Durfy S J, Buchanan T E, Burke W
Department of Medical History and Ethics, University of Washington, Seattle 98195-7120, USA.
Am J Med Genet. 1998 Jan 6;75(1):82-7.
The identification of genetic mutations linked to breast cancer has made it possible to test for the genetic predisposition to this disease. However, though this test may provide certain benefits, there are also potential risks involved with the testing process, including social and economic considerations. In light of these potential risks, we sought to determine what information individuals are receiving in the informed decision making process. To learn the minimal amount of information the actual testees receive, we obtained 10 informed consent forms from seven different testing facilities. These testing centers include the major sources of BRCA1 and BRCA2 mutation testing in the United States at this time. We analyzed the content of these forms by developing content categories and scoring them appropriately. We found all ten forms discussed in varying ways and to varying degrees the purpose of genetic testing, limitations of the test, implications of both positive and negative results, and confidentiality procedures; most, but not all, addressed various psychological and insurance risks. Overall, the forms demonstrated substantial variation in content and organization, underlining the need for more discussion and research on the purpose, nature, and effectiveness of informed consent forms for this type of genetic test.
与乳腺癌相关的基因突变的识别使得检测这种疾病的遗传易感性成为可能。然而，尽管这项检测可能带来某些益处，但检测过程也存在潜在风险，包括社会和经济方面的考量。鉴于这些潜在风险，我们试图确定个体在知情决策过程中获得了哪些信息。为了解实际受测者获得的最少信息量，我们从七个不同的检测机构获取了10份知情同意书。这些检测中心是目前美国BRCA1和BRCA2基因突变检测的主要来源。我们通过制定内容类别并进行适当评分来分析这些表格的内容。我们发现所有十份表格都以不同方式、不同程度地讨论了基因检测的目的、检测的局限性、阳性和阴性结果的影响以及保密程序；大多数（但并非全部）涉及了各种心理和保险风险。总体而言，这些表格在内容和组织上存在很大差异，突出表明需要就此类基因检测的知情同意书的目的、性质和有效性进行更多讨论和研究。
