PDF(Pubmed)
Abstract：
Relatively little is known about experiences of individuals with a pathogenic variant in a moderately penetrant breast cancer gene, particularly those without a personal history of cancer. The WISDOM trial is testing a model of risk-based breast cancer screening that integrates genomic (nine genes and polygenic risk) and other risk factors. In the context of an embedded Ethical, Legal, and Social Implications (ELSI) study of WISDOM, we conducted qualitative interviews at two timepoints post-result disclosure with 22 ATM and CHEK2 carriers. Results disclosure and interview recordings were transcribed and analyzed using a grounded theory analysis framework. We found that participants minimized the significance of their results in comparison to BRCA; were surprised but not alarmed by the results in the absence of family history; did not fundamentally change their perception of their breast cancer risk despite the new genomic information; exhibited variable responses to WISDOM\'s screening and risk reduction recommendations; and shared test results with family but did not strongly encourage cascade testing. Participants viewed the results as having limited utility and responded accordingly. Our study offers important insights into how genetic test results for moderate-risk genes are received, understood, and acted upon in population screening context.
摘要：
对具有中等渗透性乳腺癌基因致病变异的个体的经验知之甚少，特别是那些没有个人癌症史的人。WISDOM试验正在测试基于风险的乳腺癌筛查模型，该模型整合了基因组（9个基因和多基因风险）和其他风险因素。在嵌入式伦理的背景下，Legal,和社会影响(ELSI)对智慧的研究，我们在结果披露后的两个时间点对22名ATM和CHEK2携带者进行了定性访谈.使用扎根理论分析框架对结果披露和访谈记录进行转录和分析。我们发现，与BRCA相比，参与者将结果的重要性降至最低；在没有家族史的情况下，对结果感到惊讶，但并不感到震惊；尽管有新的基因组信息，但他们对乳腺癌风险的看法没有根本改变；对WISDOM的筛查和风险降低建议表现出不同的反应；与家人分享测试结果，但不强烈鼓励级联测试。与会者认为结果的效用有限，并做出了相应的回应。我们的研究提供了有关如何接收中等风险基因的基因检测结果的重要见解，理解,并在人群筛查背景下采取行动。
