科学家回顾探讨基因检测的影响

  过去10年里在癌症遗传检测领域取得了巨大的进步，主要包括对遗传突变的鉴别、癌症筛查、监督及预防；近日来自阿德莱德大学的研究者开展了一项研究，当谈到个体是否了解遗传性的癌症风险时研究者就调查了个人、家庭及广泛的社区在遗传性癌症风险中所扮演的角色及拥有的权利。
  研究者Gilson教授说道，在澳大利亚，高达5%的乳腺癌、肠癌、卵巢癌、黑色素瘤患者都是因为遗传突变所引发的，但是即使遗传检测可以鉴别出和突变相关的家族性癌症，也没有预测这种家族性癌症是否会发生的方法。如果个体易于患癌的话，他们就想知道癌症为什么会发生；有些个体或许想知道因为他们采取了预防性的手术措施，就像是乳腺癌患者进行乳房切除术一样，知道癌症增加的风险或许会影响个体是否生育后代的想法。
  对于某些人而言，发现他们患癌风险较高让人非常悲伤，他们同时也会非常在乎家人们的看法，研究者表示，当前围绕基因检测的法律的其中一个问题就是个体是否会被告知自己因遗传状况而导致的癌症风险增加，尽管个体不想知道这些事情；而针对基因检测的很多讨论也主要集中在个人的隐私上。
  早在2006年，澳大利亚联邦政府就修订了保密立法，以使得从业医生在不经当事人同意的情况下阐明处于风险状况的家庭成员的遗传信息；研究者最后表示，我们需要确定遗传学对社会、法律、伦理及文化的影响不会滞后于科学进步；当然我们也需要参与到讨论中去来确保个人的权利是否得到了最佳的保护。（转化医学网360zhyx.com）
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转化医学网推荐的原文摘要：

The Right to Know or Not to Know: Risk Notification and Genetic Counselling
Advances in Medical Sociology.  doi:10.1108/S1057-629020150000016009
Amaya Gilson Susan R. Hemer Anna Chur-Hansen Shona Crabb
Purpose
Risk notification is part of a focus on preventive medicine that is dominant in contemporary Western biomedicine. Genomics has forecasted great advances in alleviating disease and prolonging human life, moving from a reactive to a preventative practice. However, in doing so, genomics redraws boundaries, potentially classifying all people as possible carriers of malfunctioning genes. This chapter presents a critical review of the practice of ‘risk notification’ as undertaken by familial cancer genetic testing services, focusing on the right to be informed or not to be informed and implications of knowing.

Methodology/approach
With backgrounds in anthropology, psychology and public health, the authors draw upon literature around risk notification from a range of disciplines.

Findings
In the context of familial cancer, clients may be asked to provide contact information for biological family members to inform them of their potential genetic risk. Through these processes a number of tensions and issues may emerge that relate to fundamental bioethical principles. The ability and decision whether to know, or conversely, to not know, is ethically fraught. We consider the roles and rights of family members and clients, as well as the broader goal of population health.

Originality/value
While much attention has been devoted to clients’ right to know in the context of medical research and treatment, relatively little work has examined the right not to know and adverse consequences of knowing. This review addresses concerns which have rarely been critically examined and debated in the context of risk notification of biological family members.