DDRIG: Constructions and Understandings of Cancer Genetic Risk

本研究旨在阐明癌症的遗传风险是如何被发现、传达、理解和采取行动的。乳腺癌和卵巢癌（BOC）基因检测在美国最近发生了巨大的变化。提供给患者的标准初始筛查已经从检测两种基因的高风险突变扩大到检测多达29种基因的突变，其中许多基因仅构成低或中等的癌症风险。通过12个月的实地调查，结合文献分析、参与观察、对卫生专业人员和突变携带者的深入访谈，本研究将探讨以下三个关键问题。在多基因面板检测的时代，如何使BOC的遗传风险可见？不同的BOC突变携带者如何理解遗传风险信息并对其采取行动？最后，利用多基因面板检测，实验室研究人员、医学专家和患者之间的关系是如何改变的？检查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。提出的研究将扩大和加深理解个人，临床和社会影响的基因检测最近的扩张。它的发现还可能帮助患者做出医疗决策，并提高公众对遗传生物医学的认识。本项目将STS框架引入风险研究。利用科学技术研究（STS）、医学社会学和性别研究的工具和理论框架，本项目旨在了解基因医学实践中的这些最新转变如何塑造风险、风险信念和风险沟通、风险身份和风险管理决策的积极建构。它的目的是检验关于遗传风险的某些观点是如何比其他观点更可信的；基因风险是如何主动产生的，而不仅仅是被发现的；以及社会和文化价值如何嵌入到遗传风险技术和风险管理指南中。本计划也提供了一个机会，实证调查和进一步发展社会理论的病人，生物医学化，和健康公民。本研究还将探讨BOC基因医学的患者是否以及在何种情况下形成生物社会社区，并作为与医疗权威相关的授权代理人。这是一个快速变化的领域，需要高度的技术和专业知识。

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.