。利用法律、医学和政策数据库，收集与家庭内基因检测结果交流有关的文献、判例法和政策文件，并与具有代表性的利益攸关方进行协商，制定了一个考虑要点，以解决可能影响患者向家庭成员通报遗传风险的能力和意愿的若干问题。这些问题包括：什么是“遗传信息”；谁是“家人”；为什么患者要告知其家属；卫生专业人员应该如何参与这一过程？这只是朝着促进家庭内部更好的沟通迈出的第一步。考虑到人类关系的复杂性和遗传信息的概率性，需要进一步的研究来确定鼓励这种交流的最佳方法和披露或不披露的动机，并促进解决方案的发展。
The primary goal of breast and ovarian cancer screening is to minimize the cases of advanced disease and therefore its mortality rate. For hereditary breast and ovarian cancer, one method to reach this goal is to disseminate genetic risk information among family members. However, experience tells us that this information does not always reach family members in a timely manner, if at all. There are many moving parts to a decision to disclose genetic risk information within a family, and the lack of detail and cohesion in current guidelines do a disservice to hereditary breast cancer prevention. Utilizing legal, medical, and policy databases for literature, case law and policy documents relating to communication of genetic test results within families, as well as a consultative process with representative stakeholders, a points to consider has been developed to address a number of issues that might impact the ability and willingness of patients to inform family members of genetic risk. These include: what is "genetic information"; who is the "family"; why should patients inform their family members; and how should health professionals be involved in this process? This represents only an initial step towards fostering better communication within families. Additional research is needed to determine the best methods for encouraging this communication and motivations for disclosing or not and to promote the development of a solution, considering the complexity of human relationships and the probabilistic nature of genetic information.