DDRIG: Constructions and Understandings of Cancer Genetic Risk

这项研究试图阐明癌症的遗传风险是如何被看到、传达、理解和采取行动的。美国的乳腺癌和卵巢癌(BOC)基因检测最近发生了巨大的变化。为患者提供的标准初始筛查已经从两个基因的高危突变检测扩大到多达29个基因的突变检测，其中许多基因只有低或中等的癌症风险。通过12个月的实地工作，结合文献分析、参与者观察以及对卫生专业人员和突变携带者的深入访谈，本研究将调查以下三个关键问题。在多基因小组检测的时代，中国银行的遗传风险是如何显现的？不同的BOC突变携带者如何理解和处理遗传风险信息？最后，多基因小组测试的使用如何改变实验室研究人员、医学专家和患者之间的关系？研究这些问题将有助于揭示风险和遗传医学的社会和结构层面。这项拟议的研究将拓宽和加深对最近扩大的基因检测的个人、临床和社会影响的理解。它的发现还可能帮助患者进行医疗决策，并提高更广泛的公众在遗传生物医学方面的素养。技术概述该项目将STS框架引入风险研究。使用科学技术研究(STS)、医学社会学和性别研究的工具和理论框架，该项目旨在了解遗传医学实践中最近的这些转变如何塑造关于风险、风险认同和风险管理决策的积极构建风险、信念和沟通。它旨在研究关于遗传风险的某些想法如何获得相对于其他想法的可信度；遗传风险是如何积极产生的，而不仅仅是被发现的；以及社会和文化价值如何嵌入遗传风险技术和风险管理指南。这个项目还提供了一个机会，对患者身份、生物医学化和健康公民身份的社会理论进行实证研究和进一步发展。这项研究还将探索中银遗传医学的患者是否以及在何种情况下形成生物社会社区，并在何种情况下充当与医疗当局有关的授权代理人。

General Audience Summary This study seeks to shed light on how genetic risk for cancer is made visible, communicated, understood, and acted upon. Breast and ovarian cancer (BOC) genetic testing in the U.S. has recently undergone dramatic changes. The standard initial screening offered to patients has expanded from a test for high-risk mutations on two genes to a test for mutations on as many as 29 genes, many of which pose only a low or moderate risk of developing cancer. Through 12 months of fieldwork combining document analysis, participant observation, and in-depth interviews with health professionals and mutation carriers, this study will investigate the following three key questions. How is BOC genetic risk made visible in the era of multi-gene panel testing? How is genetic risk information understood and acted upon by diverse carriers of BOC mutations? Finally, how are relationships among and between laboratory researchers, medical experts, and patients being transformed by the utilization of multi-gene panel tests? Examining these questions will help to reveal the social and structural dimensions of risk and genetic medicine. The proposed study will broaden and deepen understandings of the personal, clinical, and societal implications of the recent expansions of genetic testing. Its findings might also aid patients in medical decision-making and enhance broader public literacy in genetic biomedicine.Technical Summary This project brings STS frameworks to the study of risk. Using tools and theoretical frameworks from science and technology studies (STS), medical sociology, and gender studies, this project aims to understand how these recent shifts in the practices of genetic medicine are shaping the active construction of risk, beliefs and communication about risk, risk identities, and risk management decisions. It aims to examine how certain ideas about genetic risk gain credibility over others; how genetic risk is actively produced, not just discovered; and how social and cultural values are embedded in genetic risk technologies and risk management guidelines. This project also presents an opportunity to empirically investigate and further develop social theories on patienthood, biomedicalization, and health citizenship. This study will also explore whether and under what circumstances patients of BOC genetic medicine--a rapidly changing field that requires highly technical and specialized knowledge--form biosocial communities and act as empowered agents in relation to medical authority.